Publication: Characterization of a novel deletion causing (δβ) <sup>0</sup>-thalassemia in a Thai family
1
Issued Date
2007-02-01
Resource Type
ISSN
10968652
03618609
03618609
Other identifier(s)
2-s2.0-33846494974
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
American Journal of Hematology. Vol.82, No.2 (2007), 155-161
Suggested Citation
Saovaros Svasti, Surachate Paksua, Issarang Nuchprayoon, Pranee Winichagoon, Suthat Fucharoen Characterization of a novel deletion causing (δβ) <sup>0</sup>-thalassemia in a Thai family. American Journal of Hematology. Vol.82, No.2 (2007), 155-161. doi:10.1002/ajh.20781 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/25007
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Title
Characterization of a novel deletion causing (δβ) <sup>0</sup>-thalassemia in a Thai family
Abstract
A novel deletion of the human β-globin gene cluster associated with the increased level of fetal hemoglobin (Hb F) in adult life has been demonstrated in a Thai family. A Thai girl who was mistakenly diagnosed as β-thalassemia/HbE is found to be the compound heterozygote of this mutation and Hb E. The heterozygous father had mild hypochromic and microcytic red blood cells and a high level of Hb F (23.2%). Polymorphic restriction sites in the β-globin gene cluster identified the homozygous alleles, which localized the deletion region between the ψβ-globin and the 3′ β-globin genes. DNA polymerase that can amplify a long DNA template was employed to examine DNA fragment encompassing this deletion. A 11.3 kilobases (kb) of DNA deletion, beginning ∼3.1 kb 5′ to the δ-globin gene and end in the intron 2 of the β-globin gene was detected. DNA analysis revealed that this is a case of (δβ)0-thalassemia with a novel mutation, which can lead to a mild form of β-thalassemia upon interaction with Hb E. © 2006 Wiley-Liss, Inc.