Paediatric Hematologic, Oncologic & Genetic Disorders - Cheat Sheet
Your last-minute revision companion for NLE-critical paediatric blood, cancer, and genetic disorders. Every item tested; zero fluff. Focus on pathophysiology, priority nursing care, and family teaching.
LEUKEMIA (Most Common Childhood Cancer)
Important facts
- ALL = 75–80% of childhood leukemias; peak 2–5 years; good prognosis with modern chemotherapy (~90% 5-year survival).
- Infection is the LEADING CAUSE OF DEATH in leukemia (neutropenia).
- Classic signs: pallor, fatigue, fever, bone/joint pain, hepatosplenomegaly, lymphadenopathy, bruising/petechiae.
- Diagnosis: bone marrow aspiration (shows >20% blasts).
- Bleeding precautions + neutropenic precautions = cornerstones of nursing care.
Key definitions
Acute Lymphoblastic Leukemia (ALL)
Example
Child presents with pancytopenia (anemia + infection risk + bleeding tendency).
Uncontrolled proliferation of immature lymphocytes (blasts) crowding out bone marrow; most common childhood cancer with peak incidence 2–5 years.
Pancytopenia
Example
Pallor + fever/infection signs + petechiae/bruising in one child.
Simultaneous reduction in RBCs, WBCs (neutrophils), and platelets from marrow crowding by blasts.
Diagrams to know
- Pancytopenia triad cascade: Blast crowding → ↓RBC, ↓WBC, ↓Platelets → Anemia, Infection, Bleeding.
- Neutropenic precautions checklist: meticulous hand hygiene → private room → no live plants/fresh flowers → no raw food → avoid crowds → fever = EMERGENCY → NO rectal temps/suppositories/IM injections.
CHEMOTHERAPY SIDE EFFECTS & MANAGEMENT
Formulas
Ferrous sulfate (iron) dosing = 3–6 mg/kg/day elemental iron (divided doses)
Meaning
Child's weight (kg) × 3–6 mg/kg = total daily elemental iron; NOT necessarily total ferrous sulfate mg.
Watch out
Students confuse 'ferrous sulfate mg' with 'elemental iron mg' — ferrous sulfate contains ~20% elemental iron. A 325 mg ferrous sulfate tablet ≈ 65 mg elemental iron.
When to use
Iron-deficiency anemia in children; take on empty stomach WITH vitamin C, NOT with milk.
Important facts
- Antiemetics (e.g., ondansetron) BEFORE chemotherapy, not after nausea starts.
- Soft-bristle toothbrush + saline/soft mouth care for mucositis; NO alcohol-based mouthwash.
- Monitor weight; vincristine causes peripheral neuropathy + constipation; steroids → increased appetite + mood changes.
- Live vaccines contraindicated during chemo (immunosuppression).
- Hair regrows 3–6 months after therapy; prepare child/family psychosocially.
Key definitions
Mucositis
Example
Child refuses food due to mouth pain; assess for oral candidiasis and use saline rinses.
Chemotherapy-induced mouth ulcers and inflammation from rapid epithelial cell death.
Myelosuppression
Example
Expected nadir (lowest cell count) occurs 7–14 days after chemotherapy.
Bone marrow suppression causing neutropenia (infection), thrombocytopenia (bleeding), and anemia.
Alopecia
Example
Counsel family that this is temporary; offer head coverings/wigs for coping.
Hair loss from chemotherapy; reversible and regrows after therapy completion.
Diagrams to know
- Chemotherapy timeline: Day 0 (chemo given) → Day 3–5 (nausea peak) → Day 7–14 (nadir — lowest cell counts, infection risk highest) → Day 21–28 (recovery, next cycle begins).
HEMOPHILIA (X-Linked Recessive Bleeding Disorder)
Important facts
- Hallmark: prolonged bleeding after minor trauma; easy bruising; hemarthrosis (not spontaneous nosebleeds usually).
- Lab finding: PROLONGED PTT; normal platelet count and bleeding time (distinguish from platelet disorders).
- Mainstay treatment: Factor VIII/IX concentrate replacement.
- DDAVP (desmopressin) can raise Factor VIII in MILD Hemophilia A only (does NOT work for Factor IX or Hemophilia B).
- Acute joint bleed = RICE: Rest, Ice, Compression, Elevation + factor replacement.
- X-linked recessive inheritance: Affected males have carrier mothers; affected male + normal female = all daughters carriers, all sons normal.
Key definitions
Hemophilia A
Example
Affected males; females are carriers. Prolonged bleeding after minor injury; hemarthrosis (joint bleeding).
Factor VIII deficiency; most common (85%) X-linked recessive bleeding disorder.
Hemophilia B (Christmas Disease)
Example
Distinguished from A by specific factor assay; replacement = Factor IX concentrate.
Factor IX deficiency; 10–15% of hemophilia cases; inheritance and management identical to Hemophilia A.
Hemarthrosis
Example
Child refuses to move ankle; acute bleed requires RICE + factor replacement to prevent chronic arthropathy.
Bleeding into joint spaces causing pain, swelling, and progressive joint damage if untreated.
Diagrams to know
- Hemophilia A inheritance pedigree: Mother (carrier) × Father (normal) → Sons 50% affected, Daughters 50% carriers.
- Acute hemarthrosis management: Bleed detected → RICE (immobilize) → Factor VIII/IX concentrate given → Physiotherapy to prevent contractures.
HEMOPHILIA: PRIORITY NURSING CARE & FAMILY TEACHING
Important facts
- AVOID: Aspirin, NSAIDs (impair platelet function), IM injections, rectal temperature/suppositories, contact/collision sports.
- ENCOURAGE: Swimming, cycling, non-contact sports; prolonged pressure to minor bleeding sites (10–15 min).
- Apply prolonged pressure (not massage) + elevation for spontaneous/minor bleeds.
- Medical-alert bracelet/card mandatory (states bleeding disorder and need for factor replacement).
- Teach parents to call for fever, severe pain, swelling, or any major trauma (may need prophylactic factor replacement).
- Soft toothbrush; floss GENTLY; avoid traumatic dental procedures (prophylactic factor may be needed).
- Safe, stimulating home environment; pad furniture corners; avoid glass/sharp objects.
- Emotional support: help child discuss with school, friends, coaches about activity limitations.
Key definitions
Bleeding Precautions
Example
Soft toothbrush, avoid aspirin/NSAIDs, no IM injections (use IV/oral), no contact sports, protective gear (e.g., helmet, knee pads) for activities.
Protective measures to minimize injury risk and bleeding complications.
Diagrams to know
- Hemophilia safety checklist: Home environment → Safe footwear → Protective gear → Avoided activities → Medical alert → Factor supply at home.
SICKLE CELL DISEASE (Autosomal Recessive, HbS)
Important facts
- Autosomal recessive: 25% risk if BOTH parents are carriers; common in African descent, Mediterranean, Middle Eastern populations.
- Crisis TRIGGERS: Hypoxia, dehydration, infection, cold exposure, acidosis, strenuous exertion, high altitude.
- Management of crisis = 'HHOP': Hydration (IV/oral fluids), Heat (warmth, NEVER cold), Oxygen, Pain control (opioids for severe pain).
- Also: REST, treat infection, monitor for complications (acute chest syndrome, stroke).
- Hydroxyurea reduces crisis frequency by raising fetal hemoglobin (HbF); reduces need for transfusions.
- Functional asplenia → higher infection risk (Streptococcus pneumoniae, Haemophilus influenzae); up-to-date immunizations essential.
- Prevent crises: stay well hydrated, avoid extreme cold/exertion, high altitude, strenuous sports; seek care early for fever.
Key definitions
Sickle Cell Disease
Example
Child of African descent; under hypoxia, dehydration, cold, or infection, HbS-containing RBCs sickle → vaso-occlusion → acute pain crisis.
Autosomal recessive disorder producing abnormal hemoglobin S (HbS) that polymerizes under stress, causing RBCs to sickle and occlude vessels.
Vaso-Occlusive (Painful) Crisis
Example
Acute pain + swelling of hands/feet (dactylitis); child in severe distress; can involve any organ.
Most common sickle cell crisis; severe ischemic pain in extremities, abdomen, or back from vessel occlusion by sickled cells.
Splenic Sequestration Crisis
Example
Child presents with pallor, tachycardia, hypotension, and enlarged spleen; rapid transfusion may be needed.
Rapid pooling of sickled cells in spleen → massive splenomegaly, shock, and severe anemia.
Diagrams to know
- Sickle cell crisis cascade: Trigger (hypoxia/dehydration/cold/infection) → HbS polymerization → RBC sickling → Vessel occlusion → Acute pain/organ damage.
- HHOP mnemonic: Hydration, Heat (never cold), Oxygen, Pain control — the four pillars of acute crisis management.
THALASSEMIA (Autosomal Recessive Hemoglobin Synthesis)
Common values
Value
~1000 μg/L
Symbol
μg/L
Quantity
Ferritin level trigger for chelation
Important facts
- Autosomal recessive: 25% risk if both parents are thalassemia trait carriers; common in Mediterranean, Middle Eastern, Asian populations.
- Clinical presentation: severe anemia (Hgb often <7 g/dL) requiring transfusions every 2–4 weeks to maintain Hgb 9–11 g/dL.
- Bone marrow transplantation (BMT) is the only cure; success best in young children with matched-sibling donors (80–90% disease-free survival).
- Iron overload begins after ~15–20 transfusions; preventive chelation started early reduces complications.
- Monitor: growth (use appropriate charts), cardiac function (echocardiography, ECG), endocrine function (thyroid, glucose tolerance, puberty), liver (ultrasound, transaminases).
- Splenic infarction/rupture possible; splenectomy may reduce transfusion need but increases infection risk (functional asplenia).
Key definitions
Beta-Thalassemia Major (Cooley's Anemia)
Example
Infant becomes anemic by 6–12 months; pale, growth delayed; hepatosplenomegaly; characteristic facial features (frontal bossing, maxillary prominence) from marrow expansion.
Severe autosomal recessive disorder of beta-globin chain synthesis → severe microcytic, hypochromic anemia from infancy; requires chronic transfusions.
Iron Overload (Hemosiderosis/Hemochromatosis)
Example
Long-term: cardiac arrhythmias, heart failure, liver cirrhosis, diabetes, hypogonadism, growth failure.
Tissue damage from chronic iron deposition in heart, liver, endocrine organs secondary to repeated transfusions.
Chelation Therapy
Example
Deferoxamine (parenteral, SC/IV infusion); deferasirox (oral, once daily) — major improvement in quality of life and adherence.
Iron-binding pharmacotherapy (deferoxamine, deferasirox) to bind and excrete excess iron.
Diagrams to know
- Thalassemia major pathophysiology: Defective beta-globin synthesis → Unstable hemoglobin → RBC destruction (hemolysis) → Severe anemia → Chronic transfusions → Iron overload → Organ damage.
- Chelation timeline: Start transfusion → After 15–20 transfusions (ferritin >1000 μg/L) → Begin chelation → Monitor iron levels ongoing.
IRON-DEFICIENCY ANEMIA (Most Common Nutritional Anemia)
Formulas
Elemental iron dose = 3–6 mg/kg/day (divided doses)
Meaning
Child's weight in kg × 3–6 mg/kg = total elemental iron daily; ferrous sulfate 325 mg tablet ≈ 65 mg elemental iron.
Watch out
Common mistake: Prescribing mg of ferrous sulfate instead of elemental iron. Always convert: ferrous sulfate (20% elemental), ferrous fumarate (33%), ferrous gluconate (12%).
When to use
Iron-deficiency anemia in infants, toddlers, adolescents; calculate based on elemental iron, not salt form.
Common values
Value
>12 μg/L
Symbol
μg/L
Quantity
Normal serum ferritin (child)
Value
<12 μg/L
Symbol
μg/L
Quantity
Iron-deficiency ferritin
Important facts
- Peak incidence: 6–24 months (rapid growth, cow's milk introduction) and adolescence (growth + menstruation in girls).
- 'Milk baby' syndrome: excessive cow's milk intake (>24 oz/day) displaces iron-rich foods; milk lacks bioavailable iron.
- Lab findings: Microcytic (MCV <70), hypochromic (low MCH), low serum iron, elevated TIBC, low ferritin (<12 μg/L).
- Give ORAL iron 3–6 mg/kg/day elemental iron on EMPTY STOMACH for best absorption.
- Enhance absorption: Give WITH vitamin C (orange juice, citrus); AVOID giving with milk, tea, coffee, antacids (inhibit iron absorption).
- Use a straw or dropper (liquid iron STAINS TEETH); brush teeth immediately after dose.
- Expect dark/tarry-black stools (melena-like appearance) — NORMAL, not bleeding; may cause constipation.
- CRITICAL: KEEP IRON LOCKED AWAY — accidental iron overdose is a leading cause of poisoning death in young children. As few as 10–20 tablets can be fatal.
- Response to iron: reticulocytosis in 3–5 days; Hgb rise ~0.5–1 g/dL/week; continue iron 3–6 months after Hgb normalizes (replete stores).
- Prevention: Iron-rich complementary foods (fortified cereals, meat, beans), delayed cow's milk introduction (after 12 months), iron supplementation programs (PH context).
Key definitions
Iron-Deficiency Anemia
Example
Toddler on excessive cow's milk + limited iron-rich foods; pale, irritable, poor feeding, tachycardia; low Hgb, low MCV, low serum ferritin.
Most common nutritional anemia in children; microcytic, hypochromic RBCs from depleted iron stores (ferritin <12 μg/L, transferrin saturation <16%).
Diagrams to know
- Iron absorption pathway: Ferrous salt (better absorbed than ferric) + Vitamin C → Enhanced absorption; Dairy/antacids/phytates → Reduced absorption.
- Timeline of iron response: Day 0 (dose given) → Day 3–5 (reticulocyte rise) → Week 1–2 (Hgb begins to rise) → Week 4–6 (Hgb normalized) → Continue 3–6 months (store repletion).
IMMUNE THROMBOCYTOPENIC PURPURA (ITP)
Common values
Value
<10,000 platelets/μL
Symbol
/μL
Quantity
Severe thrombocytopenia (bleeding risk)
Important facts
- ITP vs Leukemia: ITP = isolated LOW platelets only; child appears well, normal WBC, normal Hgb. Leukemia = pancytopenia + systemic illness signs.
- Often self-limiting (60–80% resolve spontaneously within 3–6 months in children).
- Severe bleeding (CNS bleed, GI bleed) rare but possible; hospitalize if platelet <10,000/μL or symptomatic.
- Treatment: corticosteroids, IVIG (intravenous immunoglobulin), anti-D (RhoGAM) for Rh-positive children.
- Bleeding precautions: soft toothbrush, avoid aspirin/NSAIDs, no IM injections, avoid contact sports, monitor for signs of bleeding (petechiae, hematuria, black stools, headache).
- Splenectomy for chronic refractory ITP (50–60% long-term remission).
Key definitions
ITP (Immune Thrombocytopenic Purpura)
Example
Otherwise well child presents with petechiae, purpura, easy bruising 1–2 weeks after URI; platelet count <20,000/μL; WBC and Hgb normal.
Acquired autoimmune disorder; platelet destruction by antiplatelet antibodies → isolated thrombocytopenia; often follows viral illness.
Diagrams to know
- ITP diagnosis flow: Suspected low platelets → CBC shows isolated thrombocytopenia, normal WBC/Hgb → Peripheral smear (confirm platelets low, RBC/WBC normal) → Bone marrow aspiration (not routinely done if classic presentation, but shows normal/increased megakaryocytes).
DOWN SYNDROME (Trisomy 21 — Most Common Chromosomal Disorder)
Common values
Value
1/1500
Symbol
births
Quantity
Down syndrome incidence (age 20)
Value
1/30
Symbol
births
Quantity
Down syndrome incidence (age 45)
Important facts
- Physical features: Hypotonia (floppy), upward-slanting palpebral fissures with epicanthal folds, flat facial profile, flat nasal bridge, protruding tongue, short neck, low-set ears, single transverse palmar (simian) crease, wide gap between toes 1–2.
- Associated medical conditions (MUST SCREEN):
- • Congenital heart defects (30–40%): AV canal (endocardial cushion defect), VSD, PDA, Tetralogy of Fallot.
- • GI anomalies (10%): duodenal atresia, Hirschsprung disease, tracheoesophageal fistula.
- • Hypothyroidism (15–20%): screening recommended.
- • Hearing/vision problems: audiometry, ophthalmology screening essential.
- • Atlantoaxial instability (10%): caution with neck flexion; limit contact sports/collision activities.
- • Increased leukemia risk (10–15 × normal); monitor for signs.
- • Higher infection risk: respiratory infections common; immunizations per schedule.
- Feeding: Hypotonia + protruding tongue make feeding difficult; support head, feed slowly, monitor for aspiration risk.
- Growth: Use Down-syndrome-specific growth charts (different from standard population charts).
- Development: Early intervention (PT/OT/Speech therapy) crucial; intellectual disability varies widely (mild to severe); most can attend regular school with support.
- Family support: Genetic counseling, support groups, respite care; risk of recurrence in future pregnancies if parental translocation carrier present (~10%).
Key definitions
Down Syndrome (Trisomy 21)
Example
Newborn with hypotonia, upward-slanting palpebral fissures, protruding tongue, single transverse palmar (simian) crease; genetic testing confirms Trisomy 21.
Most common chromosomal disorder causing intellectual disability; extra chromosome 21 from nondisjunction; incidence increases with advanced maternal age (1/1500 at age 20 → 1/30 at age 45).
Hypotonia
Example
Newborn cannot hold head up; feeding difficult; support with positioning, feeding therapy.
Decreased muscle tone ('floppy baby' appearance); poor head control, weak cry, weak feeding.
Diagrams to know
- Down syndrome features checklist: Face (hypotonia, flat profile, protruding tongue) → Hands (simian crease) → Feet (wide toe gap) → Systems (heart screen, GI, thyroid, hearing, vision).
- Down syndrome associated conditions: Cardiac (40%) → GI (10%) → Thyroid (20%) → Hearing (60%) → Vision (50%) → Atlantoaxial instability (10%) → Leukemia (10–15×).
GENETIC DISORDERS & NEWBORN SCREENING (Philippine Context RA 9288)
Common values
Value
<2 mg/dL
Symbol
mg/dL
Quantity
Phenylalanine level (normal newborn)
Value
>20 mg/dL
Symbol
mg/dL
Quantity
Phenylalanine threshold for PKU diagnosis
Value
2–8 mg/dL
Symbol
mg/dL
Quantity
Phenylalanine target (PKU on diet)
Important facts
- PKU: Autosomal recessive; phenylalanine >20 mg/dL on screening → Confirm with repeat test, plasma amino acids → Start LOW-phenylalanine diet (restrict meat, eggs, dairy, nuts, wheat, aspartame/NutraSweet) → Regular monitoring of blood phenylalanine levels (keep 2–8 mg/dL) → Lifelong adherence.
- Maternal PKU: If mother has untreated high phenylalanine, fetus exposed to teratogenic levels → congenital cardiac defects, cleft palate, microcephaly, intellectual disability → Women with PKU on diet BEFORE conception and throughout pregnancy.
- Congenital Hypothyroidism (CH): Most common congenital endocrine disorder; primary (thyroid dysgenesis, dyshormonogenesis) or secondary (TSH deficiency); screened by TSH + free T4 on newborn screen → Levothyroxine from birth → Good prognosis if treated early; prevents cretinism/intellectual disability.
- Congenital Adrenal Hyperplasia (CAH): 90% due to 21-hydroxylase deficiency (autosomal recessive); salt-wasting crisis possible in newborns → Screened by elevated 17-hydroxyprogesterone → Hydrocortisone + fludrocortisone replacement → Avoid virilization in females with prenatal dexamethasone (controversial).
- Galactosemia: Autosomal recessive; galactose accumulation → cataracts, intellectual disability, hepatomegaly → Screened by low galactose-1-phosphate uridyltransferase → Lactose-free diet from infancy → Regular eye/developmental monitoring.
- G6PD Deficiency: X-linked; hemolysis triggered by oxidative stress → AVOID fava beans, naphthalene (mothballs, cleaning products), sulfa drugs (trimethoprim-sulfamethoxazole, sulfasalazine), nitrates, aspirin, antimalarials (primaquine), certain antibiotics (nitrofurantoin) → Educate family on triggers and safe medications.
- Philippine NBS (RA 9288): Done 24–72 hours post-birth (after ~24–48 h feeding for PKU accuracy); every newborn screened; positive screen = parent notification + repeat confirmatory test + referral to specialist → Early intervention critical for outcomes.
Key definitions
Phenylketonuria (PKU)
Example
Detected by newborn screening heel-prick test (phenylalanine >20 mg/dL); lifelong low-phenylalanine diet prevents neurologic damage.
Autosomal recessive inborn error of metabolism; deficiency of phenylalanine hydroxylase enzyme → phenylalanine accumulation → intellectual disability if untreated.
G6PD Deficiency
Example
Child develops hemolytic anemia after eating fava beans or taking sulfa antibiotics; jaundice, dark urine, pallor.
X-linked recessive glucose-6-phosphate dehydrogenase deficiency → susceptibility to hemolysis from oxidative triggers (fava beans, naphthalene, certain drugs).
Philippine Newborn Screening (RA 9288)
Example
Heel-prick blood test screens for congenital hypothyroidism, CAH, PKU, galactosemia, G6PD deficiency, and emerging conditions; positive screen = immediate confirmatory testing and intervention.
Mandatory screening of every newborn (24–72 hours post-birth) for a panel of congenital/metabolic conditions to prevent disability/death.
Diagrams to know
- Philippine Newborn Screening panel: Congenital hypothyroidism → CAH → PKU → Galactosemia → G6PD deficiency → Emerging conditions (varies by region).
- PKU pathophysiology: Absent phenylalanine hydroxylase → Phenylalanine accumulation → CNS toxicity (white matter damage, seizures, intellectual disability) if untreated; Diet restriction prevents neurologic damage.
INHERITANCE PATTERNS & GENETIC COUNSELING
Important facts
- Autosomal recessive conditions: SICKLE CELL DISEASE, THALASSEMIA, PKU, CYSTIC FIBROSIS, GALACTOSEMIA.
- X-linked recessive conditions: HEMOPHILIA A & B, G6PD DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY.
- Chromosomal (numerical): DOWN SYNDROME (Trisomy 21) — risk increases with ADVANCED MATERNAL AGE (~1/1500 at age 20 → 1/30 at age 45).
- Prenatal screening: Maternal serum markers (quad screen: AFP, hCG, uE3, inhibin A), nuchal translucency ultrasound, cell-free fetal DNA (NIPT); abnormal results → amniocentesis/CVS for confirmatory karyotype.
- Preconception counseling: For couples with family history of genetic disorder, calculate recurrence risk, offer carrier screening (if applicable), discuss reproductive options (prenatal diagnosis, adoption, IVF with PGD).
- Nurse role (RA 9173): Assess genetic history, recognize risk factors, provide non-directive counseling, refer to genetic specialist, support informed decision-making, maintain confidentiality.
Key definitions
Autosomal Recessive Inheritance
Example
Sickle cell disease, thalassemia, PKU, cystic fibrosis, galactosemia; if one child affected, siblings have 25% recurrence risk.
Both parents are carriers (heterozygous); each child has 25% risk of disease, 50% carrier, 25% unaffected non-carrier.
X-Linked Recessive Inheritance
Example
Hemophilia A/B, G6PD deficiency, Duchenne MD; affected boy (XaY) + normal mother (XAXA) → all daughters carriers (XAXa), all sons normal (XAY).
Mothers are carriers; affects males; males have disease (hemizygous), females are carriers (heterozygous); affected males pass carrier status to all daughters but no disease to sons.
Genetic Counseling
Example
Parents of child with sickle cell: explain 25% recurrence risk in future pregnancies, options for prenatal diagnosis, preconception carrier screening for partner.
Non-directive process of explaining inheritance, recurrence risk, testing options, and management; nurse reinforces understanding and supports informed family decisions (RA 9173 scope).
Diagrams to know
- Autosomal recessive Punnett square: Carrier (Aa) × Carrier (Aa) → 25% AA (normal), 50% Aa (carrier), 25% aa (disease).
- X-linked recessive pedigree: Carrier mother (XAXa) × Normal father (XAY) → Sons 50% affected (XaY), 50% normal (XAY); Daughters 50% carriers (XAXa), 50% normal (XAXA).
NEUTROPENIC PRECAUTIONS (Core Nursing Intervention)
Common values
Value
500–1500 /μL
Symbol
/μL
Quantity
Moderate neutropenia (ANC)
Value
<500 /μL
Symbol
/μL
Quantity
Severe neutropenia (ANC)
Important facts
- STRICT HAND HYGIENE: Health care workers, family, visitors — wash hands before/after contact; alcohol-based hand rub if soap/water unavailable.
- PRIVATE ROOM (RECOMMENDED): Preferably negative-pressure room; limits pathogen exposure from other patients/staff.
- NO FRESH FLOWERS/PLANTS: Soil/water harbor Pseudomonas, Aspergillus, other pathogenic organisms.
- NO RAW/UNCOOKED FOODS: Fresh fruits, vegetables, undercooked meat, unpasteurized dairy harbor bacteria (E. coli, Listeria, Salmonella).
- AVOID CROWDS/SICK VISITORS: Minimize exposure to viral/bacterial pathogens; screen family/friends for illness before visit.
- FEVER = EMERGENCY: Even low-grade fever (>38°C/100.4°F) in neutropenic child suggests serious infection (bacteremia, sepsis); IMMEDIATE evaluation, blood cultures, empiric broad-spectrum antibiotics (no delay for culture results).
- NO RECTAL TEMPERATURES/SUPPOSITORIES/ENEMAS: Risk of mucosal perforation → bacteremia; use axillary/tympanic temps instead.
- NO IM INJECTIONS: Risk of hematoma, infection; use IV/oral/SC routes instead.
- AVOID INVASIVE PROCEDURES: Minimize catheterization, intubation risk; IF needed, use strict asepsis.
- DENTAL CARE: Soft toothbrush; monitor for oral infection (thrush, HSV); avoid invasive dental work during severe neutropenia.
- DIET: Cooked/pasteurized foods only; no deli meats, soft cheeses, raw eggs; clean food prep surfaces.
- LIVE VACCINES CONTRAINDICATED: Immunosuppression; use inactivated vaccines only if needed.
Key definitions
Neutropenia
Example
Child on chemotherapy develops ANC <500 → strict isolation precautions, no crowds, fever treated as emergency.
Absolute neutrophil count (ANC) <1500/μL; <500/μL = severe neutropenia, highest infection risk.
Neutropenic Precautions
Example
Private room, meticulous hand hygiene, no fresh flowers, no raw food, screening visitors for illness, fever assessment protocol.
Infection-prevention strategies to minimize pathogenic exposure in severely immunocompromised children.
Diagrams to know
- Neutropenic precautions checklist: Hand hygiene → Private room → No fresh flowers → Cooked foods only → Avoid crowds → Fever protocol → No rectal temps → No IM injections.
BLEEDING PRECAUTIONS (Core Nursing Intervention)
Common values
Value
20,000–50,000 /μL
Symbol
/μL
Quantity
Moderate thrombocytopenia (bleeding risk)
Value
<20,000 /μL
Symbol
/μL
Quantity
Severe thrombocytopenia (spontaneous bleeding)
Important facts
- SOFT-BRISTLE TOOTHBRUSH: Minimize gum trauma; use saline rinse if brushing uncomfortable.
- AVOID ASPIRIN & NSAIDS: Impair platelet function → worsen bleeding; use acetaminophen for pain/fever.
- NO IM INJECTIONS: Risk of hematoma; use IV/oral/SC routes instead.
- SOFT/BLAND FOODS: Avoid hard, spicy, hot foods that traumatize oral mucosa; monitor for oral bleeding.
- AVOID CONTACT/COLLISION SPORTS: No football, hockey, basketball, wrestling; encourage non-contact activities (swimming, cycling, walking).
- PROTECTIVE GEAR: Helmet for cycling, knee/elbow pads for activities; safe environment (pad furniture, remove sharp objects).
- MONITOR FOR BLEEDING SIGNS: Petechiae (small red/purple dots), purpura (larger bruises), hematuria (dark urine), hemoptysis (coughing blood), melena (black tarry stools), epistaxis (nosebleeds), gum bleeding, headache/altered mental status (sign of intracranial bleed).
- APPLY PROLONGED PRESSURE: For minor bleeding (nosebleed, minor wound), apply continuous direct pressure 10–15 minutes WITHOUT MASSAGING; elevate if extremity involved.
- REPORT SEVERE BLEEDING IMMEDIATELY: Heavy nosebleeds, blood in stool/urine, vomiting blood, severe headache, altered mental status, abdominal/chest pain.
- PLATELET TRANSFUSIONS: For severe thrombocytopenia (<10,000/μL) or active bleeding; transfuse to maintain >20,000/μL during chemotherapy.
Key definitions
Thrombocytopenia
Example
Child on chemotherapy develops platelet count 15,000 → strict bleeding precautions to prevent hemorrhage.
Low platelet count (<150,000/μL); <50,000/μL = moderate risk of bleeding; <20,000/μL = severe risk of spontaneous bleeding.
Bleeding Precautions
Example
Soft toothbrush, avoid aspirin/NSAIDs, no IM injections, soft foods, avoid contact sports, soft toys/furniture.
Protective measures to minimize trauma and bleeding risk in thrombocytopenic children.
Diagrams to know
- Bleeding precautions checklist: Soft toothbrush → Avoid aspirin/NSAIDs → No IM injections → Soft foods → Avoid trauma → Monitor bleeding signs → Prolonged pressure for bleeds.
Must remember
LEUKEMIA = Most common childhood cancer (ALL most common type, peak 2–5 yr). Marrow crowding → PANCYTOPENIA (↓RBC + ↓WBC + ↓Platelets) = Anemia + INFECTION (leading cause of death) + Bleeding. INFECTION is the NLE priority focus.
NEUTROPENIC PRECAUTIONS (ANC <500/μL = SEVERE): NO fresh flowers/raw food/crowds/rectal temps/IM injections/suppositories. FEVER = EMERGENCY (often ONLY sign of infection in neutropenia). Live vaccines contraindicated. Hand hygiene meticulous.
HEMOPHILIA = X-linked recessive (affects males; females carriers). Factor VIII def (most common A; 85%) or Factor IX def (B; 15%). Hallmark = HEMARTHROSIS (joint bleeding), easy bruising. PTT PROLONGED; platelets NORMAL. Treat acute bleed: RICE + Factor replace. Avoid aspirin/NSAIDs/IM injections/contact sports.
SICKLE CELL = Autosomal recessive (HbS). Crisis triggers: hypoxia, dehydration, COLD, infection, acidosis. Priority = HHOP: Hydration, Heat (never cold), Oxygen, Pain control (opioids). Hydroxyurea raises HbF → reduces crises. Functional asplenia → high infection risk.
THALASSEMIA MAJOR = Autosomal recessive, severe microcytic anemia from infancy. Chronic transfusions → IRON OVERLOAD (hemosiderosis) damaging heart/liver/endocrine organs. Treat iron overload with CHELATION: Deferoxamine (SC/IV) or Deferasirox (oral). BMT = only cure.
IRON-DEFICIENCY ANEMIA = Most common nutritional anemia (peak 6–24 mo, adolescence). Rx: Ferrous sulfate 3–6 mg/kg/day ELEMENTAL iron (NOT total salt mg!). Give on EMPTY STOMACH WITH vitamin C, NOT with milk. Straw (stains teeth). Tarry stools NORMAL. LOCK AWAY — iron overdose = leading poisoning death in children.
DOWN SYNDROME (Trisomy 21) = Most common chromosomal disorder (autosomal, NOT sex-linked). Features: hypotonia, upslanting eyes, epicanthal folds, protruding tongue, simian crease, wide toe gap. SCREEN FOR: Congenital heart defects (40%), GI anomalies, hypothyroidism, hearing/vision, atlantoaxial instability, leukemia risk. Early intervention critical.
ITP (Immune Thrombocytopenic Purpura) = Isolated LOW platelets (WBC/Hgb normal). Usually post-viral; child appears well (vs leukemia = systemically ill). Self-limiting 60–80%. Bleeding precautions. Treat if <10,000/μL or symptomatic (corticosteroids, IVIG, anti-D).
PHILIPPINE NEWBORN SCREENING (RA 9288) = Done 24–72 h post-birth. Screens: Congenital hypothyroidism, CAH, PKU, galactosemia, G6PD deficiency. PKU: lifelong LOW-phenylalanine diet (avoid aspartame, high-protein foods). G6PD: avoid fava beans, naphthalene (mothballs), sulfa drugs, antimalarials. Early detection prevents disability/death.
INHERITANCE PATTERNS for counseling: Autosomal recessive (both parents carriers, 25% risk) = Sickle cell, thalassemia, PKU, CF, galactosemia. X-linked recessive (mother carrier, affects sons) = Hemophilia A/B, G6PD, Duchenne MD. Chromosomal = Down syndrome (Trisomy 21; risk ↑ with advanced maternal age).
Last minute tips
When you see 'FEVER in a child on chemotherapy or with ANC <500' → Think SEPSIS EMERGENCY. Order blood cultures, start empiric broad-spectrum antibiotics WITHOUT waiting for results. This is a classic NLE trap: don't delay antibiotics for culture confirmation.
IRON-DEFICIENCY ANEMIA vs THALASSEMIA MAJOR both look microcytic on CBC, but KEY difference: Iron-deficiency has LOW reticulocyte count (marrow exhausted of iron); thalassemia has HIGH reticulocyte count (marrow trying hard but can't make normal RBCs). Check ferritin/TIBC to confirm.
X-LINKED RECESSIVE inheritance in males: Affected father CANNOT pass the disease to sons (sons get Y from dad, X from mom). ALL his daughters become carriers. This is high-yield for pedigree questions — memorize this exception!
SICKLE CELL CRISIS: The word 'COLD' is a trigger (cold exposure, cold compresses are WRONG). Always use WARMTH + hydration + oxygen + pain control. Ice/cold worsen sickling — this is a frequent exam trick.
DOWN SYNDROME: Screen for DUODENAL ATRESIA (double bubble sign on X-ray) early — newborn won't feed, vomiting bilious fluid. Also screen cardiac (echo for AV canal defect) and do newborn hearing/vision. These screening items are heavily tested NLE focus.
Comparison tables
LEUKEMIA vs APLASTIC ANEMIA vs ITP — Quick Differentiation
| Feature | Leukemia (ALL) | Aplastic Anemia | ITP |
|---|---|---|---|
| RBC Count | ↓ (anemia) | ↓↓ (severe anemia) | Normal |
| WBC Count | ↑ (blasts present) | ↓↓ (pancytopenia) | Normal |
| Platelet Count | ↓ (thrombocytopenia) | ↓↓ (severe) | ↓↓ (isolated thrombocytopenia) |
| Bone Marrow | Hypercellular, >20% blasts | Hypocellular, aplasia | Normal/↑ megakaryocytes |
| Clinical Appearance | Systemically ill (fever, adenopathy, hepatosplenomegaly) | Pale, fatigued, possible bleeding (but NOT adenopathy/splenomegaly) | Well-appearing; petechiae/bruising only |
HEMOPHILIA A vs HEMOPHILIA B — Virtually Identical Management
| Feature | Hemophilia A | Hemophilia B (Christmas Disease) |
|---|---|---|
| Deficient Factor | Factor VIII | Factor IX |
| Incidence | ~80–85% of hemophilia | ~10–15% of hemophilia |
| Inheritance | X-linked recessive | X-linked recessive |
| Hallmark Bleeding | Hemarthrosis, easy bruising | Hemarthrosis, easy bruising |
| PTT (Partial Thromboplastin Time) | PROLONGED | PROLONGED |
| Platelet Count | NORMAL | NORMAL |
| Bleeding Time | NORMAL | NORMAL |
| Treatment | Factor VIII concentrate + DDAVP (mild cases) | Factor IX concentrate (DDAVP does NOT work) |
| Family Teaching | Avoid aspirin/NSAIDs, IM injections, contact sports; wear medical alert; prolonged pressure for bleeds | Avoid aspirin/NSAIDs, IM injections, contact sports; wear medical alert; prolonged pressure for bleeds |
SICKLE CELL CRISIS TYPES & MANAGEMENT
| Crisis Type | Pathophysiology | Signs/Symptoms | Management Priority |
|---|---|---|---|
| Vaso-Occlusive (Painful) Crisis | Sickling under stress (hypoxia, dehydration, cold, infection) → RBC occlusion of vessels | Acute severe pain (extremities, abdomen, back), swelling (dactylitis — hands/feet), fever | HHOP: Hydration, Heat (warmth), Oxygen, Pain control (opioids); rest; treat infection |
| Splenic Sequestration Crisis | Sudden pooling of sickled cells in spleen → massive splenomegaly | Acute anemia (Hgb drops >2 g/dL), pallor, tachycardia, hypotension, shock, enlarged spleen | EMERGENCY: Rapid IV fluids, transfusion to maintain Hgb; may need splenectomy if recurrent |
| Aplastic Crisis | Temporary halt in RBC production (often viral trigger, e.g., Parvovirus B19) | Severe anemia (Hgb very low), reticulocytopenia (LOW retic count — key finding), fatigue, pallor | Supportive care: transfusion as needed; self-limited; monitor closely for recovery |
| Acute Chest Syndrome | Sickling in pulmonary vasculature → pulmonary infarction/infection | Chest pain, dyspnea, fever, hypoxia, infiltrate on CXR (may mimic pneumonia) | O2, hydration, antibiotics (cover atypical organisms), consider exchange transfusion for severe hypoxia; ICU monitoring |
THALASSEMIA MAJOR vs IRON-DEFICIENCY ANEMIA — Microcytic Anemias Compared
| Feature | Thalassemia Major | Iron-Deficiency Anemia |
|---|---|---|
| Inheritance | Autosomal recessive (beta-globin defect) | Nutritional (inadequate iron intake/absorption) |
| Age of Onset | By 6–12 months (severe anemia) | 6–24 months (rapid growth), adolescence (menstruation) |
| Hemoglobin Level | Often <7 g/dL; requires transfusions every 2–4 weeks | Mild to moderate (7–10 g/dL); corrects with iron supplementation |
| RBC Indices | Microcytic (MCV <70), hypochromic; target cells on smear | Microcytic (MCV <70), hypochromic |
| Reticulocyte Count | HIGH (marrow responding to chronic anemia) | LOW (marrow suppressed by lack of iron) |
| Iron Studies | Elevated ferritin (from transfusions + hemolysis) | Low serum iron, elevated TIBC, low ferritin |
| Treatment | Chronic transfusions → iron chelation (deferoxamine/deferasirox); BMT only cure | Oral ferrous sulfate 3–6 mg/kg/day elemental iron; dietary iron; prevent future episodes |
| Complications | Iron overload (cardiac, hepatic, endocrine dysfunction), splenectomy sequelae, growth failure | Rare if treated; poor developmental outcomes if prolonged severe anemia |
AUTOSOMAL RECESSIVE vs X-LINKED RECESSIVE — Inheritance Pattern Quick Reference
| Feature | Autosomal Recessive | X-Linked Recessive |
|---|---|---|
| Inheritance Pattern | Both parents are carriers (heterozygous); disease appears in both males and females equally | Mother is carrier (heterozygous); affects males primarily (hemizygous); females rare (homozygous) |
| Recurrence Risk (Both Parents Carriers) | 25% affected, 50% carrier, 25% unaffected per pregnancy | If mother carrier: 50% sons affected, 50% daughters carriers (assuming father unaffected) |
| Affected Male × Normal Female | ALL children are carriers (if both parents homozygous, no affected children possible) | ALL daughters are carriers; ALL sons are unaffected (receives Y from father, X from mother) |
| Examples | Sickle cell, thalassemia, PKU, cystic fibrosis, galactosemia, Duchenne MD (also AR variants) | Hemophilia A/B, G6PD deficiency, Duchenne MD (X-linked form is severe) |
Diagrams
Paediatric Hematologic, Oncologic & Genetic Disorders — Complete Overview
Comprehensive mind map showing all major paediatric hematologic, oncologic, and genetic disorders covered in this chapter, organized by pathophysiology, clinical features, management, and nursing priorities. This visual organizes all 8-10 major conditions and their relationships for quick topic review.
Management of Acute Leukemic Crisis: Infection vs Bleeding
Decision tree showing how a nurse triages and manages a child with leukemia on chemotherapy who develops both infection risk (neutropenia) and bleeding risk (thrombocytopenia). Shows fever protocol (emergency, blood cultures, empiric antibiotics) and bleeding assessment steps. Critical for NLE simulation questions.
Management of Sickle Cell Crisis: HHOP Priority
Flowchart showing HHOP (Hydration, Heat, Oxygen, Pain) management priority for sickle cell vaso-occlusive crisis, plus decision points for other crisis types (splenic sequestration, acute chest syndrome). Also includes prevention strategies to avoid future crises. Directly maps to NLE case scenarios.
Iron Therapy Administration & Monitoring (Ferrous Sulfate)
Detailed flowchart for iron therapy calculation, administration technique, drug interactions, side effects, and safety monitoring. Emphasizes key NLE points: empty stomach, vitamin C, straw use, dark stools as normal, and critical lock-away safety for poisoning prevention.
X-Linked Recessive Inheritance (Hemophilia Example): Genetic Counseling Flow
Pedigree-style flowchart showing X-linked recessive inheritance pathways for hemophilia, demonstrating how affected fathers cannot pass disease to sons (sons get Y), but all daughters become carriers. Includes counseling steps. Essential for NLE questions on genetic prediction and family risk.
Down Syndrome (Trisomy 21): Screening & Management Priorities
Comprehensive management flowchart for Down syndrome from diagnosis through multi-system screening and nursing care. Shows all critical complications to screen for (cardiac, GI, thyroid, sensory, musculoskeletal, hematologic) with specific tests and findings. Emphasizes early intervention and family support. Directly addresses NLE case management questions.
Fever Response Protocol in Neutropenic Child: Step-by-Step Sequence
Sequence diagram showing the critical timeline and interactions in managing fever in a neutropenic child. Emphasizes the EMERGENCY nature of fever in ANC <500, immediate blood cultures, and—critically—empiric broad-spectrum antibiotics WITHOUT waiting for culture results. This is a high-yield NLE scenario where delayed antibiotics is a common wrong answer.
Sickle Cell Disease: Health States & Crisis Transitions
State diagram showing how sickle cell disease transitions from baseline health through various crisis states (vaso-occlusive, sequestration, aplastic, acute chest syndrome), management pathways, and return to baseline. Shows how triggers (cold, dehydration, infection, hypoxia, acidosis) can lead to different crisis types. Essential for understanding NLE case flow and complication progression.
Timeline: Childhood Leukemia Treatment & Chemotherapy Cycle
Timeline showing the progression of ALL treatment from diagnosis through multi-phase chemotherapy, highlighting critical nursing care windows (nadir = infection/bleeding risk highest), toxicity management, and recovery milestones. Shows when neutropenic/bleeding precautions are most critical and why fever is an emergency in these children.