Document Detail

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent.
MedLine Citation:
PMID:  10066027     Owner:  NLM     Status:  MEDLINE    
The goal of thalassemia screening is the identification, prior to the conception or birth of an affected child, of couples where both partners are thalassemia carriers. When both partners are identified as carriers for alpha- or beta-thalassemia, the risk of having a fetus who is homozygous or compound heterozygous for the abnormal gene is 25%. A study was performed to identify whether routine screening for thalassemia is indicated for the Chinese population in British Columbia (BC). In a population of 783 subjects, studied either prospectively or retrospectively, 5.0% were alpha-thalassemia carriers and 1.7% were beta-thalassemia carriers. In addition, a review of all BC cases of prenatal diagnosis for thalassemia over a 6-year period indicated that 26% of couples were identified as alpha-thalassemia carriers because of a second or third trimester diagnosis of fetal hydrops, and 17% of couples referred for beta-thalassemia already had an affected child. The experience with prenatal diagnosis shows that a significant proportion of at-risk couples are not identified prior to or early in a pregnancy. The prevalence of carriers for thalassemia would warrant a program of education and routine screening for this condition in the BC Asian population.
K N Yong; D Wadsworth; S Langlois; S L Yong; R D Wilson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  55     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-05-19     Completed Date:  1999-05-19     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  20-5     Citation Subset:  IM    
Department of Obstetrics and Gynecology, British Columbia Children's and Women's Hospital, Vancouver, Canada.
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MeSH Terms
British Columbia
China / ethnology
Genetic Testing*
Heterozygote Detection*
Prenatal Diagnosis*
alpha-Thalassemia / epidemiology,  ethnology,  genetics*
beta-Thalassemia / epidemiology,  ethnology,  genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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