HEMATOLOGICAL DISORDERS
Iron Deficiency Anemia (IDA)
Definition:
Iron deficiency anemia (IDA) is the most common nutritional deficiency in children, characterized by low hemoglobin levels due to inadequate iron stores.
Causes & Risk Factors:
- Inadequate dietary intake (Exclusive cow’s milk diet, vegetarian diet)
- Prematurity or low birth weight
- Chronic blood loss (Hookworm infestation, GI bleeding, Menorrhagia)
- Malabsorption (Celiac disease, Crohn’s disease)
Signs & Symptoms:
- Pallor (Pale skin and conjunctivae)
- Fatigue, irritability, poor concentration
- Pica (Craving for non-nutritive substances like clay, ice, dirt)
- Koilonychia (Spoon-shaped nails)
- Glossitis (Smooth, swollen tongue)
Complications:
- Delayed cognitive and motor development
- Increased susceptibility to infections
Diagnosis:
- Complete Blood Count (CBC):
- ↓ Hemoglobin, ↓ Hematocrit
- ↓ Mean Corpuscular Volume (MCV) → Microcytic anemia
- ↓ Mean Corpuscular Hemoglobin Concentration (MCHC) → Hypochromic anemia
- Iron Studies:
- ↓ Serum iron, ↓ Ferritin, ↑ Total Iron Binding Capacity (TIBC)
- Peripheral Smear:
- Microcytic, hypochromic RBCs
Management:
- Oral Iron Supplementation (Ferrous sulfate 3–6 mg/kg/day)
- Iron-rich diet (Green leafy vegetables, red meat, fortified cereals)
- Treat underlying causes (Deworming, treating GI bleed)
Thalassemia
Definition:
Thalassemia is a genetic hemoglobinopathy characterized by defective hemoglobin synthesis, leading to chronic hemolysis and anemia.
Types:
- Alpha Thalassemia – Deletion of α-globin genes
- Beta Thalassemia (Major, Intermedia, Minor) – Mutation in β-globin genes
Signs & Symptoms (Severe cases – Beta Thalassemia Major):
- Severe anemia requiring transfusions
- Hepatosplenomegaly (Massive spleen and liver enlargement)
- Frontal bossing, Chipmunk facies (Marrow expansion leading to skeletal deformities)
- Growth retardation and delayed puberty
Complications:
- Iron overload (From frequent transfusions → Organ damage, Heart failure)
- Infections (Due to splenectomy in some cases)
Diagnosis:
- CBC: Severe microcytic, hypochromic anemia
- Hemoglobin Electrophoresis:
- Beta-Thalassemia Major: ↑ HbF, ↓ HbA
- Alpha-Thalassemia: Abnormal HbH or Hb Bart’s
- Peripheral Smear: Target cells, Nucleated RBCs
Management:
- Regular blood transfusions (Every 2-4 weeks for Beta-Thal Major)
- Iron chelation therapy (Deferasirox, Deferoxamine)
- Splenectomy (For massive splenomegaly with transfusion dependence)
- Bone marrow transplant (Curative in select cases)
Hemophilia
Definition:
Hemophilia is a X-linked recessive bleeding disorder due to deficiency of clotting factors, leading to prolonged bleeding.
Types:
- Hemophilia A: Factor VIII deficiency (Most common)
- Hemophilia B (Christmas Disease): Factor IX deficiency
Signs & Symptoms:
- Spontaneous bleeding into joints (Hemarthrosis, knee & elbow most common)
- Easy bruising, excessive bleeding after minor trauma
- Deep muscle hematomas
- Prolonged bleeding after surgery or dental extraction
Complications:
- Hemarthrosis leading to joint destruction (Hemophilic arthropathy)
- Intracranial hemorrhage
- Pseudotumors (Cystic masses due to repeated bleeding in soft tissue or bones)
Diagnosis:
- Prolonged Activated Partial Thromboplastin Time (aPTT) (Intrinsic pathway defect)
- Normal Prothrombin Time (PT) and Bleeding Time
- Factor Assay: ↓ Factor VIII (Hemophilia A), ↓ Factor IX (Hemophilia B)**
Management:
- Factor Replacement Therapy (Recombinant Factor VIII or IX)
- Desmopressin (DDAVP) for mild Hemophilia A
- Avoid NSAIDs (Increases bleeding risk)
Immune Thrombocytopenic Purpura (ITP)
Definition:
ITP is an autoimmune disorder characterized by destruction of platelets due to antiplatelet antibodies.
Types:
- Acute ITP: Common in children, post-viral, self-limiting
- Chronic ITP: Lasts >6 months, seen in adults
Signs & Symptoms:
- Petechiae, purpura, ecchymosis (Easy bruising, non-blanching rash)
- Epistaxis (Nosebleeds), gum bleeding
- No hepatosplenomegaly (Differentiates from leukemia)
Complications:
- Intracranial hemorrhage (Rare but serious in severe thrombocytopenia)
Diagnosis:
- CBC: Isolated thrombocytopenia (<100,000/μL), Normal WBC and RBC
- Bone Marrow Biopsy: Normal or increased megakaryocytes (If atypical presentation)
Management:
- Observation (If platelets >30,000/μL and no bleeding)
- IV Immunoglobulin (IVIG) or Corticosteroids (If severe thrombocytopenia <20,000/μL)
- Splenectomy (For refractory cases)
Sickle Cell Disease (SCD)
Definition:
Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy caused by a mutation in the β-globin gene, leading to abnormal hemoglobin S (HbS) and sickling of RBCs.
Signs & Symptoms:
- Vaso-occlusive crisis (Severe pain in bones, joints, chest, abdomen)
- Dactylitis (Painful swelling of hands and feet in infants)
- Jaundice (Due to hemolysis)
- Splenomegaly (Early childhood) → Autosplenectomy (Later due to repeated infarctions)
Complications:
- Acute Chest Syndrome (Fever, hypoxia, chest pain, lung infiltrates on X-ray)
- Stroke (Common in children with SCD, requires Transcranial Doppler screening)
- Aplastic Crisis (Triggered by Parvovirus B19 infection, causes sudden anemia)
Diagnosis:
- CBC: Normocytic, normochromic anemia
- Hemoglobin Electrophoresis: HbS present, HbA absent in homozygous SCD
- Peripheral Smear: Sickle-shaped RBCs, Howell-Jolly bodies (If asplenic)**
Management:
- Hydroxyurea (Increases fetal hemoglobin, reduces crisis frequency)
- Pain control (NSAIDs, Opioids for severe crises)
- Blood transfusions (For severe anemia, stroke prevention)
- Bone marrow transplant (Curative in select cases)
Key Points for Competitive Exams
✔️ Most common anemia in children? – Iron Deficiency Anemia
✔️ Best screening test for thalassemia? – Hemoglobin Electrophoresis
✔️ Best treatment for sickle cell crisis? – Hydration, Pain control, Oxygen
✔️ Classic sign of hemophilia? – Hemarthrosis (Joint bleeding)
✔️ Most common childhood bleeding disorder? – ITP