The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence... INTRODUCTIONThe thalassemias (thals) are a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains. According to the type of globin involved, thalassemia can be divided into α‐, β‐, δβ‐thal and hereditay persistence of fetal haemoglobin (HPFH). Two types of the determinants for δβ‐thal or HPFH, namely, the deletional and nondeletional types, have been classified on the basis of extensive molecular studies. (δβ)0‐thal and HPFH are caused by large deletions in the β‐globin cluster involving δ‐ and β‐globin genes, with or without Aγ‐globin genes. These mutations are characterized by high fetal haemoglobin (Hb F) levels in adult. Heterozygotes for δβ‐thal have hypochromic microcytic red cells with the levels of Hb F ranging from 5% to 20%, and, in contrast, HPFH heterozygotes have normal blood indices with higher Hb F (15%‐30%). Homozygotes for (δβ)0‐thal and compound heterozyotes for (δβ)0‐thal with β‐thal usually lead to a clinical phenotype of thal intermedia or major. Though, HPFH homozygotes are clinically asymptomatic, compound heterozyotes for HPFH with β‐thal express the phenotype thal intermedia. Furthermore, there are different types of (δβ)0‐thal or HPFH deletions have been reported in different ethnic groups and different regions. Therefore, well‐known http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Laboratory Analysis Wiley

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 Wiley Periodicals, Inc.
ISSN
0887-8013
eISSN
1098-2825
D.O.I.
10.1002/jcla.22304
Publisher site
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Abstract

INTRODUCTIONThe thalassemias (thals) are a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains. According to the type of globin involved, thalassemia can be divided into α‐, β‐, δβ‐thal and hereditay persistence of fetal haemoglobin (HPFH). Two types of the determinants for δβ‐thal or HPFH, namely, the deletional and nondeletional types, have been classified on the basis of extensive molecular studies. (δβ)0‐thal and HPFH are caused by large deletions in the β‐globin cluster involving δ‐ and β‐globin genes, with or without Aγ‐globin genes. These mutations are characterized by high fetal haemoglobin (Hb F) levels in adult. Heterozygotes for δβ‐thal have hypochromic microcytic red cells with the levels of Hb F ranging from 5% to 20%, and, in contrast, HPFH heterozygotes have normal blood indices with higher Hb F (15%‐30%). Homozygotes for (δβ)0‐thal and compound heterozyotes for (δβ)0‐thal with β‐thal usually lead to a clinical phenotype of thal intermedia or major. Though, HPFH homozygotes are clinically asymptomatic, compound heterozyotes for HPFH with β‐thal express the phenotype thal intermedia. Furthermore, there are different types of (δβ)0‐thal or HPFH deletions have been reported in different ethnic groups and different regions. Therefore, well‐known

Journal

Journal of Clinical Laboratory AnalysisWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

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