Questions and Answers
What is the typical range of hemoglobin levels in untransfused patients with β Thalassemia Major?
3-9 G/dl
Which of the following is a characteristic of RBC series in β Thalassemia Major?
Anisocytosis, microcytosis, and poikilocytosis
What is the primary cause of death after the first decade in patients with β Thalassemia Major?
Cardiac Complications
What is the underlying mechanism of increased body iron in patients with β Thalassemia Major?
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Which of the following organs is affected by iron deposition in patients with β Thalassemia Major?
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What is the typical effect of transfusions and iron chelation on survival in patients with β Thalassemia Major?
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What is the characteristic facies seen in patients with β Thalassemia Major?
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What is the typical X-ray change seen in the skull of patients with β Thalassemia Major?
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What is the characteristic feature of erythropoiesis in Beta Thalassemia major?
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Which of the following is NOT a characteristic of sideroblasts in Beta Thalassemia major?
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What is the characteristic feature of red cell morphology in thalassaemia?
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What is the diagnostic test for Beta Thalassemia major?
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What is the typical finding in serum bilirubin levels in thalassaemia?
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What is the characteristic feature of granulopoiesis and megakaryopoiesis in Beta Thalassemia major?
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What is the characteristic feature of osmotic fragility test in thalassaemia?
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What is the result of alkaline gel electrophoresis in Beta Thalassemia major?
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What is the effect of iron overload in Beta Thalassemia major?
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What is the typical finding in Hb electrophoresis in thalassaemia?
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What is the characteristic feature of bone marrow changes in thalassaemia?
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Which of the following is a feature of laboratory diagnosis of Beta Thalassemia major?
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What is the characteristic feature of normoblasts in Beta Thalassemia major?
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What is the typical finding in iron studies in thalassaemia?
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What is the molecular defect in β thalassaemia?
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What is the size of the beta-globin gene?
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Study Notes
Changes in Skeletal System
- Mongoloid facies due to expansion of marrow in malar bones
- X-ray changes in skull, long bones, hands, and feet
- Cortical thinning, pathological fractures, and bone pain
- Impairment of growth, small stature
- Menarche delayed, secondary sex characters undeveloped
Extramedullary Hemopoiesis
- May occur, forming masses of hemopoietic tissue
Iron Deposition
- Insidious deposition of iron in tissues during late childhood and early adolescence, leading to organ dysfunction (Secondary Hemochromatosis)
- Increased body iron due to frequent blood transfusions and increased intestinal absorption
- Iron deposition in:
- Pancreas: pancreatic hemosiderosis, Bronze Diabetes
- Liver: cirrhosis
- Heart: cardiac manifestations, arrhythmia, heart block, chronic heart failure (main cause of death after the first decade)
- Pericardium: pericarditis
Prognosis
- Before age 5: death due to severe anemia or infection
- Adults: chronic heart failure, cirrhosis, diabetes
- With transfusions and iron chelation, survival into the third decade is possible, with a life expectancy of 15-25 years
Blood Picture
- Resembles severe IDA (Hypochromic Microcytic Anemia)
- RBC series:
- Hb: severe anemia (3-9 G/dl) in untransfused patients
- Size: marked anisocytosis, microcytosis predominant, with some macrocytes and spherocytes occasionally
- Shape: marked poikilocytosis, target cells, fragmented cells
- Staining: hypochromia
- Immature forms: normoblasts - large number
- Inclusion bodies: granular cytoplasmic inclusions representing aggregates of α chain
- WBC series:
- Total count: increased
- Form: shift to left of neutrophils - myelocytes present
- Platelet series:
- Count: normal, decreased in patients with very large spleen
Other Tests
- Serum bilirubin: slightly increased
- Serum haptoglobin, hemopexin: depleted
- OF test: increased resistance to hemolysis
- Serum Fe: increased
- Serum ferritin: increased
- Transferrin: completely saturated
- Serum uric acid: increased (clinically - gout)
Bone Marrow
- Erythropoiesis:
- Intense hyperplastic erythropoiesis
- Increased proportion of basophilic and polychromatic normoblasts, which are smaller than normal (micronormoblasts) due to decreased cytoplasm
- Siderotic granules are commonly scattered throughout the cytoplasm of normoblasts
- Ring sideroblast: occasionally seen
- Granulopoiesis and Megakaryopoiesis: normal
HbF Estimation
- Hb electrophoresis:
- HbA (α2 β 2): can be (-) in β thal major
- HbA2 (α2 δ2): variable - normal or increased
- HbF (α2 γ2): 10-98% of total (predominant)
- Alkali denaturation test (Singer's test): Hb F is resistant to denaturation by alkali
Thalassemia Intermedia
- Clinical features and severity are in between Thalassemia major and minor
- Compatible with survival into adult life with only occasional transfusion
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