Thalassemia major patients present within 3 months to 2 years of birth, with progressive pallor, poor appetite and lethargy . Physical examination shows moderate to severe anemia along with hepatosplenomegaly.
Diagnosis is confirmed by Hb electrophoresis/HPLC which shows increased HbF (70-99%). Mutation analysis is recommended in all newly diagnosed cases as it is helpful in predicting the severity of the disease and is also helpful for prenatal diagnosis of future children.
Management of Thalassemia major
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