Variable severity of β-thalassemia patients of Eastern India: Effect of α-thalassemia and XmnI polymorphism

S. Bandyopadhyay; K. Roychowdhury; S. Chandra; M. Das; U. B. Dasgupta

doi:10.1007/s10238-001-8028-x

Variable severity of β-thalassemia patients of Eastern India: Effect of α-thalassemia and XmnI polymorphism

S. Bandyopadhyay, K. Roychowdhury, S. Chandra, M. Das, U. B. Dasgupta

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18 Scopus citations

Abstract

Sixty-four thalassemia and E-β thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of β-globin gene, presence of α-deletion, and presence of an XmnI site at the -158 position of the Gγ gene. Presence of α-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single α-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.

Original language	English (US)
Pages (from-to)	155-159
Number of pages	5
Journal	Clinical and Experimental Medicine
Volume	1
Issue number	3
DOIs	https://doi.org/10.1007/s10238-001-8028-x
State	Published - 2001
Externally published	Yes

Keywords

Eastern India
Severity
XmnI polymorphism
α-Thalassemia
β-Thalassemia

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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10.1007/s10238-001-8028-x

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abstract = "Sixty-four thalassemia and E-β thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of β-globin gene, presence of α-deletion, and presence of an XmnI site at the -158 position of the Gγ gene. Presence of α-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single α-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.",

keywords = "Eastern India, Severity, XmnI polymorphism, α-Thalassemia, β-Thalassemia",

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T1 - Variable severity of β-thalassemia patients of Eastern India

T2 - Effect of α-thalassemia and XmnI polymorphism

AU - Bandyopadhyay, S.

AU - Roychowdhury, K.

AU - Chandra, S.

AU - Das, M.

AU - Dasgupta, U. B.

PY - 2001

Y1 - 2001

N2 - Sixty-four thalassemia and E-β thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of β-globin gene, presence of α-deletion, and presence of an XmnI site at the -158 position of the Gγ gene. Presence of α-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single α-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.

AB - Sixty-four thalassemia and E-β thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of β-globin gene, presence of α-deletion, and presence of an XmnI site at the -158 position of the Gγ gene. Presence of α-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single α-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.

KW - Eastern India

KW - Severity

KW - XmnI polymorphism

KW - α-Thalassemia

KW - β-Thalassemia

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Variable severity of β-thalassemia patients of Eastern India: Effect of α-thalassemia and XmnI polymorphism

Abstract

Keywords

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