Thalassemia in Children: Model Clinical Case and Viva Q&A
Clinical Case of Thalassemia in Children
Clinical Case: Beta-Thalassemia Major in a 2-year-old Child
Aisha, a 2-year-old girl of Middle Eastern descent, was brought to the pediatric hematology clinic by her parents with complaints of progressive pallor, fatigue, poor appetite, and recurrent fevers over the past 6 months. Her parents reported that she seemed to tire easily during play and had experienced three episodes of respiratory infections in the last 4 months, each requiring antibiotic treatment.
Family History:
- Parents are first cousins
- Older sibling (5 years old) is healthy
- Maternal aunt had a child who died in infancy due to severe anemia; cause unknown
Physical Examination:
- Weight: 9.8 kg (<3rd percentile); Height: 80 cm (<3rd percentile)
- Marked pallor of skin and mucous membranes
- Mild icterus noted in the sclera
- Tachycardia (heart rate 130 bpm) with a 2/6 systolic flow murmur
- Respiratory rate: 28/min
- Abdominal examination: Liver palpable 4 cm below right costal margin, spleen palpable 3 cm below left costal margin
- Frontal bossing and prominent maxillary bones noted
Laboratory Findings:
- Complete Blood Count:
- Hemoglobin: 6.2 g/dL
- Hematocrit: 19%
- RBC count: 3.1 x 10^12/L
- MCV: 61 fL
- MCH: 20 pg
- MCHC: 32 g/dL
- RDW: 22%
- Reticulocyte count: 3.5%
- WBC count: 10.2 x 10^9/L
- Platelet count: 280 x 10^9/L
- Peripheral blood smear: Microcytic hypochromic anemia with marked anisopoikilocytosis, target cells, basophilic stippling, and nucleated RBCs (15 nRBCs/100 WBCs)
- Serum ferritin: 385 ng/mL (elevated)
- Hemoglobin electrophoresis:
- HbF: 92%
- HbA2: 4.8%
- HbA: 3.2%
- Liver function tests:
- Total bilirubin: 2.8 mg/dL
- Direct bilirubin: 0.5 mg/dL
- ALT: 45 U/L
- AST: 52 U/L
Imaging Studies:
- Chest X-ray: Cardiomegaly with increased pulmonary vascularity
- Abdominal ultrasound: Hepatomegaly (liver span 11 cm) and splenomegaly (spleen length 9 cm)
- Skull X-ray: "Hair-on-end" appearance
Diagnosis:
Based on the clinical presentation, family history, and laboratory findings, Aisha was diagnosed with beta-thalassemia major.
Management Plan:
- Initiate regular blood transfusion program:
- Goal: Maintain pre-transfusion hemoglobin above 9-10.5 g/dL
- Frequency: Every 3-4 weeks initially
- Use leukocyte-depleted packed red blood cells
- Iron chelation therapy:
- To be initiated after 10-20 transfusions or when serum ferritin exceeds 1000 ng/mL
- Options to be discussed: Deferasirox (oral) or Deferoxamine (subcutaneous)
- Nutritional support:
- High-calorie, high-protein diet
- Folate supplementation: 1 mg daily
- Calcium and Vitamin D supplementation
- Infection prevention:
- Ensure up-to-date immunizations, including pneumococcal and influenza vaccines
- Prompt treatment of infections
- Regular monitoring:
- Monthly complete blood counts
- Quarterly serum ferritin levels
- Annual comprehensive endocrine evaluation
- Cardiac T2* MRI at age 7 years or earlier if clinically indicated
- Genetic counseling for the family
- Psychosocial support for the patient and family
- Evaluation of siblings for thalassemia trait
- Discussion of long-term management options, including potential for hematopoietic stem cell transplantation
Aisha was admitted for initial blood transfusion and comprehensive education of the family about beta-thalassemia major. A multidisciplinary team including a pediatric hematologist, nurse specialist, nutritionist, and social worker was involved in her care. The family was counseled about the chronic nature of the condition, the importance of adherence to the treatment plan, and the potential complications and their prevention.
Clinical Presentations of Thalassemia in Children
Varieties of Clinical Presentations of Thalassemia in Children
-
Beta-Thalassemia Major (Cooley's Anemia)
- Onset: Typically between 6-24 months of age
- Severe microcytic hypochromic anemia (Hb <7 g/dL)
- Failure to thrive with weight and height below the 3rd percentile
- Hepatosplenomegaly
- Skeletal changes: Frontal bossing, maxillary prominence, "chipmunk facies"
- Extramedullary hematopoiesis leading to characteristic radiographic findings (e.g., "hair-on-end" appearance of the skull)
- Jaundice due to hemolysis
- Increased susceptibility to infections
- Thalassemic facies: Prominent cheek bones, depression of the bridge of the nose
- Without treatment: Severe anemia, heart failure, growth retardation, endocrine abnormalities
-
Beta-Thalassemia Intermedia
- Onset: Later childhood or even adulthood
- Moderate anemia (Hb usually 7-10 g/dL)
- Variable clinical severity
- Mild to moderate hepatosplenomegaly
- Milder growth retardation compared to thalassemia major
- Skeletal changes may be present but less severe
- Increased risk of thrombotic events
- Extramedullary hematopoiesis may lead to characteristic masses (especially paravertebral)
- Iron overload can occur even without regular transfusions due to increased intestinal iron absorption
- Leg ulcers in some cases
-
Alpha-Thalassemia Major (Hb Bart's Hydrops Fetalis)
- Severe fetal anemia detected in utero
- Hydrops fetalis: Generalized edema, ascites, pleural and pericardial effusions
- Severe hepatosplenomegaly
- Cardiac enlargement and failure
- Usually results in stillbirth or death shortly after birth
- If diagnosed prenatally: Severe intrauterine growth restriction, decreased fetal movement
- Maternal complications: Preeclampsia, polyhydramnios
-
Hemoglobin H Disease
- Variable onset: Can present in infancy or later childhood
- Moderate microcytic hypochromic anemia (Hb usually 8-10 g/dL)
- Mild to moderate hepatosplenomegaly
- Mild jaundice
- Growth may be normal or mildly affected
- Possible hemolytic crises triggered by infections, oxidant drugs, or pregnancy
- Gallstones may develop due to chronic hemolysis
- Rarely, hydrops fetalis in Hb H-Constant Spring
- Increased risk of iron overload in adulthood, even without regular transfusions
-
Beta-Thalassemia Minor (Thalassemia Trait)
- Usually asymptomatic
- Mild microcytic hypochromic anemia (Hb usually >10 g/dL)
- Normal growth and development
- May be mistaken for iron deficiency anemia
- Occasionally, mild splenomegaly
- Rarely, intermittent jaundice during stress or infection
- Important for genetic counseling
-
Alpha-Thalassemia Silent Carrier
- No clinical symptoms
- Normal hematological indices
- Only detectable by genetic testing
- Important for genetic counseling
-
Alpha-Thalassemia Trait
- Usually asymptomatic
- Mild microcytic hypochromic anemia (Hb usually >10 g/dL)
- Normal development and growth
- May be mistaken for iron deficiency anemia
- No splenomegaly
- Important for genetic counseling
-
HbE/Beta-Thalassemia
- Variable clinical severity (mild to severe)
- Anemia ranging from mild (Hb >9 g/dL) to severe (Hb <7 g/dL)
- Hepatosplenomegaly, more pronounced in severe cases
- Jaundice may be present
- Growth retardation and skeletal changes in severe cases
- Possible extramedullary hematopoiesis
- Iron overload can occur, even in non-transfusion dependent cases
- Increased risk of thrombotic events in adults
-
Delta-Beta Thalassemia
- Often clinically similar to beta-thalassemia intermedia
- Moderate anemia (Hb usually 8-10 g/dL)
- Microcytosis and hypochromia
- Mild to moderate hepatosplenomegaly
- Elevated HbF levels (10-90%)
- Milder clinical course compared to beta-thalassemia major
- Possible skeletal changes and growth retardation in more severe cases
-
Hereditary Persistence of Fetal Hemoglobin (HPFH)
- Usually asymptomatic
- Normal hemoglobin levels
- Elevated HbF levels (10-30% in heterozygotes, up to 100% in homozygotes)
- Normal growth and development
- No hepatosplenomegaly
- Important in genetic counseling, especially in populations with high prevalence of beta-thalassemia
Knowledge Check: Question and Answers for Medical Students & Professionals
This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.
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