Podcast
Questions and Answers
What is the typical range of hemoglobin levels in untransfused patients with β Thalassemia Major?
What is the typical range of hemoglobin levels in untransfused patients with β Thalassemia Major?
Which of the following is a characteristic of RBC series in β Thalassemia Major?
Which of the following is a characteristic of RBC series in β Thalassemia Major?
What is the primary cause of death after the first decade in patients with β Thalassemia Major?
What is the primary cause of death after the first decade in patients with β Thalassemia Major?
What is the underlying mechanism of increased body iron in patients with β Thalassemia Major?
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?
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?
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?
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?
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?
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?
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?
What is the characteristic feature of red cell morphology in thalassaemia?
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What is the diagnostic test for Beta Thalassemia major?
What is the diagnostic test for Beta Thalassemia major?
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What is the typical finding in serum bilirubin levels in thalassaemia?
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?
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?
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?
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?
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?
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?
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?
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?
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?
What is the typical finding in iron studies in thalassaemia?
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What is the molecular defect in β thalassaemia?
What is the molecular defect in β thalassaemia?
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What is the size of the beta-globin gene?
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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Description
This quiz covers the various symptoms of Thalassemia, including changes in the skeletal system, facial features, and growth impairment. It also explores the effects on secondary sex characters and hemopoiesis.
