Prenatal control of nondeletional α -thalassemia: first experience in mainland China

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Abstract
Objective To demonstrate the performance of nondeletional α‐thalassemia prevention at a mainland Chinese hospital. Methods A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α‐thalassemia trait, and for couples in whom one partner was tested positive for α0‐thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at‐risk for nondeletional Hb H disease. Results Of the 30 152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at‐risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Conclusion Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

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