Abstract:
:Over 80% of the α-thalassemia cases in southern China are caused by large deletions involving the α-globin gene cluster on chromosome 16p13.3. Here, we characterized a novel 27.6-kb deletion on the α-globin gene cluster in a Chinese family. Its breakpoints were detected to lie between coordinates 9079 and 36718 of the α-globin gene cluster (NG_000006.1), with a total of 27,640 nucleotides deleted. It was designated as -α (27.6) deletion. The proband is a compound heterozygote of --(SEA) and -α (27.6) and he displayed very mild hemoglobin H disease phenotype with Hb 7.9-9.3 g/dl. Phenotypic analysis on heterozygote of this deletion revealed it as α(+) mutation. It leads to a very mild phenotype as adult heterozygotes have normal hematological parameters with the values at the lower border of the normal range. RT-PCR analysis showed that the α-globin mRNA level of the heterozygotes was decreased when compared with that of normal people.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Wei XF,Shang X,He DQ,Huang JW,Zhang XH,Xu XMdoi
10.1007/s00277-010-1030-1subject
Has Abstractpub_date
2011-01-01 00:00:00pages
17-22issue
1eissn
0939-5555issn
1432-0584journal_volume
90pub_type
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