XmnI Ggamma-polymorphism in six unrelated Pakistani families with Inv/Del Ggamma(Agammadeltabeta) degrees deltabeta-thalassemia.
The XmnI Ggamma-polymorphism (C-T polymorphism at position -158 to the Ggamma-globin gene) was studied in 13 individuals from six unrelated Pakistani families with deltabeta-thalassemia. All of the subjects had the Asian-Indian Inv/Del Ggamma(Agammadeltabeta) degrees that included six heterozygotes, six homozygotes, and one compound heterozygote of deltabeta- and beta-thalassemia. All seven deltabeta-thalassemia heterozygotes (including one compound heterozygote) had the -/+ genotype, whereas all six of the homozygotes had the +/+ genotype. The results strongly suggest a tight linkage between the XmnI Ggamma-polymorphism and the Asian-Indian Inv/Del Ggamma(Agammadeltabeta) degrees . The finding could explain the unusually well-preserved capacity to produce fetal hemoglobin in deltabeta-thalassemia.
Ahmed
Suhaib
S
Department of Pathology, PNS Shifa, Karachi, Pakistan. suhaib955@hotmail.com
Anwar
Masood
M
D005190:Family; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010154:Pakistan; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin