Paediatric Hematologic, Oncologic & Genetic Disorders - Revision Notes
This chapter covers the blood disorders, childhood cancers, and genetic conditions most commonly tested in the Philippine Nursing Licensure Examination (NLE) under Nursing Care of the Childbearing and Childrearing Family (NCM 103/105). Mastery of these topics requires understanding the underlying pathophysiology, recognizing priority nursing diagnoses using the NANDA framework and Maslow's hierarchy, and applying safe, evidence-based nursing interventions. Key disorders include leukemia (most common childhood cancer), hemophilia, sickle cell disease, thalassemia, iron-deficiency anemia, immune thrombocytopenic purpura (ITP), and Down syndrome (Trisomy 21), as well as Philippine-specific newborn screening programs under RA 9288. As a future registered nurse under RA 9173 (Philippine Nursing Act of 2002), you are responsible for safe, competent, and ethical care of the pediatric patient and for empowering families through health education.
1. Leukemia — Most Common Childhood Cancer
Exam tips
- If the question asks 'What is the MOST IMPORTANT nursing intervention for a child with leukemia?' — answer: INFECTION PREVENTION (neutropenic precautions), because infection is the leading cause of death.
- If the NLE stem describes a child with 'pancytopenia and bone pain' — think leukemia; the confirmatory test is BONE MARROW ASPIRATION.
- Memorize the 'NO list' for neutropenic children: NO flowers, NO raw food, NO crowds, NO rectal temps, NO IM injections, NO live vaccines.
- Peak age for ALL: 2–5 years. ALL has a BETTER prognosis than AML (acute myeloid leukemia).
- For chemotherapy side effects: give antiemetics (e.g., ondansetron) BEFORE chemo begins; use saline mouth rinses for mucositis; reassure that alopecia is TEMPORARY and hair will regrow.
Key points
- Leukemia is the MOST COMMON childhood cancer in the Philippines and worldwide.
- Acute Lymphoblastic/Lymphocytic Leukemia (ALL) is the most common type, with peak incidence at 2–5 years of age and a generally GOOD prognosis with modern chemotherapy.
- Pathophysiology: Uncontrolled proliferation of immature white blood cells (blast cells) in the bone marrow crowds out normal blood cell production, causing PANCYTOPENIA — a triad of anemia, neutropenia, and thrombocytopenia.
- Classic triad consequences: (1) Anemia → pallor, fatigue; (2) Neutropenia → infection risk (LEADING CAUSE OF DEATH); (3) Thrombocytopenia → bleeding, petechiae, bruising.
- Other signs: bone and joint pain, hepatosplenomegaly, lymphadenopathy, fever.
- Diagnosis is confirmed by BONE MARROW ASPIRATION (biopsy).
- PRIORITY NURSING DIAGNOSES (NANDA, Maslow-based priority): (1) Risk for Infection related to neutropenia [Physiologic Safety — highest priority]; (2) Risk for Bleeding/Injury related to thrombocytopenia; (3) Fatigue related to anemia; (4) Imbalanced Nutrition: Less Than Body Requirements related to chemotherapy side effects.
- NEUTROPENIC PRECAUTIONS: meticulous hand hygiene; private room (protective isolation); NO fresh flowers or plants (harbor microorganisms); NO raw/uncooked foods; restrict visitors who are sick or have been recently vaccinated with live vaccines; monitor temperature (fever is the ONLY early sign of infection in neutropenia — treat as a medical emergency).
- AVOID in neutropenic child: rectal temperature-taking, suppositories, enemas, IM injections (risk of bleeding and infection at puncture sites).
- BLEEDING PRECAUTIONS: soft toothbrush, electric razor, no contact sports, no aspirin or NSAIDs, monitor platelet count.
- LIVE VACCINES ARE CONTRAINDICATED during immunosuppressive chemotherapy.
- Chemotherapy side effects to manage: nausea/vomiting, mucositis (mouth sores), alopecia, peripheral neuropathy (especially vincristine), and nutritional deficits.
Definitions
Pancytopenia
A simultaneous decrease in all three blood cell lines: red blood cells (anemia), white blood cells (leukopenia/neutropenia), and platelets (thrombocytopenia), caused by bone marrow suppression in leukemia.
Importance
The entire nursing care plan for leukemia revolves around managing the consequences of pancytopenia — infection, bleeding, and anemia.
Blast Cells
Immature, nonfunctional white blood cells that proliferate uncontrollably in leukemia and crowd out healthy blood cell production in the bone marrow.
Importance
The hallmark of leukemia; their presence in the bone marrow confirms the diagnosis.
Neutropenic Precautions
A set of protective infection-control measures implemented for patients with dangerously low neutrophil counts (ANC <500/mm³) who are at extreme risk for life-threatening infections.
Importance
Infection is the leading cause of death in leukemia; these precautions are the nurse's most critical safety intervention.
Bone Marrow Aspiration
The definitive diagnostic procedure for leukemia in which a needle is inserted into the iliac crest or sternum to withdraw bone marrow for microscopic examination of blast cell percentage.
Importance
This is the gold-standard confirmatory test; nurses prepare and support the child through the procedure.
Common mistakes
- Confusing 'leukemia = high WBC' with the concept of neutropenia — the WBC count may be elevated (immature blasts) but these cells are nonfunctional, making the child highly susceptible to infection.
- Forgetting that fever in a neutropenic child is an EMERGENCY, not a routine finding — it must be reported and treated immediately.
- Administering vaccines during chemotherapy — live vaccines (e.g., MMR, varicella) are absolutely contraindicated.
- Taking rectal temperature in a neutropenic/thrombocytopenic child — this can cause mucosal bleeding and introduce infection.
- Giving fresh flowers or raw foods to the neutropenic child — these are classic NLE 'wrong' choices.
2. Hemophilia — X-linked Recessive Bleeding Disorder
Exam tips
- Inheritance pattern: X-linked recessive = sons of carrier mothers are affected. Daughters of affected fathers are obligate carriers.
- Memory aid: 'A = 8 (VIII), B = 9 (IX)' — Hemophilia A is Factor 8, B is Factor 9.
- For acute joint bleed: RICE + Factor Replacement. The NLE may ask the FIRST action — assess for bleeding signs, then implement RICE and call for factor infusion.
- PTT is prolonged in hemophilia; platelet count is NORMAL — this differentiates hemophilia from ITP (where only platelets are low).
- DDAVP is only effective in MILD Hemophilia A — never for Hemophilia B or severe Hemophilia A.
Key points
- Hemophilia is an X-linked RECESSIVE bleeding disorder — it predominantly AFFECTS MALES; females are CARRIERS.
- Hemophilia A: FACTOR VIII deficiency — the MOST COMMON type (~80–85% of cases).
- Hemophilia B ('Christmas disease'): FACTOR IX deficiency.
- Hallmark clinical sign: HEMARTHROSIS — bleeding into the joints (knees, elbows, ankles) causing pain, swelling, warmth, and eventual joint destruction with repeated episodes.
- Other findings: easy bruising, prolonged bleeding after minor cuts or dental procedures, intracranial hemorrhage (life-threatening).
- Diagnostic clue: PROLONGED PTT (activated partial thromboplastin time), but NORMAL platelet count, bleeding time, and PT — because the intrinsic coagulation pathway is affected.
- TREATMENT: Replace the MISSING CLOTTING FACTOR (Factor VIII concentrate for Hemophilia A; Factor IX concentrate for Hemophilia B).
- DDAVP (desmopressin) can temporarily raise Factor VIII levels in MILD Hemophilia A by stimulating its release from endothelial cells.
- ACUTE JOINT BLEED management — remember 'RICE': REST the joint, ICE (cold pack, never heat), COMPRESSION, ELEVATION — plus factor replacement.
- FAMILY SAFETY TEACHING: Avoid aspirin and NSAIDs (impair platelet function and worsen bleeding); avoid IM injections; use a SOFT toothbrush; child should wear MEDICAL-ALERT identification; apply PROLONGED DIRECT PRESSURE to bleeding sites.
- ENCOURAGE non-contact, low-impact activities such as SWIMMING and CYCLING.
- Genetic counselling: carrier mother has 50% chance of passing the gene to sons (who will be affected) and 50% chance each daughter will be a carrier.
Definitions
Hemarthrosis
Bleeding into joint spaces, the hallmark complication of hemophilia, causing acute pain, swelling, warmth, and limited range of motion; repeated episodes lead to chronic joint damage (arthropathy).
Importance
Recognizing hemarthrosis as the hallmark sign of hemophilia is critical; the NLE frequently tests acute management of joint bleeds.
Factor VIII
A clotting protein required for the intrinsic coagulation pathway; deficient in Hemophilia A, the most common form of hemophilia.
Importance
Knowing which factor is deficient helps identify the correct replacement therapy and explains the prolonged PTT.
DDAVP (Desmopressin)
A synthetic analog of antidiuretic hormone (ADH) that stimulates endothelial cells to release stored Factor VIII; used only for mild Hemophilia A as it cannot work without some residual factor.
Importance
A common NLE distractor — remember it only works for MILD Hemophilia A, not severe cases or Hemophilia B.
PTT (Partial Thromboplastin Time)
A coagulation lab test that measures the intrinsic pathway; PROLONGED in hemophilia because Factor VIII or IX is deficient.
Importance
Key lab finding to differentiate hemophilia (prolonged PTT, normal platelets) from ITP (normal PTT, low platelets).
Common mistakes
- Confusing Hemophilia A (Factor VIII) with Hemophilia B (Factor IX) — remember 'A comes before B, and VIII comes before IX'.
- Applying HEAT to a joint bleed — heat promotes vasodilation and worsens bleeding; use ICE (cold).
- Recommending aspirin or NSAIDs for joint pain in hemophilia — these are ABSOLUTELY CONTRAINDICATED as they further impair platelet function.
- Giving IM injections to a child with hemophilia — IV or SC route is preferred; IM can cause deep muscle hematomas.
- Forgetting that platelet count and bleeding time are NORMAL in hemophilia — only PTT is prolonged.
3. Sickle Cell Disease — Autosomal Recessive Hemoglobinopathy
Exam tips
- Mnemonic for crisis management: HHOP — Hydration, Heat, Oxygen, Pain control.
- Remember: COLD is an enemy in SCD; WARMTH is therapeutic.
- Autosomal recessive: parents are carriers (sickle cell trait, HbAS); each child has 25% chance of disease (HbSS), 50% chance of trait (HbAS), 25% normal (HbAA).
- If the NLE stem describes a child with sudden severe splenomegaly and signs of shock — think SEQUESTRATION CRISIS, a life-threatening emergency requiring immediate fluid resuscitation and blood transfusion.
- Hydroxyurea is LONG-TERM preventive therapy, not acute crisis management.
Key points
- Sickle Cell Disease (SCD) is an AUTOSOMAL RECESSIVE disorder — both parents must carry the sickle cell trait; each pregnancy has a 25% risk of the child being affected.
- Caused by abnormal HEMOGLOBIN S (HbS) — under low-oxygen or stress conditions, HbS polymerizes and deforms RBCs into a sickle/crescent shape.
- CRISIS TRIGGERS (causes sickling): Hypoxia, Dehydration, Infection, Cold temperatures, Acidosis, Strenuous exercise, High altitude, Stress — mnemonic: 'HDICCASH'.
- VASO-OCCLUSIVE (PAINFUL) CRISIS — most common: sickled cells clump and occlude blood vessels, causing ischemic pain in extremities, abdomen, back, and chest; DACTYLITIS (painful swelling of hands and feet) is the earliest sign in infants.
- Other types of crises: SEQUESTRATION CRISIS (blood pools in spleen → sudden splenomegaly, hypovolemic shock — life-threatening); APLASTIC CRISIS (bone marrow suppression, usually by parvovirus B19).
- PRIORITY CRISIS MANAGEMENT — mnemonic 'HHOP': HYDRATION (IV and oral fluids — the most important intervention), HEAT/WARMTH (never cold — cold promotes sickling!), OXYGEN (for hypoxia), PAIN control (opioids for severe pain, e.g., morphine).
- Also: REST; identify and treat underlying infection; administer blood transfusions for severe anemia.
- HYDROXYUREA (long-term management): a medication that increases fetal hemoglobin (HbF) production, which does NOT sickle, thus reducing frequency and severity of crises.
- Functional asplenia (from repeated splenic infarctions): child is at HIGH RISK for infection by encapsulated bacteria (especially Streptococcus pneumoniae); ensure pneumococcal, meningococcal, and flu vaccines are given.
- FAMILY TEACHING: Maintain good hydration always; avoid extreme cold; avoid strenuous exertion and high altitude; seek early medical care for fever; report signs of crisis immediately.
Definitions
Hemoglobin S (HbS)
An abnormal form of hemoglobin resulting from a single amino acid substitution (valine for glutamic acid at position 6 of the beta-globin chain); under deoxygenated conditions, HbS polymerizes and distorts the RBC into a sickle shape.
Importance
Understanding HbS explains why low-oxygen states (hypoxia) are the primary trigger for sickling crises.
Vaso-occlusive Crisis
The most common type of sickle cell crisis, in which sickled RBCs clump together and block blood vessels, causing severe ischemic pain and potential organ damage.
Importance
The NLE frequently tests management priorities for vaso-occlusive crisis — Hydration first, then Heat, Oxygen, and Pain control.
Dactylitis
Painful, symmetric swelling of the hands and feet caused by sickle cell vaso-occlusion in the small bones; it is often the FIRST clinical manifestation of sickle cell disease in infants.
Importance
Key diagnostic clue for early presentation of SCD in infants — frequently tested in NLE pediatric scenarios.
Hydroxyurea
A chemotherapeutic agent used long-term in sickle cell disease that stimulates the production of fetal hemoglobin (HbF), which resists sickling and therefore reduces the frequency of painful crises.
Importance
Know this as the KEY pharmacologic long-term management for SCD; it is not for acute crisis treatment.
Common mistakes
- Applying COLD (e.g., ice packs) to a child in sickle cell crisis — cold is a TRIGGER for sickling; always use warmth.
- Forgetting that HYDRATION is the number-one priority intervention during a sickle cell crisis — fluids prevent sickling by diluting the blood and reducing sickling tendency.
- Confusing sickle cell disease (autosomal recessive) with hemophilia (X-linked recessive) — know the inheritance patterns.
- Treating all types of crises the same — sequestration crisis involves shock and requires BLOOD TRANSFUSION urgently.
- Not recognizing dactylitis as the earliest sign in infants — it is a classic NLE lead-in for SCD in the infant age group.
4. Thalassemia (Beta-Thalassemia Major / Cooley's Anemia)
Exam tips
- Key NLE link: Thalassemia major → chronic transfusions → IRON OVERLOAD → chelation therapy with DEFEROXAMINE (parenteral) or DEFERASIROX (oral).
- Physical features mnemonic for thalassemia major: 'CHIPMUNK FACE' — frontal bossing, prominent cheeks/maxilla, from bone marrow expansion.
- Do NOT confuse thalassemia (autosomal recessive, globin chain defect) with iron-deficiency anemia (nutritional, low iron stores).
- Serum FERRITIN is the key lab to monitor iron overload; elevated ferritin = worsening hemosiderosis.
- If an NLE question asks for the treatment of iron overload in thalassemia — the answer is CHELATION THERAPY, not stopping transfusions.
Key points
- Thalassemia is an AUTOSOMAL RECESSIVE disorder of HEMOGLOBIN SYNTHESIS — defective or absent production of globin chains causes ineffective erythropoiesis (RBC production).
- BETA-THALASSEMIA MAJOR (Cooley's Anemia) is the SEVERE FORM — complete absence of functional beta-globin chains; severe microcytic, hypochromic anemia develops in infancy (after fetal hemoglobin decreases at ~6 months).
- Clinical features: Severe pallor, fatigue, growth retardation, HEPATOSPLENOMEGALY (from extramedullary hematopoiesis), and characteristic facial features from bone marrow expansion — FRONTAL BOSSING (prominent forehead), MAXILLARY PROMINENCE, and CHIPMUNK FACIES (widened cheekbones).
- Lab findings: Severe microcytic, hypochromic anemia; elevated reticulocyte count; target cells on peripheral smear; elevated serum iron and ferritin.
- PRIMARY TREATMENT: Regular BLOOD TRANSFUSIONS every 3–4 weeks to maintain hemoglobin above a target level (usually >9–10 g/dL), allowing normal growth and preventing bone deformities.
- MAJOR COMPLICATION OF CHRONIC TRANSFUSIONS: IRON OVERLOAD (HEMOSIDEROSIS) — excess iron deposits in the heart, liver, endocrine glands (causing cardiomyopathy, cirrhosis, diabetes, growth failure, delayed puberty).
- TREATMENT FOR IRON OVERLOAD: CHELATION THERAPY — DEFEROXAMINE (given parenterally, usually subcutaneously via slow infusion overnight using a pump) or DEFERASIROX (oral tablet — more convenient, better compliance).
- BONE MARROW TRANSPLANTATION is the only CURE for thalassemia major.
- THALASSEMIA MINOR (trait): one abnormal gene, usually asymptomatic or mild anemia; no treatment needed but genetic counselling is important for family planning.
- Monitor: cardiac function (echocardiogram), liver function, endocrine function (thyroid, glucose, growth), and serum ferritin levels to guide chelation.
Definitions
Hemosiderosis (Iron Overload)
Pathological accumulation of excess iron in body tissues (heart, liver, endocrine organs) resulting from chronic blood transfusions in thalassemia major; it is the LEADING CAUSE OF DEATH in thalassemia if untreated.
Importance
The most critical complication nurses must monitor and address in thalassemia management; chelation therapy is the key intervention.
Chelation Therapy
The use of chelating agents (deferoxamine or deferasirox) that bind excess iron in the body, forming a complex that is then excreted in urine and stool, thereby preventing iron overload organ damage.
Importance
This is the specific treatment for iron overload in thalassemia — a high-yield NLE concept. Know both the parenteral (deferoxamine) and oral (deferasirox) options.
Frontal Bossing
Prominence of the frontal bone of the skull caused by excessive bone marrow expansion (hyperplasia) attempting to compensate for severe anemia in thalassemia major.
Importance
A classic physical finding that identifies thalassemia major in NLE patient scenarios.
Extramedullary Hematopoiesis
The production of blood cells outside the bone marrow (in the spleen, liver, and other organs) as the body compensates for ineffective marrow production in thalassemia; this causes hepatosplenomegaly.
Importance
Explains the hepatosplenomegaly seen in thalassemia major.
Common mistakes
- Treating thalassemia the same as iron-deficiency anemia and giving iron supplements — WRONG; thalassemia patients are already IRON OVERLOADED from transfusions; adding iron is harmful.
- Forgetting that deferoxamine is given parenterally (subcutaneous infusion), while deferasirox is oral — know the route for each chelating agent.
- Confusing thalassemia minor (asymptomatic, no treatment needed) with thalassemia major (severe, needs regular transfusions).
- Not monitoring for cardiac complications — iron deposits in the heart are the leading cause of death; regular echocardiograms are essential.
- Forgetting that bone marrow transplant is the ONLY CURE.
5. Iron-Deficiency Anemia — Most Common Nutritional Anemia in Children
Formulas
Elemental Iron Dose = 3–6 mg/kg/day of elemental iron
Example
A 10-kg toddler with IDA: Dose = 3–6 mg × 10 kg = 30–60 mg of elemental iron per day, divided into 2–3 doses. Note: Ferrous sulfate 300 mg contains ~60 mg elemental iron (20% elemental iron content).
Variables
Daily dose range based on body weight in kilograms
Application
Used to calculate the therapeutic oral iron dose for a child with iron-deficiency anemia using ferrous sulfate preparations.
Exam tips
- NLE memory aid for iron administration: 'Empty Stomach, Orange Juice, No Milk, Straw, Lock Away'.
- Reticulocytosis (7–10 days) is the FIRST sign of response to iron therapy, before hemoglobin rises.
- 'Milk baby' scenario in NLE = iron-deficiency anemia from excessive cow's milk intake displacing iron-rich food — the answer is ferrous sulfate supplementation + dietary counselling.
- Ferrous sulfate 300 mg = approximately 60 mg elemental iron (use 20% rule for calculations).
- Philippine DOH context: Iron supplementation is part of the national micronutrient supplementation program under the DOH IHCP (Integrated Health Care Program).
Key points
- Iron-deficiency anemia (IDA) is the MOST COMMON nutritional anemia in Filipino children, particularly affecting infants, toddlers (rapid growth + early cow's milk introduction), and adolescents (growth spurts, menstruation).
- Causes in infants/toddlers: Exclusive cow's milk feeding ('milk baby') displaces iron-rich foods; cow's milk is LOW in iron AND can cause occult GI blood loss; premature birth (inadequate iron stores); late introduction of iron-rich complementary foods.
- Lab findings: LOW hemoglobin, LOW serum ferritin (earliest indicator of iron depletion), MICROCYTIC (small), HYPOCHROMIC (pale) RBCs on peripheral smear.
- Clinical signs: Pallor (inner eyelid, nail beds, palms), fatigue, irritability, poor feeding, poor attention span; in severe cases — pica (eating non-food items like clay/dirt), tachycardia.
- TREATMENT: Oral iron supplementation — FERROUS SULFATE at ~3–6 mg/kg/day of ELEMENTAL IRON in 2–3 divided doses.
- KEY ADMINISTRATION INSTRUCTIONS (frequently tested on NLE): Give BETWEEN MEALS (empty stomach improves absorption); give WITH VITAMIN C (ascorbic acid/citrus/orange juice) to enhance absorption; do NOT give with MILK (calcium impairs iron absorption).
- For LIQUID IRON DROPS: use a STRAW or dropper placed toward the BACK OF THE MOUTH to prevent tooth staining; brush teeth afterward.
- Expected side effects (NORMAL — reassure parents): DARK, TARRY, BLACK STOOLS; possible constipation; possible mild GI upset.
- CRITICAL SAFETY: Keep iron supplements LOCKED UP and out of reach — ACCIDENTAL IRON OVERDOSE is a LEADING CAUSE OF POISONING DEATH in young Filipino children.
- Signs of therapeutic response: Reticulocytosis (increased reticulocyte count) within 7–10 days; hemoglobin rises within 4 weeks; continue iron for 2–3 MONTHS AFTER HEMOGLOBIN NORMALIZES to replenish iron stores.
- PHILIPPINE CONTEXT (DOH programs): DOH provides iron supplementation programs for infants, children, and pregnant women; the Philippine Iron Supplementation Program supports prevention of IDA nationwide.
Definitions
Microcytic Hypochromic Anemia
Anemia characterized by abnormally small (microcytic) and pale (hypochromic) red blood cells due to inadequate hemoglobin synthesis from iron deficiency.
Importance
The hallmark RBC morphology in iron-deficiency anemia and thalassemia — helps the nurse understand the underlying pathophysiology.
Serum Ferritin
A blood protein that stores iron; the EARLIEST and most sensitive laboratory indicator of iron depletion, falling before hemoglobin levels drop.
Importance
Low serum ferritin is the first laboratory sign of iron deficiency — useful for early screening.
Pica
A compulsive craving and ingestion of non-nutritive substances such as clay, dirt, ice, or paper; associated with severe iron deficiency anemia and believed to be a manifestation of nutritional deficiency.
Importance
A classic symptom of severe IDA in children; recognizing pica prompts the nurse to screen for iron deficiency.
Common mistakes
- Giving iron with MILK — calcium in milk significantly IMPAIRS iron absorption; always separate iron from dairy by at least 1 hour.
- Not warning parents about DARK, BLACK STOOLS — parents who are not warned may stop the medication, thinking something is wrong.
- Not emphasizing LOCKING UP iron supplements — iron is the number-one cause of accidental poisoning death in young children in the Philippines.
- Stopping iron supplementation as soon as hemoglobin normalizes — treatment must continue for 2–3 months MORE to rebuild iron stores.
- Confusing iron-deficiency anemia (nutritional; low ferritin) with thalassemia minor (genetic; normal or elevated ferritin) — do NOT give iron to thalassemia patients.
6. Immune Thrombocytopenic Purpura (ITP)
Exam tips
- NLE clue: 'A 5-year-old child develops petechiae and bruising 2 weeks after a viral respiratory infection; WBC and hemoglobin are normal' — this is CLASSIC ITP.
- ITP = isolated thrombocytopenia + otherwise well child + post-viral onset.
- Avoid ALL platelet-impairing drugs: aspirin, NSAIDs, antihistamines with platelet effects.
- The most feared complication = INTRACRANIAL HEMORRHAGE; assess for neurologic changes in any ITP child with platelets <10,000/mm³.
Key points
- ITP is an ACQUIRED AUTOIMMUNE disorder — the immune system produces antibodies against platelets (anti-platelet IgG antibodies), leading to their destruction by macrophages in the spleen.
- Usually follows a VIRAL ILLNESS (e.g., upper respiratory infection) by 1–3 weeks in an otherwise healthy child; most common in children aged 2–10 years.
- KEY DIAGNOSTIC FEATURE: ISOLATED THROMBOCYTOPENIA — LOW platelet count (<100,000/mm³, often <20,000/mm³) with NORMAL WBC count and NORMAL hemoglobin. The child appears well overall.
- Clinical signs: Easy bruising, PETECHIAE (pinpoint hemorrhagic spots), PURPURA (larger hemorrhagic patches), nosebleeds (epistaxis), gum bleeding. NO splenomegaly, NO fever, NO lymphadenopathy.
- PRIORITY NURSING DIAGNOSIS: Risk for Bleeding/Injury related to thrombocytopenia.
- MANAGEMENT: Many cases are SELF-LIMITING and resolve within 6 months without treatment. For significant bleeding — CORTICOSTEROIDS (prednisone), INTRAVENOUS IMMUNOGLOBULIN (IVIG), or anti-D immunoglobulin. SPLENECTOMY for chronic refractory ITP.
- NURSING CARE — BLEEDING PRECAUTIONS: Avoid contact sports and rough activities; use SOFT TOOTHBRUSH; avoid ASPIRIN and NSAIDs; avoid IM injections; pad the crib rails; monitor for signs of intracranial hemorrhage (the most serious complication — headache, vomiting, altered consciousness).
- ITP vs. Leukemia: Key NLE differentiator — in ITP, only PLATELETS are low; child looks well; in leukemia, ALL cell lines are low (pancytopenia) with bone pain, hepatosplenomegaly, lymphadenopathy.
Definitions
Petechiae
Tiny (1–3 mm) pinpoint, flat, non-blanchable hemorrhagic spots in the skin caused by bleeding from capillaries; a classic sign of thrombocytopenia.
Importance
A key assessment finding in both ITP and leukemia; in ITP it occurs with normal WBC and hemoglobin.
Purpura
Larger (>3 mm) non-blanchable hemorrhagic patches in the skin, representing bleeding into the dermis; seen in severe thrombocytopenia.
Importance
Differentiates from bruising (ecchymosis) and indicates significant platelet dysfunction.
Common mistakes
- Confusing ITP with leukemia — in ITP, only platelets are low; hemoglobin and WBC are NORMAL; the child looks well.
- Ordering aspirin for headache or fever in an ITP child — aspirin impairs platelet function and can precipitate life-threatening bleeding.
- Forgetting to monitor for INTRACRANIAL HEMORRHAGE — the most dangerous complication of severe ITP (platelets <10,000/mm³).
- Not reassuring the family that ACUTE ITP in children is usually SELF-LIMITING — most resolve within 6 months.
7. Down Syndrome (Trisomy 21) — Most Common Chromosomal Disorder
Exam tips
- NLE tip: 'Hypotonia + epicanthal folds + single palmar crease + flat nasal bridge' = Down syndrome (Trisomy 21).
- Most common cardiac defect in Down syndrome = AV CANAL DEFECT (endocardial cushion defect) — involves both the atrial and ventricular septa.
- Advanced maternal age (≥35 years) is the primary risk factor, but most cases are born to younger mothers due to higher birth rates.
- Feeding priority for Down syndrome infant: support head/chin, feed slowly, small amounts, use special nipple — hypotonia is the primary challenge.
- Refer immediately at birth: echocardiogram (cardiac defects), audiology (hearing), ophthalmology (vision), early intervention program.
Key points
- Down syndrome results from an EXTRA CHROMOSOME 21 — most commonly from TRISOMY 21 (non-disjunction during meiosis), giving a total of 47 chromosomes instead of 46.
- Risk increases significantly with ADVANCED MATERNAL AGE (especially ≥35 years); however, the majority of cases are born to mothers under 35 due to higher birth rates in that age group.
- CLASSIC PHYSICAL FEATURES: HYPOTONIA (floppy muscle tone — most prominent in infants); UPWARD-SLANTING PALPEBRAL FISSURES; EPICANTHAL FOLDS (skin folds at the inner corner of eyes); FLAT FACIAL PROFILE and flat nasal bridge; PROTRUDING TONGUE (macroglossia relative to small oral cavity); short neck; SINGLE TRANSVERSE PALMAR CREASE (Simian/Simian line); SHORT, BROAD HANDS with clinodactyly (curved fifth finger); wide gap between first and second toes ('sandal gap').
- ASSOCIATED CONDITIONS (HIGH NLE FREQUENCY): CONGENITAL HEART DEFECTS (50–60% of cases — especially AV canal defect/Endocardial Cushion Defect, VSD, ASD); GI ANOMALIES (duodenal atresia — 'double bubble' sign on X-ray; Hirschsprung's disease); HYPOTHYROIDISM; hearing and vision problems; ATLANTOAXIAL INSTABILITY (laxity of the C1-C2 joint — restrict contact sports and neck flexion activities).
- Also: Increased risk of LEUKEMIA (especially AML); recurrent RESPIRATORY INFECTIONS (due to hypotonia, immunologic differences, and anatomic factors); intellectual disability (mild to moderate).
- PRIORITY NURSING CARE — FEEDING (hypotonia + protruding tongue make feeding difficult): support the infant's HEAD and CHIN, feed slowly in small amounts, use appropriate nipple, ensure adequate caloric intake; monitor weight using DOWN SYNDROME-SPECIFIC GROWTH CHARTS.
- DEVELOPMENTAL STIMULATION: Refer early to EARLY INTERVENTION PROGRAMS — physical therapy (for hypotonia), occupational therapy, speech-language therapy; milestones are delayed but children DO achieve developmental goals.
- Monitor: cardiac status (echocardiogram at birth), thyroid function (annually), hearing, vision, atlantoaxial instability screening before sports participation.
- GENETIC COUNSELLING: Non-directive; explain recurrence risks; refer to genetics team. Nurses under RA 9173 are responsible for supporting family adaptation and providing community health referrals.
Definitions
Trisomy 21
The presence of three copies of chromosome 21 in every cell (47 chromosomes total), caused by non-disjunction during meiosis, resulting in Down syndrome.
Importance
The most common chromosomal cause of intellectual disability worldwide; understanding the chromosomal mechanism supports genetic counselling discussions.
Epicanthal Folds
Vertical skin folds that partially or completely cover the inner corners (medial canthi) of the eyes; a classic facial feature of Down syndrome.
Importance
One of the most recognizable physical features described in NLE clinical scenarios for Down syndrome.
Atlantoaxial Instability
Excessive laxity or hypermobility of the ligaments between the first (atlas) and second (axis) cervical vertebrae, seen in approximately 15% of people with Down syndrome; can cause spinal cord compression with forceful neck movement.
Importance
A critical safety consideration — nurses must educate families to RESTRICT contact sports, gymnastics, and activities involving extreme neck flexion.
Simian Crease (Single Transverse Palmar Crease)
A single horizontal crease across the palm of the hand instead of the usual two separate creases; found in approximately 50% of people with Down syndrome.
Importance
A classic physical assessment finding frequently used in NLE case scenarios to identify Down syndrome.
Common mistakes
- Assuming all children with Down syndrome have the same level of intellectual disability — severity ranges from mild to moderate; early intervention significantly improves outcomes.
- Forgetting to screen for CONGENITAL HEART DEFECTS at birth — it is the most common cause of death in infants with Down syndrome; an echocardiogram is essential.
- Overlooking ATLANTOAXIAL INSTABILITY — failure to restrict contact sports or neck flexion activities can cause catastrophic spinal cord injury.
- Using standard (non-syndrome-specific) growth charts for children with Down syndrome — Down syndrome has its own growth standards; standard charts will suggest abnormal growth when it may be normal for the child.
- Not recognizing duodenal atresia — 'double bubble' sign on abdominal X-ray in a newborn with Down syndrome and bilious vomiting is a surgical emergency.
8. Philippine Newborn Screening (RA 9288) & Related Genetic Disorders
Exam tips
- RA 9288 = Newborn Screening Act; heel-prick done at 24–72 hours AFTER birth AFTER FEEDING.
- PKU: LOW phenylalanine diet + AVOID ASPARTAME; use special PKU formula. Identified by elevated phenylalanine on NBS.
- G6PD: X-linked recessive; avoid FAVA BEANS, MOTHBALLS (naphthalene), SULFA drugs, PRIMAQUINE — these trigger hemolysis.
- Galactosemia: avoid ALL sources of GALACTOSE (breast milk and cow's milk contain lactose → galactose); use SOY FORMULA.
- NLE Philippine context: G6PD deficiency is one of the most common genetic conditions in the Philippines; neonatal jaundice in a G6PD-deficient newborn should not be treated with mentholated oils or exposed to mothballs.
Key points
- RA 9288 (Newborn Screening Act of 2004) mandates that ALL newborns in the Philippines be screened for heritable metabolic disorders before hospital discharge.
- TIMING: Screening is ideally done 24–72 HOURS AFTER BIRTH (after the infant has received adequate protein feeding for at least 24 hours) — this ensures metabolites have accumulated sufficiently to be detected.
- METHOD: HEEL-PRICK blood spot on a filter paper card (Guthrie card); sent to the Newborn Screening Center (NSC).
- CORE CONDITIONS SCREENED (Philippine NBS Panel): (1) CONGENITAL HYPOTHYROIDISM; (2) CONGENITAL ADRENAL HYPERPLASIA (CAH); (3) PHENYLKETONURIA (PKU); (4) GALACTOSEMIA; (5) G6PD DEFICIENCY; and others including maple syrup urine disease, homocystinuria.
- PHENYLKETONURIA (PKU): Autosomal recessive; deficiency of the enzyme phenylalanine hydroxylase; PHENYLALANINE accumulates → irreversible INTELLECTUAL DISABILITY (brain damage) if untreated. Management: LIFELONG LOW-PHENYLALANINE DIET — restrict HIGH-PROTEIN FOODS (meat, eggs, dairy, nuts) and avoid ASPARTAME (an artificial sweetener that contains phenylalanine, found in diet sodas and sugar-free products); use special PKU metabolic formula.
- G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) DEFICIENCY: X-linked recessive (affects males predominantly); G6PD protects RBCs from oxidative damage; deficiency causes HEMOLYTIC ANEMIA when exposed to OXIDATIVE TRIGGERS. TRIGGERS TO AVOID: FAVA BEANS (broad beans/habas), NAPHTHALENE MOTHBALLS, SULFONAMIDE antibiotics, ANTIMALARIALS (primaquine, chloroquine), NITROFURANTOIN, certain infections. Management: AVOIDANCE of triggers; supportive care during hemolytic episode.
- CONGENITAL HYPOTHYROIDISM: TSH elevated on NBS; treated with LEVOTHYROXINE; early treatment prevents intellectual disability and cretinism.
- GALACTOSEMIA: Autosomal recessive; inability to metabolize GALACTOSE (found in breast milk and cow's milk lactose); presents with vomiting, jaundice, hepatomegaly, and cataracts; treatment is GALACTOSE-FREE DIET (use soy formula, avoid breast milk and cow's milk).
- ROLE OF THE NURSE under RA 9173 and RA 9288: Ensure every newborn is screened before discharge; counsel parents on the process; follow up abnormal results promptly; refer to specialists; provide non-directive genetic counselling support.
Definitions
Phenylketonuria (PKU)
An autosomal recessive inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, leading to accumulation of phenylalanine which is toxic to the developing brain, causing intellectual disability if untreated.
Importance
Classic NBS disorder — identified by heel-prick; managed with a strict low-phenylalanine diet for life. Nurses must know to avoid aspartame.
G6PD Deficiency
An X-linked recessive enzyme deficiency in which red blood cells lack adequate glucose-6-phosphate dehydrogenase, making them vulnerable to hemolysis when exposed to oxidative stressors such as fava beans, mothballs, and certain drugs.
Importance
A very common condition in the Philippines; nurses must educate families on ALL triggers to avoid — fava beans and mothballs are the most commonly tested.
Galactosemia
An autosomal recessive disorder in which the enzyme to convert galactose to glucose is absent; galactose accumulates and damages the liver, eyes (cataracts), and brain. Breast milk and cow's milk contain lactose (which breaks down to galactose), so both must be avoided.
Importance
One of the core NBS conditions in the Philippines; management (galactose-free diet, soy formula) is a frequent NLE focus.
Heel-Prick (Guthrie Test)
The procedure for newborn screening in which a small blood sample is obtained from the newborn's heel and spotted onto a filter paper card for laboratory analysis of multiple metabolic conditions.
Importance
Mandated by RA 9288 for all Philippine newborns; nurses are responsible for performing the procedure correctly and at the right time (24–72 hours after birth, after feeding).
Common mistakes
- Performing the NBS heel-prick BEFORE 24 hours of age or before adequate feeding — results may be falsely normal because metabolites have not yet accumulated.
- Telling parents of a PKU child that they just need to avoid meat — phenylalanine is in ALL high-protein foods AND in aspartame; the diet restrictions are comprehensive.
- Forgetting that ASPARTAME contains phenylalanine — diet sodas and sugar-free products labeled 'Contains Phenylalanine' are PROHIBITED for PKU patients.
- Thinking G6PD only affects adults — it is screened at birth and triggers can cause neonatal hyperbilirubinemia/hemolysis even in newborns.
- Confusing galactosemia treatment (soy formula, no breast milk) with PKU treatment (low-phenylalanine formula, restricted protein) — both require special formulas but are entirely different.
9. Patterns of Inheritance — Quick Reference for NLE
Exam tips
- Quick reference: SICKLE CELL + THALASSEMIA + PKU + GALACTOSEMIA = AUTOSOMAL RECESSIVE; HEMOPHILIA + G6PD + DMD = X-LINKED RECESSIVE; DOWN SYNDROME = TRISOMY 21 (chromosomal).
- X-linked recessive: 'Males affected, females are carriers' — the NLE frequently asks about the carrier mother's risk for children.
- Autosomal recessive: 25% affected (aa), 50% carrier (Aa), 25% normal (AA) — use Punnett square logic.
- Non-directive genetic counselling is a key nursing responsibility under RA 9173 — nurses support and inform; they do NOT direct or make decisions for the family.
Key points
- AUTOSOMAL RECESSIVE: Both parents are carriers (unaffected); each pregnancy has a 25% chance of an affected child, 50% chance of a carrier, 25% chance of a normal child. Examples: SICKLE CELL DISEASE, THALASSEMIA, PKU, CYSTIC FIBROSIS, GALACTOSEMIA.
- X-LINKED RECESSIVE: Gene carried on the X chromosome; males are AFFECTED (have only one X); females are CARRIERS (have a protective second X chromosome); carrier mothers have 50% chance of affected sons, 50% chance of carrier daughters; affected fathers have all carrier daughters and all normal sons. Examples: HEMOPHILIA A and B, G6PD DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY.
- CHROMOSOMAL (NUMERICAL/STRUCTURAL): Abnormal number or structure of chromosomes, not a single gene defect. Examples: DOWN SYNDROME (Trisomy 21) — risk increases with ADVANCED MATERNAL AGE.
- Genetic counselling under RA 9173: The nurse provides NON-DIRECTIVE counselling — explains recurrence risk, supports informed decision-making, and refers to genetics specialists; the nurse does not tell the family what to decide.
- Carrier testing, prenatal diagnosis (amniocentesis, chorionic villus sampling), and pre-implantation genetic diagnosis are options discussed during genetic counselling referrals.
Definitions
Autosomal Recessive Inheritance
A pattern of inheritance in which a disorder manifests only when two copies of the defective gene (one from each parent) are inherited; carriers (one copy) are unaffected.
Importance
Understanding this pattern helps nurses counsel families: 1 in 4 (25%) chance of an affected child with each pregnancy when both parents are carriers.
X-linked Recessive Inheritance
A pattern of inheritance in which the defective gene is located on the X chromosome; males who inherit the gene are affected (only one X), while females with one copy are carriers (protected by second X).
Importance
Explains why hemophilia and G6PD deficiency predominantly affect males; critical for family counselling.
Common mistakes
- Stating that a carrier of an autosomal recessive disease is 'affected' — carriers are clinically NORMAL; they carry one defective gene but have a functional second copy.
- Thinking that all sons of a carrier mother (X-linked recessive) will be affected — only 50% of sons will be affected (50% inherit the normal X).
- Confusing 'dominant' and 'recessive' — in recessive disorders, BOTH copies of the gene must be defective for the disorder to manifest.
- Forgetting that Down syndrome is chromosomal (not single-gene) — it cannot be inherited in the classic Mendelian sense; it is associated with maternal age and non-disjunction.
Connections
- INFECTION PREVENTION CONNECTS LEUKEMIA AND SICKLE CELL DISEASE: Both conditions compromise the immune system (neutropenia in leukemia; functional asplenia in SCD) making infection a top priority in both — the nurse's role in education, vaccination, and early recognition of fever is critical in both.
- BLEEDING PRECAUTIONS CONNECT LEUKEMIA, HEMOPHILIA, AND ITP: All three conditions involve risk of bleeding through different mechanisms (thrombocytopenia, clotting factor deficiency, and thrombocytopenia respectively) — but the nursing safety interventions (soft toothbrush, no aspirin/NSAIDs, no IM injections, no contact sports) overlap significantly.
- AUTOSOMAL RECESSIVE PATTERN CONNECTS SICKLE CELL, THALASSEMIA, PKU, AND GALACTOSEMIA: All share the same 25% recurrence risk per pregnancy for carrier parents; genetic counselling and newborn screening are key nursing roles for all these conditions.
- IRON CONNECTS THALASSEMIA AND IRON-DEFICIENCY ANEMIA — BUT IN OPPOSITE DIRECTIONS: In IDA, the patient needs IRON supplementation; in thalassemia major, the patient has IRON OVERLOAD and needs chelation therapy. A critical distinction — never give iron to a thalassemia patient.
- MICROCYTIC HYPOCHROMIC ANEMIA CONNECTS IDA AND THALASSEMIA: Both produce microcytic, hypochromic RBCs on peripheral smear — but the underlying cause (nutritional deficiency vs. genetic globin chain defect), iron studies (low ferritin in IDA vs. elevated ferritin/iron in thalassemia), and treatment are completely opposite.
- NEWBORN SCREENING (RA 9288) CONNECTS PKU, GALACTOSEMIA, G6PD, AND CONGENITAL HYPOTHYROIDISM: All are detected by the Philippine mandatory heel-prick; early detection and prompt intervention prevent irreversible intellectual disability — emphasizing the nurse's role in public health and early intervention.
- DOWN SYNDROME CONNECTS TO LEUKEMIA RISK: Children with Down syndrome have 10–20 times higher risk of developing leukemia (especially AML) compared to the general population — nurses caring for Down syndrome children must monitor for signs of leukemia.
- X-LINKED RECESSIVE CONNECTS HEMOPHILIA AND G6PD DEFICIENCY: Both are X-linked recessive disorders predominantly affecting males, with carrier females; genetic counselling for families includes the same pattern of inheritance discussion.
- CHEMOTHERAPY MANAGEMENT CONNECTS LEUKEMIA TREATMENT TO GENERAL ONCOLOGY NURSING: Side effects of myelosuppression, mucositis, nausea, and alopecia apply to any child receiving chemotherapy; the same nursing interventions (neutropenic precautions, oral care, antiemetics) are used regardless of the specific cancer type.
- MASLOW'S PHYSIOLOGIC SAFETY AS THE UNIVERSAL PRIORITY: Across ALL hematologic conditions (infection risk, bleeding risk, pain), physiologic safety consistently takes priority over psychosocial needs — this Maslow-based prioritization principle is consistently tested in NLE situational questions.
Quick review questions
A 4-year-old child is admitted with pallor, fever, bone pain, and bruising. Bone marrow aspiration confirms leukemia. Which nursing intervention has the HIGHEST priority based on Maslow's hierarchy of needs?
Answer
Implementing infection prevention/neutropenic precautions — meticulous hand hygiene, private room, no fresh flowers, no raw foods, monitoring temperature, and treating fever as a medical emergency.
Infection is the LEADING CAUSE OF DEATH in leukemia because blast cells crowd out functional neutrophils (neutropenia). Physiologic safety (preventing life-threatening infection) is the highest Maslow priority. The neutropenic child has virtually no immune defense against even normal environmental microorganisms. Fever in this child must be reported and treated immediately as it is often the ONLY sign of a serious infection.
A 7-year-old boy with hemophilia A develops acute pain and swelling of the right knee after playing. What is the correct priority management sequence?
Answer
RICE + Factor VIII replacement: Rest the joint, apply Ice (NOT heat), apply Compression, Elevate the limb, and administer Factor VIII concentrate intravenously.
Hemophilia A is a Factor VIII deficiency. Joint bleeds (hemarthrosis) are the hallmark complication. RICE is first-aid management to limit bleeding and swelling — ice causes vasoconstriction (heat would worsen bleeding). Factor VIII replacement stops the bleeding. Aspirin and NSAIDs must be AVOIDED as they impair platelet function. DDAVP is only appropriate for mild Hemophilia A, not a severe joint bleed.
A 3-year-old child with sickle cell disease is admitted in vaso-occlusive crisis. The nurse's FIRST priority intervention is:
Answer
Aggressive IV and oral hydration — administer IV fluids as ordered and encourage oral fluid intake to reduce blood viscosity and prevent further sickling.
Hydration is the NUMBER-ONE priority in sickle cell crisis management (HHOP: Hydration, Heat, Oxygen, Pain). Dehydration is a major trigger for sickling, and adequate fluid intake dilutes HbS and reduces polymerization. Warmth (NOT cold) is applied to the painful area. Oxygen is given for hypoxia. Opioid analgesics (morphine) are given for pain. Cold must be STRICTLY AVOIDED as it promotes sickling through vasoconstriction.
A mother asks how to give her toddler's liquid iron supplement (ferrous sulfate) for iron-deficiency anemia. Which instruction is INCORRECT and should NOT be given?
Answer
Giving the iron supplement with milk or mixing it into the child's formula to make it easier to take — this is INCORRECT.
Calcium in milk INHIBITS iron absorption by competing for the same transporter in the small intestine. Iron should be given on an EMPTY STOMACH between meals with VITAMIN C (orange juice) to maximize absorption. Liquid iron should be given through a STRAW or dropper to prevent tooth staining. Parents must be warned about DARK/BLACK STOOLS (normal) and keep iron LOCKED UP due to risk of accidental poisoning death.
A child with thalassemia major receives regular blood transfusions. Which COMPLICATION must the nurse monitor for and what treatment is required?
Answer
IRON OVERLOAD (hemosiderosis) — treated with CHELATION THERAPY using deferoxamine (parenteral/subcutaneous) or deferasirox (oral).
Each blood transfusion introduces approximately 200–250 mg of iron into the body, and the body has no mechanism to excrete excess iron. Over years of transfusions, iron accumulates in the heart (cardiomyopathy — leading cause of death), liver (cirrhosis), and endocrine glands (diabetes, growth failure). Chelation therapy removes excess iron by binding it for excretion. Serum ferritin is monitored to guide therapy. NEVER give additional iron supplements to a thalassemia patient.
A 6-year-old child presents with petechiae and bruising that appeared 2 weeks after a viral upper respiratory infection. CBC shows platelet count of 15,000/mm³, WBC 8,000/mm³, and hemoglobin 12.5 g/dL. What condition does this describe and what is the priority nursing diagnosis?
Answer
Immune Thrombocytopenic Purpura (ITP). Priority nursing diagnosis: Risk for Bleeding/Injury related to thrombocytopenia (platelet count <20,000/mm³).
The classic ITP presentation: isolated thrombocytopenia (very low platelets) with NORMAL WBC and hemoglobin in an otherwise well child, following a viral illness by 2–3 weeks. This distinguishes ITP from leukemia (where all cell lines drop). The priority is BLEEDING PRECAUTIONS: avoid contact sports, aspirin/NSAIDs, IM injections; use soft toothbrush; monitor for intracranial hemorrhage (the most serious complication). Many cases resolve spontaneously within 6 months.
A newborn with Down syndrome is being prepared for discharge. Which assessment finding requires IMMEDIATE referral before the baby goes home?
Answer
Congenital heart defect — a cardiac examination and echocardiogram must be performed before or at discharge, as congenital heart defects occur in 50–60% of Down syndrome cases and are the leading cause of morbidity and mortality.
Down syndrome is associated with multiple comorbidities, but CONGENITAL HEART DEFECTS (especially AV canal/endocardial cushion defect, VSD, ASD) are the most life-threatening and must be identified immediately. Duodenal atresia (presenting as bilious vomiting and 'double bubble' on X-ray) is also a surgical emergency. Feeding difficulties from hypotonia require immediate nutritional support. All newborns with Down syndrome also need atlantoaxial instability screening before any contact sport participation.
A nurse is performing newborn screening under RA 9288. When is the BEST time to collect the heel-prick blood sample, and why?
Answer
24–72 hours AFTER BIRTH, AFTER the newborn has been adequately fed (at least 24 hours of protein feeding).
Under RA 9288, heel-prick screening done before 24 hours of age or before adequate protein feeding may produce FALSE NEGATIVE results for conditions like PKU, galactosemia, and others, because the abnormal metabolites have not yet accumulated to detectable levels. Screening AFTER adequate feeding ensures that phenylalanine (PKU), galactose (galactosemia), and other metabolites have built up sufficiently for accurate detection. Nurses must document the exact time and feeding status when collecting the specimen.
A mother of a 2-year-old with G6PD deficiency asks what she should avoid at home. Which item on the following list is the MOST IMPORTANT oxidative trigger to remove from the home immediately?
Answer
NAPHTHALENE MOTHBALLS — these are the most common household oxidative trigger causing hemolytic crisis in G6PD-deficient Filipino children.
G6PD deficiency means RBCs cannot neutralize oxidative stress, leading to hemolysis (RBC destruction) when exposed to oxidative agents. In the Philippine context, MOTHBALLS (naphthalene) are a very common household item used in cabinets and closets, and exposure (even through skin contact with clothing stored with mothballs) can trigger severe hemolysis in G6PD-deficient children. Other triggers include FAVA BEANS (habas/broad beans), sulfonamide antibiotics, antimalarials (primaquine), and nitrofurantoin. Nurses must emphasize removing mothballs from the home as a priority safety measure.
Which inheritance pattern applies to hemophilia A, and what does this mean for the children of a carrier mother?
Answer
X-linked recessive inheritance. For a carrier mother (X^H X^h) who has children with a normal father (X^H Y): 50% of SONS will have hemophilia (X^h Y); 50% of SONS will be normal (X^H Y); 50% of DAUGHTERS will be carriers (X^H X^h); 50% of DAUGHTERS will be completely normal (X^H X^H).
In X-linked recessive disorders, the defective gene is on the X chromosome. Males have only one X chromosome, so if they inherit the defective X from their carrier mother, they will be AFFECTED. Females have two X chromosomes; if they inherit only one defective X, they are CARRIERS (protected by the normal second X). Only daughters who inherit defective X from BOTH parents (carrier mother + affected father) would be affected. This pattern explains why hemophilia classically affects males and is passed through carrier females.
Diagrams
Paediatric Hematologic, Oncologic & Genetic Disorders — Chapter Overview
A comprehensive mind map showing all major disorders covered in this chapter organized by category: oncologic, bleeding disorders, anemia disorders, genetic disorders, and inheritance patterns. Use this as a quick visual reference to see how all topics interconnect.
Nursing Priority Assessment & Care — Leukemia (Pancytopenia Triad)
A clinical decision flowchart showing how the three consequences of pancytopenia (anemia, neutropenia, thrombocytopenia) drive nursing priorities in leukemia. Infection prevention (neutropenic precautions) is clearly identified as the highest priority, followed by bleeding precautions and anemia management.
Sickle Cell Crisis — Priority Nursing Management (HHOP Framework)
A clinical management flowchart for sickle cell crisis, highlighting the HHOP framework (Hydration, Heat, Oxygen, Pain) as priority interventions for vaso-occlusive crisis, while also showing emergency management of sequestration and aplastic crises, and long-term prevention strategies.
Iron Supplement Administration — Safe Practice Guide for Parents
A practical visual guide for nurses teaching parents how to safely administer oral iron supplements. Covers the correct timing, what to take it with (Vitamin C) and what to avoid (milk), how to give liquid iron to prevent tooth staining, expected side effects (black stools), and the critical safety warning about locking up iron supplements to prevent accidental poisoning.
Philippine Newborn Screening (RA 9288) — Process and Key Conditions
A process flowchart showing the complete Philippine Newborn Screening pathway under RA 9288, from timing of the heel-prick procedure to identification and management of the five core conditions (PKU, galactosemia, congenital hypothyroidism, G6PD deficiency, and CAH), and the nurse's role under RA 9173.
Differentiating Key Pediatric Hematologic Conditions for NLE
A clinical decision flowchart designed to help NLE candidates quickly differentiate between major pediatric hematologic conditions based on CBC findings. This mirrors the NLE exam thinking process: identify the pattern of cell line abnormalities, then apply condition-specific management priorities.
Distribution of Inheritance Patterns Among Conditions Covered
A pie chart showing the proportional distribution of inheritance patterns among the key disorders in this chapter. Autosomal recessive conditions (sickle cell, thalassemia, PKU, galactosemia, cystic fibrosis) represent the largest group, followed by X-linked recessive (hemophilia A and B, G6PD deficiency), chromosomal (Down syndrome), and acquired conditions (ITP, leukemia).
Philippine Newborn Screening & Pediatric Health Legislation Timeline
A timeline showing the key Philippine legislation and health programs relevant to pediatric hematologic, oncologic, and genetic disorders, from RA 9173 (Philippine Nursing Act) to current DOH programs. This contextualizes the nurse's role under Philippine law and reinforces the Philippine healthcare delivery context for NLE preparation.
Exam strategy
For the NLE, approach hematologic, oncologic, and genetic disorder questions using a systematic 3-step strategy: (1) IDENTIFY THE DISORDER from the clinical scenario — look for key diagnostic clues: pancytopenia + bone pain = leukemia; hemarthrosis + prolonged PTT + normal platelets = hemophilia; pain crisis + sickle-shaped cells + dehydration trigger = sickle cell disease; microcytic anemia + frontal bossing + transfusion history = thalassemia; petechiae + isolated low platelets + post-viral = ITP; epicanthal folds + hypotonia + simian crease = Down syndrome. (2) APPLY MASLOW'S HIERARCHY to prioritize nursing actions — physiologic safety (infection prevention, bleeding control, airway, pain) ALWAYS takes priority over psychosocial or educational needs. The 'HIGHEST PRIORITY' question almost always has a physiologic safety answer. (3) SELECT THE NURSING ACTION based on the ABC-SAFE framework — Airway first, then Bleeding, then infection Control (neutropenic precautions), then comfort/education. For pharmacology questions, know the key drugs: Factor VIII/IX for hemophilia, RICE for hemarthrosis; hydroxyurea + HHOP for sickle cell; deferoxamine/deferasirox for thalassemia iron overload; ferrous sulfate + Vitamin C for IDA. For Philippine-specific NLE questions, always consider RA 9288 (Newborn Screening), DOH nutritional programs, and the nurse's role under RA 9173 in health education and referral. Finally, use ELIMINATION: any option suggesting aspirin for a bleeding child, giving iron to a thalassemia patient, cold packs for sickle cell crisis, flowers for a neutropenic child, or rectal temperature in a thrombocytopenic child is ALWAYS WRONG.