Hemoglobin Showa-Yakushiji: A Common β Thalassemia Mutation Among the Agri Community from Western India

摘要

β thalassemia is one of the commonest inherited hemoglobin disorders. The prevalence of β thalassemia varies between 3% and 17% in various caste groups found in India. Hemoglobin Hb Showa Yakushiji results from a single nucleotide change at codon 110(CTG→CCG) in β globin gene. From earlier investigations, it was observed that Hb Showa Yakushiji was present in four Agri families who were referred for prenatal diagnosis. There are no reports on the prevalence of β thalassemia mutations from the Agri community. To find out the prevalence of β Thalassemia and Hb Showa Yakushiji among the Agri community. Result and Conclusion: Testing was conducted in the Agri dominated area around Navi Mumbai. Seven hundred ninety-five blood samples from unrelated Agri individuals were collected. Carrier detection for β thalassemia was done by using standard he-matological procedures followed by characterization of mutations. The prevalence of β thalassemia among Agris was found to be 3.64%. Prevalence of Hb Showa Yakushiji among β thalassemia carriers was 24.13%. Among Agris we reported only four β thalassemia mutations. This study has helped us in establishing an algorithm for identifying β thalassemia mutations among Agris that is cost effective and will be useful for offering prenatal diagnosis.