title: Prenatal control of nondeletional α-thalassemia: first experience in mainland China.
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 α(0) -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.
  
  
  CONCLUSIONS
  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.
authors: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
authors: Jian
authors: J
authors: Li
authors: Ru
authors: R
authors: Li
authors: Jian-Ying
authors: JY
authors: Zhou
authors: Xing-Mei
authors: XM
authors: Xie
authors: Can
authors: C
authors: Liao
authors: Dong-Zhi
authors: DZ
authors: Li
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology; D005191:Family Characteristics; D005260:Female; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D008403:Mass Screening; D010865:Pilot Projects; D011247:Pregnancy; D018566:Pregnancy, High-Risk / Q000097:blood / Q000235:genetics; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D055815:Young Adult; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*
chemical_list: D006455:Hemoglobins, Abnormal; C045396:hemoglobin Quong Sze; C035541:Hemoglobin Constant Spring