The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China
This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of −α4.2 and...
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Published in | Blood cells, molecules, & diseases Vol. 53; no. 1-2; pp. 16 - 20 |
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Main Authors | , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.06.2014
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Subjects | |
Online Access | Get full text |
ISSN | 1079-9796 1096-0961 1096-0961 |
DOI | 10.1016/j.bcmd.2014.01.003 |
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Summary: | This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of −α4.2 and −α3.7, but fewer −−SEA mutation; 3.83% have β-thal mutations all identified to be 41/42 (−TCTT); whereas 7.99% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1079-9796 1096-0961 1096-0961 |
DOI: | 10.1016/j.bcmd.2014.01.003 |