Hemoglobin E-beta thalassemia: factors affecting phenotype.

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dc.contributor.authorPanigrahi, Ien_US
dc.contributor.authorAgarwal, Sen_US
dc.contributor.authorGupta, Ten_US
dc.contributor.authorSinghal, Pen_US
dc.contributor.authorPradhan, Men_US
dc.date.accessioned2005-04-07en_US
dc.date.accessioned2009-05-27T05:50:52Z
dc.date.available2005-04-07en_US
dc.date.available2009-05-27T05:50:52Z
dc.date.issued2005-04-07en_US
dc.description.abstractThe 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.en_US
dc.description.affiliationDepartment of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, U.P., India.en_US
dc.identifier.citationPanigrahi I, Agarwal S, Gupta T, Singhal P, Pradhan M. Hemoglobin E-beta thalassemia: factors affecting phenotype. Indian Pediatrics. 2005 Apr; 42(4): 357-62en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/13497
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Hemoglobin --analysisen_US
dc.subject.meshGlobins --geneticsen_US
dc.subject.meshHemoglobin E --analysisen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshbeta-Thalassemia --geneticsen_US
dc.titleHemoglobin E-beta thalassemia: factors affecting phenotype.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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