Variable clinical severity of Hb E beta-thalassemia among Indians.

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dc.contributor.authorNadkarni, Aen_US
dc.contributor.authorGhosh, Ken_US
dc.contributor.authorGorakshakar, Aen_US
dc.contributor.authorColah, Ren_US
dc.contributor.authorMohanty, Den_US
dc.date.accessioned1999-10-25en_US
dc.date.accessioned2009-05-31T01:56:56Z
dc.date.available1999-10-25en_US
dc.date.available2009-05-31T01:56:56Z
dc.date.issued1999-10-25en_US
dc.description.abstractOBJECTIVE: The aim of this preliminary report was to look at the effect of genetic variations in the alpha, beta and gamma globin genes in 7 cases of hemoglobin E/beta-thalassemia with diverse clinical expression of the disease. METHODS: beta-thalassemia mutations were characterized by PCR and dot blot hybridization. G gamma gene polymorphism (Xmnl) was determined by PCR followed by restriction enzyme digestion and polyacrylamide gel electrophoresis. alpha genotyping was done by Southern blot hybridization. RESULTS: Six cases had a severe beta+ mutation [IVS 1 nt 5 (G-->C)] and one case had a beta zero mutation [F/S 41/42 (-CTTT)]. Hence, the beta-thalassemia mutation does not seem to contribute towards the clinical diversity. alpha-genotyping showed a single alpha-gene deletion of the rightward type in three of the five milder cases. The -158 G gamma (C-->T) substitution was present at least in heterozygous state (+/-) in all the milder cases. CONCLUSIONS: Deletional alpha thalassemia and presence of the -158 G gamma (C->T) substitution are the two factors which appear to be more important in decreasing the severity of the disease rather than the nature of the beta thalassemia mutation.en_US
dc.description.affiliationDept. of Hematogenetics, (ICMR), KEM Hospital Campus, Parel, Mumbai, India.en_US
dc.identifier.citationNadkarni A, Ghosh K, Gorakshakar A, Colah R, Mohanty D. Variable clinical severity of Hb E beta-thalassemia among Indians. Journal of the Association of Physicians of India. 1999 Oct; 47(10): 966-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/92615
dc.language.isoengen_US
dc.source.urihttps://www.japi.orgen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Expression --physiologyen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlobins --geneticsen_US
dc.subject.meshHemoglobin E --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshbeta-Thalassemia --diagnosisen_US
dc.titleVariable clinical severity of Hb E beta-thalassemia among Indians.en_US
dc.typeJournal Articleen_US
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