Thalassemia Management

M R Lokeshwar
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Thalassemia Management - Diagnosis
- CBC is frequently sufficient to postulate a diagnosis of thalassemia. Peripheral blood smears are diagnostic, with microcytic, hypochromic, poikilocytic, and polychromatic red cells. There is also moderate basophilic stippling with fragmented erythrocytes, target cells and large number of normoblasts and reticulocytes ranges from 2-4%.
- Osmotic fragility reveals reduced fragility.
- Bone marrow examination though not required for diagnosis, shows normoblastic erythroid hyperplasia.
- Hb electrophoresis is diagnostic. Fetal hemoglobin is increased in the patient and HbA2 is over 3.4% in both parents.
- Radiological findings include widening of medulla due to bone marrow hyperplasia, thinning of cortex and trabeculation in the long bones-metacarpals and metatarsals. Skull X-ray shows hair on end appearance.
- Periodic tests for organ dysfunctions is necessary which includes SGOT, SGPT, GGT, Sr.Bilirubin, Sr. Calcium, Sr. Creatinine, etc.


References
Thalassemia Management Thalassemia Management 12/27/2013
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