Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

Citation
Kn. Yong et al., Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent, CLIN GENET, 55(1), 1999, pp. 20-25
Citations number
18
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
55
Issue
1
Year of publication
1999
Pages
20 - 25
Database
ISI
SICI code
0009-9163(199901)55:1<20:TCSAPD>2.0.ZU;2-L
Abstract
The goal of thalassemia screening is the identification, prior to the conce ption or birth of an affected child, of couples where both partners an thal assemia carriers. When both partners are identified as carriers for alpha- or beta-thalassemia, the risk of having a fetus who is homozygous or compou nd heterozygous for the abnormal gene is 25%. A study was pet-formed to ide ntify whether routine screening for thalassemia is indicated for the Chines e population in British Columbia (BC). In a population of 783 subjects, stu died either prospectively or retrospectively, 5.0% were alpha-thalassemia c arriers 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 alph a-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 sig nificant 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 As ian population.