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Hematologic Disorders

Unit 4 · Topic 29Hematologic Disorders
1.Overview & Pathophysiology

Blood disorders in children fall into three groups: red cell problems (anemias), bleeding disorders, and bone marrow failure. Normal hemoglobin changes with age — high at birth, lowest at about 2–3 months ("physiologic nadir"), then rising. WHO (2024) anemia cutoffs: Hb below 10.5 g/dL (105 g/L) at 6–23 months, below 11 g/dL (110 g/L) at 24–59 months, below 11.5 g/dL (115 g/L) at 5–11 years, and below 12 g/dL (120 g/L) at 12–14 years. Leukemia is covered in "Childhood Cancer and Treatment"; adult anemias and transfusion in the Medical-Surgical topic "Anemias."

Iron-deficiency anemia (IDA) — the most common nutritional disorder of childhood. Iron stores from pregnancy last about 4–6 months in term infants (less in preterm infants). Peaks: 6–24 months and adolescence (growth spurt, menstruation). Causes: exclusive breastfeeding beyond 4–6 months without iron-rich foods, cow's milk before 12 months or too much cow's milk in toddlers (low iron, blocks iron absorption, and can cause occult intestinal blood loss), and poor diet. Result: microcytic, hypochromic anemia. Even without anemia, iron deficiency in early childhood can impair neurodevelopment.

Sickle cell disease (SCD) — autosomal recessive. Hemoglobin S polymerizes when deoxygenated, making red cells rigid and sickle-shaped; they block small vessels (vaso-occlusion) and hemolyze early. Triggers: hypoxia, dehydration, infection, fever, cold, acidosis, stress. Symptoms begin around 4–6 months as fetal hemoglobin (HbF) falls. Repeated splenic infarction causes functional asplenia in early childhood → high risk of sepsis from encapsulated bacteria (Streptococcus pneumoniae). Sickle cell trait (HbAS) is usually symptom-free. (Consistent with Medical-Surgical "Anemias.")

Thalassemia — inherited reduced production of globin chains. Beta-thalassemia major causes severe anemia from about 6 months, bone marrow expansion (frontal bossing, maxillary overgrowth), and hepatosplenomegaly. Treatment with regular transfusions leads to iron overload (heart, liver, endocrine organs) — the main long-term cause of death.

G6PD deficiency — X-linked enzyme defect; oxidant stress (fava beans, naphthalene mothballs, certain drugs, infection) triggers acute hemolysis.

Hemophilia — X-linked recessive deficiency of factor VIII (hemophilia A, about 80–85%) or factor IX (hemophilia B); affects mainly boys, mothers are carriers. Severity follows factor level: severe below 1%, moderate 1–5%, mild 5–40%. Hallmark: bleeding into joints (hemarthrosis) — knees, ankles, elbows — and muscles; repeated joint bleeds destroy cartilage (hemophilic arthropathy).

Immune thrombocytopenia (ITP) — autoantibodies destroy platelets, often 1–4 weeks after a viral infection in a previously healthy child aged 2–6 years. Most children recover within 6 months regardless of treatment.

Aplastic anemia — bone marrow failure with pancytopenia (anemia, neutropenia, thrombocytopenia); inherited or acquired (drugs, viruses, immune).

2.Assessment Findings
ConditionKey findings
IDAPallor, fatigue, irritability, poor appetite, pica, tachycardia, systolic murmur; toddler who drinks large amounts of milk and looks chubby but pale ("milk baby"); koilonychia (spoon nails) in severe cases
SCDDactylitis (hand-foot syndrome) — painful swollen hands and feet, often the first sign in infancy; pain crises in bones, chest, abdomen; jaundice, pallor; fever; enlarged spleen in infants (later shrinks); priapism; growth delay
SCD emergenciesAcute chest syndrome: chest pain, fever, cough, tachypnea, hypoxemia, new infiltrate. Stroke: weakness, speech change, seizure, altered consciousness. Splenic sequestration: sudden pallor, rapidly enlarging spleen, abdominal pain, shock. Aplastic crisis (parvovirus B19): severe pallor, low reticulocytes
Thalassemia majorPallor, growth failure, hepatosplenomegaly, bone deformities; later signs of iron overload (bronze skin, diabetes, heart failure, delayed puberty)
HemophiliaProlonged bleeding after circumcision, dental work, or minor injury; easy bruising; early joint bleed: tingling, warmth, or stiffness before visible swelling; then pain, swelling, limited motion; muscle bleeds; hematuria; intracranial hemorrhage (headache, vomiting, irritability, drowsiness)
ITPSudden petechiae, purpura, bruising, nosebleeds, gum bleeding in an otherwise well child; no hepatosplenomegaly or lymphadenopathy (their presence suggests leukemia)
Aplastic anemia / marrow suppressionPallor and fatigue (anemia), fever and infections (neutropenia), petechiae and bleeding (thrombocytopenia)
3.Diagnostics
TestKey findings
CBC and red cell indicesIDA: low Hb, low MCV and MCH (microcytic, hypochromic), high RDW
Iron studiesIDA: low ferritin (earliest and most specific), low serum iron, high TIBC, low transferrin saturation
Therapeutic trial of ironA rise in Hb of 1 g/dL or more after about 4 weeks confirms IDA
Hemoglobin electrophoresis or HPLCSCD (HbS), thalassemia; SCD is detected by newborn screening
Peripheral smearSickle cells; target cells (thalassemia); schistocytes
Transcranial Doppler (TCD)Yearly in children with HbSS from age 2 to 16 — high velocity = high stroke risk → chronic transfusion
Coagulation testsHemophilia: prolonged aPTT; normal PT and platelet count; factor VIII or IX assay confirms type and severity
Platelet countITP: isolated low platelets, often below 20,000/µL (20 × 10⁹/L); other cell lines normal
Bone marrow biopsyAplastic anemia, leukemia; not needed for typical ITP
Serum ferritin, liver and cardiac MRIIron overload in transfused children
4.Medical Management

IDA

  • Oral elemental iron about 3 mg/kg/day (often once daily), continued for about 3 months after Hb normalizes to refill stores
  • Correct the diet: limit cow's milk, add iron-rich foods; treat blood loss
  • Prevention: iron-fortified formula; breastfed infants receive iron 1 mg/kg/day from 4 months until iron-rich foods are eaten; no cow's milk before 12 months; toddlers no more than about 16–24 oz (480–720 mL) of milk daily

SCD

  • Penicillin prophylaxis from about 2 months until at least 5 years; all routine vaccines plus pneumococcal and meningococcal vaccines; yearly influenza
  • Fever 38.5 °C (101.3 °F) or higher is an emergency: CBC, blood culture, and IV ceftriaxone promptly
  • Hydroxyurea offered from 9 months of age (increases HbF, reduces pain crises and acute chest syndrome)
  • Pain crisis: rapid analgesia (first dose within about 60 minutes, often IV opioids) plus hydration; oxygen only if hypoxemic; avoid meperidine
  • Acute chest syndrome: antibiotics, oxygen, incentive spirometry, transfusion
  • Stroke: emergency exchange transfusion; chronic transfusion for prevention when TCD is abnormal
  • Curative options: stem cell transplant, gene therapy

Thalassemia major — transfusion every 3–5 weeks; iron chelation when ferritin rises; folic acid; splenectomy in some (then vaccines and penicillin); stem cell transplant or gene therapy.

Hemophilia

  • Replace the missing factor promptly — ideally at home at the first sign of bleeding; regular prophylaxis is standard for severe disease
  • Emicizumab (hemophilia A): subcutaneous prophylaxis every 1–4 weeks; it does not treat an acute bleed
  • Desmopressin for mild hemophilia A; tranexamic acid for mouth and nose bleeds (not for hematuria — clots can block the ureters)
  • Inhibitors (antibodies against factor) need bypassing agents

ITP — observation for children with no or mild bleeding (skin only), regardless of platelet count; for bleeding: short course of corticosteroids or IVIG; thrombopoietin receptor agonists for chronic ITP.

Aplastic anemia — stem cell transplant, or immunosuppression with antithymocyte globulin (ATG) and cyclosporine; transfusion and infection support.

Drug safety (doses weight-based and verified against a pediatric reference)

DrugKey safety points
Oral ironGive between meals with water or vitamin C–rich juice, not with milk, tea, or antacids; liquid iron stains teeth — use a dropper toward the back of the mouth and brush teeth; dark green-black stools are expected; constipation, nausea; iron overdose is a leading cause of poisoning in young children — keep locked away
Penicillin V (SCD prophylaxis)Twice daily without missing doses; allergy
HydroxyureaMyelosuppression — regular CBC; teratogenic (contraception in adolescents); nail and skin darkening
OpioidsRespiratory depression and sedation — monitor RR, SpO₂, sedation score; constipation
DeferoxamineSlow SC or IV infusion; hearing and vision toxicity (yearly tests), Yersinia infection, site reactions
DeferasiroxKidney and liver toxicity, GI bleeding — monitor creatinine and liver tests
DeferiproneAgranulocytosis — weekly ANC
Factor concentratesAllergic reactions; development of inhibitors; strict IV technique
EmicizumabThrombotic microangiopathy and thrombosis if activated prothrombin complex concentrate (over 100 U/kg/24 h) is used for breakthrough bleeds; interferes with aPTT-based tests — tell the lab; injection-site reactions
Antithymocyte globulin (ATG)Infusion reactions and anaphylaxis (premedicate), serum sickness
DesmopressinHyponatremia and seizures, especially in young children — restrict fluids for 24 hours; not in children under 2
CorticosteroidsCushingoid (moon) face, weight gain, mood change, hyperglycemia, hypertension, infection
IVIGInfusion reactions, headache, aseptic meningitis — monitor vital signs
CyclosporineNephrotoxicity (monitor creatinine, electrolytes including K⁺ and Mg²⁺), hypertension, gum overgrowth, infection
Aspirin and NSAIDsAvoid in hemophilia and ITP (platelet dysfunction); use acetaminophen
5.Nursing Interventions

Listed in priority order.

  1. Life-threatening complications first
    • SCD: assess respiratory status and SpO₂ and neurologic signs first; report chest pain, hypoxemia, focal weakness, sudden pallor with enlarging spleen, or fever at once
    • Hemophilia: any head injury, neck or throat swelling, or abdominal pain is treated as a serious bleed — give factor and notify immediately
    • Fever with neutropenia (marrow failure, chemotherapy): blood cultures and IV antibiotics within 60 minutes
  2. Oxygenation and perfusion — rest, oxygen if hypoxemic; transfuse as ordered using the same safety checks as adults (two identifiers, normal saline only, stay for the first 15 minutes, finish within 4 hours)
  3. Pain and hydration (SCD crisis) — rapid analgesia on schedule with reassessment; IV and oral fluids about 1–1.5 times maintenance (avoid overload); warmth, no cold packs; incentive spirometry every 1–2 hours while awake
  4. Bleeding prevention and control
    • No IM injections (use SC or oral; vaccines SC where possible, or IM with the smallest needle and 5 minutes of firm pressure); avoid rectal temperatures; apply pressure for at least 5–10 minutes after venipuncture
    • Hemophilia joint bleed: give factor first, then rest, ice, compression, and elevation; immobilize briefly, then physiotherapy to restore motion
    • ITP or low platelets: soft toothbrush, avoid contact sports and rough play, no NSAIDs
  5. Infection prevention — hand hygiene; penicillin adherence in SCD; for severe neutropenia, avoid sick contacts, practice safe food handling (washed produce, fully cooked meat and eggs)
  6. Growth, development, and family support — chronic illness, genetic counseling, school plans
6.Client Education
  • Iron-rich foods: red meat, liver, fish, poultry, beans, iron-fortified cereals, dark green vegetables; eat vitamin C foods with them; limit milk to 16–24 oz a day in toddlers
  • SCD: fluids every day, avoid temperature extremes, high altitude, and exhausting exercise; take the child's temperature when ill — 38.5 °C (101.3 °F) or higher means go to the hospital now; learn to feel the spleen and seek care for sudden pallor or a larger spleen; never skip penicillin
  • Hemophilia: medical ID; home factor infusion; treat early at the first "tingling" or warmth in a joint; safe activities — swimming, cycling with a helmet; avoid contact sports (football, wrestling); regular dental care with soft brush; genetic counseling for carrier testing of female relatives
  • ITP: most children recover; avoid aspirin and ibuprofen; soft toothbrush; helmets; report headache, vomiting, blood in urine or stool, or heavy nosebleeds
  • Thalassemia: chelation adherence is life-saving; do not take iron supplements; hepatitis B vaccination
  • G6PD deficiency: avoid fava beans, mothballs, and listed drugs
7.Complications & Red Flags
ComplicationWhat to watch for
Stroke (SCD)Weakness, speech change, seizure, severe headache
Acute chest syndromeChest pain, fever, hypoxemia, tachypnea
Splenic sequestrationSudden pallor, enlarging spleen, tachycardia, shock
Sepsis (SCD, neutropenia)Fever, lethargy, poor perfusion
Intracranial hemorrhage (hemophilia, severe ITP)Headache, vomiting, irritability, drowsiness
Iron overloadHeart failure, arrhythmia, diabetes, liver disease
Iron poisoningVomiting, bloody diarrhea, then shock and liver failure
8.High-Yield Points
  • IDA: low Hb, low MCV, low ferritin, high TIBC; cow's milk excess is the classic toddler cause
  • Iron: between meals with vitamin C, not with milk; straw or dropper to protect teeth; black stools normal; keep locked away
  • SCD: dehydration, hypoxia, cold, and infection trigger sickling; fever 38.5 °C or higher = emergency (functional asplenia)
  • SCD priorities: respiratory and neurologic assessment; rapid analgesia plus hydration; no cold packs
  • Penicillin prophylaxis to age 5; TCD yearly from 2 to 16; hydroxyurea from 9 months
  • Thalassemia: transfusion causes iron overload → chelation; do not add iron
  • Hemophilia: X-linked, prolonged aPTT, normal PT and platelets; earliest joint bleed sign = tingling or warmth; factor first, then rest, ice, compression, elevation; no IM injections, no aspirin
  • ITP: petechiae after a viral illness; observe if bleeding is mild; avoid contact sports and NSAIDs; steroids cause moon face
  • Cyclosporine → nephrotoxicity (monitor creatinine and electrolytes)

Country Notes

United States

  • All states screen newborns for sickle cell disease; many children with SCD receive care in comprehensive sickle cell centers.
  • Hemoglobin screening at about 12 months of age is recommended by the AAP.

Philippines

  • G6PD deficiency is included in the expanded newborn screening panel under the Newborn Screening Act (RA 9288); families receive lists of foods, chemicals, and drugs to avoid.
  • Iron-deficiency anemia is common in infants, young children, and adolescent girls; iron supplementation is part of DOH micronutrient programs.

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