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Hemoglobin E-beta Thalassemia: Factors Affecting Phenotype

Source: www.indianpediatrics.net
Topic: Thalassemia
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Sort Desciption: The phenotype of E-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-thalassemia and correlate with HbE, HbF, E/F ratios, mutation and Xmn I polymorphism. ...

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The phenotype of E-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-thalassemia and correlate with HbE, HbF, E/F ratios, mutation and Xmn I polymorphism. Thirty cases of E-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and -mutations were studied by PCR-RFLP and ARMS respectively. Commonest features were pallor (100%), splenomegaly (74%), and hepatomegaly (65%), 43% (10/23) were on regular transfusions at diagnosis. One case presented with paraplegia. Patients heterozygous for Xmn I polymorphism () had later onset (>3yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed -mutation IVS 1-5 (G C). Negative correlation was found between age of onset and HbE. Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis. Keywords: HbE, HPLC, Mutations, Xmn I polymorphism. H EMOGLOBIN E-beta thalassemia is common hemolytic anemia in Southeast Asia(1). HbE ( -26 glutaminelysine) is commonest hemoglobin variant in India with prevalence of 7-50% in Northeastern region and 1-2% in West Bengal(2). HbE ...

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