The β-Thalassemia Frameshift at Codon 8 (-AA) Observed in four Chinese of the Uygur Nationality

Abstract

During a survey for β-thalassemia in Kashi City, Xinjiang Province, P.R. China, four unrelated Uygur students were identified as heterozygotes for the β-thalassemia frameshift at codon 8 (-AA). Detection was with the polymerase chain reaction combined with allele-specific oligonucleotide hybridization. This β-thalassemia allele has not been observed in the Chinese population before and might be rather specific for the Uygur nationality.