XXXX in Andhra Pradesh, India: a population study.

@entity35386 @entity2395 @entity3458 @entity8453 @entity74 @entity14451 @entity14310 @entity8674 @entity2241
BACKGROUND: The @entity8453 are a very heterogeneous group of @entity14451 . They include @entity2395 , hemoglobin variants and @entity2241 . @entity8674 is the most common @entity74 in India. Molecular characterization of this disease has revealed an extremely heterogeneous picture. METHODS: 1592 blood samples from suspected cases were studied using high performance liquid chromatography, amplification refractory mutation system polymerase chain reaction and reverse dot blot techniques. RESULTS: Out of 1592 cases, we found 119 cases of @entity8674 major, and 347 cases of @entity8674 trait. In addition to this, cases with structural variants like @entity3458 , sickle cell trait, @entity2395 (Hb DD), @entity2395 (Hb EE), double heterozygotes and the @entity2241 were also found. Molecular analysis revealed the presence of different @entity8674 mutations in the population under study. CONCLUSIONS: Molecular analysis revealed that @entity35386 and 619 bp deletion are the most common mutations in the population under study. The knowledge about the frequency of predominant mutations in the present population helps in offering prenatal diagnosis to the families having @entity14310 at risk.
