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[Study of hemoglobinopathy in Kashi district of Xinjiang].

OBJECTIVE
To study the hemoglobinopathy in Kashi district of Xinjiang.


METHODS
The abnormal hemoglobin carriers were investigated with microelectrophoresis. The propositus of thalassemia were tested with two steps of screening technique. The structural analysis of abnormal hemoglobin was carried out with finger print analysis technique. Gene identification of thalassemia was performed with PCR/ASO technique.


RESULTS
The incidence of hemoglobinopathy and thalassemia were 0.8% and 3.07%, respectively. Both were higher than the average level in the population of Xinjiang and the whole country. Two kinds of variant of HbJ Tashikuergan [alpha 19(AB1)Ala-->Glu] and HbD Punjab[P121(GH4)Glu-->Gln] were found in the structural analysis of 8 cases of abnormal hemoglobin. Four kinds of mutation: CD8(-AA),CD8/9(+G),CDs41/42(-TTCT) and IVS-I-5(G-->C) were revealed at the gene identification of 10 propositus of beta-thalassemia. HbJ Tashikuergan was firstly reported in the world, and CD8(-AA) and CDs8/9(+G) were firstly discovered in China.


CONCLUSION
The types and distribution of abnormal hemoglobin and thalassemia in Kashi district were different from those in other areas of our country, and also unsimilar to our neighbour countries.