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0 Thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated   globin genes

Journal of clinical pathology, 2004-02, Vol.57 (2), p.164-167 [Peer Reviewed Journal]

Copyright: 2004 Copyright 2004 Journal of Clinical Pathology ;ISSN: 0021-9746 ;EISSN: 1472-4146 ;DOI: 10.1136/jcp.2003.12856 ;CODEN: JCPAAK

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  • Title:
    0 Thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated   globin genes
  • Author: Jia, S-Q
  • Subjects: Epidemiology ; Genes ; Haplotypes ; Hematology ; Mutation ; Polymerase chain reaction ; Population
  • Is Part Of: Journal of clinical pathology, 2004-02, Vol.57 (2), p.164-167
  • Description: Aims: To characterise a novel 11.1 kb deletion that eliminated both of the duplicated α globin genes, giving rise to a typical α0 thalassaemia phenotype in four carriers from a Chinese family. Methods: Haematological investigations were carried out on all family members. The seven common forms of α thalassaemia were screened for by the polymerase chain reaction (PCR) and Southern blotting was used to analyse the α globin gene cluster. DNA sequence analysis of the entire α1 and α1 globin gene region was carried out and reverse transcription (RT)-PCR was used to investigate the transcription levels of the α and β globin genes. Results: The breakpoints were found to lie between coordinates 31695-31724 and 42846-42867 of the α globin gene cluster (NG_000006), with a total of about 11 135 nucleotides deleted. These sequences are involved in (CA)n repeats, suggesting a homologous recombination event. RT-PCR analysis gave a transcription level of the α globin gene in heterozygotes comparable with that of SEA deletion heterozygotes, confirming no output of α globin from the linked pair of α globin genes. The heterozygosity for this novel deletion was confirmed by PCR diagnosis in all four carriers from this family. Conclusions: This rare mutation constitutes an additional heterogeneous defect causing α thalassaemia in the Chinese population.
  • Publisher: London: BMJ Publishing Group LTD
  • Language: English
  • Identifier: ISSN: 0021-9746
    EISSN: 1472-4146
    DOI: 10.1136/jcp.2003.12856
    CODEN: JCPAAK
  • Source: GFMER Free Medical Journals
    PubMed Central
    Alma/SFX Local Collection
    ProQuest Central
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