Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India.

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dc.contributor.authorMukherjee, Malay B
dc.contributor.authorNadkarni, Anita H
dc.contributor.authorGorakshakar, Ajit C
dc.contributor.authorGhosh, Kanjaksha
dc.contributor.authorMohanty, Dipika
dc.contributor.authorColah, Roshan B
dc.date.accessioned2012-06-11T04:39:39Z
dc.date.available2012-06-11T04:39:39Z
dc.date.issued2010-09
dc.description.abstractBACKGROUND: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity, which results from compound heterozygosity for sickle cell trait and β thalassemia trait. The present study was undertaken to determine the genetic factors responsible for the clinical variability of HbS-β thalassemia patients from western India. MATERIALS AND METHODS: Twenty-one HbS-β thalassemia cases with variable clinical manifestations were investigated. The α and β globin gene clusters were studied by molecular analysis. RESULTS: Thirteen patients showed milder clinical presentation as against eight patients who had severe clinical manifestations. Four β thalassemia mutations were identified: IVS 1-5 (G→C), codon 15 (G→A), codon 30 (G→C) and codon 8/9 (+G). α thalassemia and XmnI polymorphism in homozygous condition (+/+) were found to be common among the milder cases. The βS chromosomes were linked to the typical Arab-Indian haplotype (#31). Framework (FW) linkage studies showed that four β thalassemia mutations were associated with different β globin gene frameworks. Linkage of codon 15 (G→A) mutation to FW2 is being observed for the first time. CONCLUSION: The phenotypic expression of HbS-β thalassemia is not uniformly mild and α thalassemia and XmnI polymorphism in homozygous condition (+/+) are additional genetic factors modulating the severity of the disease in the Indian subcontinent.en_US
dc.identifier.citationMukherjee Malay B, Nadkarni Anita H, Gorakshakar Ajit C, Ghosh Kanjaksha, Mohanty Dipika, Colah Roshan B. Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India. Indian Journal of Human Genetics. 2010 Sept; 16(3): 154-158.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138916
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3009427/en_US
dc.subjectHbS- β thalassemiaen_US
dc.subjectclinicalen_US
dc.subjectmutationsen_US
dc.subjectframeworken_US
dc.subjectIndiaen_US
dc.subject.meshAdolescent
dc.subject.meshAnemia, Sickle Cell --blood
dc.subject.meshAnemia, Sickle Cell --diagnosis
dc.subject.meshAnemia, Sickle Cell --epidemiology
dc.subject.meshAnemia, Sickle Cell --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshIndia --epidemiology
dc.subject.meshMale
dc.subject.meshMolecular Sequence Data
dc.subject.meshMutation --genetics
dc.subject.meshPolymorphism, Genetic
dc.subject.meshbeta-Thalassemia --blood
dc.subject.meshbeta-Thalassemia --diagnosis
dc.subject.meshbeta-Thalassemia --epidemiology
dc.subject.meshbeta-Thalassemia --genetics
dc.subject.otherYoung Adult
dc.titleClinical, hematologic and molecular variability of sickle cell-β thalassemia in western India.en_US
dc.typeArticleen_US
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