A mild form of Hb S‐β‐thalassemia syndrome is assured in Sicilian patients by β+mutant IVS‐I nt 6(T→C)

Mirabile, Elena; Testa, R.; Samperi, Piera; Consalvo, C.; Romano, Vittorio

doi:10.1111/j.1600-0609.1997.tb01412.x

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…[18] and Mirabile et al . [19] have also shown that the type of β thalassemia alleles had an influence on the phenotypic expression of the disease. On the other hand, Nadkarni et al .…”

Section: Discussionmentioning

confidence: 99%

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

Mukherjee¹,

Nadkarni²,

Gorakshakar³

et al. 2010

Indian J Hum Genet

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BACKGROUND: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.

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“…[18] and Mirabile et al . [19] have also shown that the type of β thalassemia alleles had an influence on the phenotypic expression of the disease. On the other hand, Nadkarni et al .…”

Section: Discussionmentioning

confidence: 99%