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PubMed · 15876597

Hemoglobin E-beta thalassemia: factors affecting phenotype.

I Panigrahi·S Agarwal·T Gupta·P Singhal·M Pradhan
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Abstract

The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-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 (>3 yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed beta-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.

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ChildChild, PreschoolFemaleFetal HemoglobinGlobinsHemoglobin EHumansMalebeta-ThalassemiaJournal ArticleResearch Support, Non-U.S. Gov't

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I Panigrahi, S Agarwal, T Gupta, P Singhal, M Pradhan. 2005. Hemoglobin E-beta thalassemia: factors affecting phenotype.. https://pubmed.ncbi.nlm.nih.gov/15876597/

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