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. 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.
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Authors | Jian Li, Ru Li, Jian-Ying Zhou, Xing-Mei Xie, Can Liao, Dong-Zhi Li |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 33
Issue 9
Pg. 869-72
(Sep 2013)
ISSN: 1097-0223 [Electronic] England |
PMID | 23637094
(Publication Type: Journal Article)
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Copyright | © 2013 John Wiley & Sons, Ltd. |
Chemical References |
- Hemoglobins, Abnormal
- hemoglobin Quong Sze
- Hemoglobin Constant Spring
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Topics |
- Adult
- China
(epidemiology)
- Family Characteristics
- Female
- Gene Deletion
- Hemoglobins, Abnormal
(genetics)
- Humans
- Male
- Mass Screening
- Pilot Projects
- Pregnancy
- Pregnancy, High-Risk
(blood, genetics)
- Prenatal Diagnosis
(statistics & numerical data)
- Young Adult
- alpha-Thalassemia
(diagnosis, epidemiology, genetics, prevention & control)
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