Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.
Sixty-four thalassemia and E-beta thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of beta-globin gene, presence of alpha-deletion, and presence of an XmnI site at the -158 position of the Gy gene. Presence of alpha-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single alpha-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.
Bandyopadhyay
S
S
Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, India.
Roychowdhury
K
K
Chandra
S
S
Das
M
M
Dasgupta
U B
UB
D015252:Deoxyribonucleases, Type II Site-Specific; D018450:Disease Progression; D005819:Genetic Markers; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D009154:Mutation; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D017085:alpha-Thalassemia / Q000235:genetics* / Q000503:physiopathology; D017086:beta-Thalassemia / Q000235:genetics* / Q000503:physiopathology
D005819:Genetic Markers; D005914:Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific