Document Detail

A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.
MedLine Citation:
PMID:  12542500     Owner:  NLM     Status:  MEDLINE    
We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu repeat sequences nor the presence of homologous regions prone to recombination, suggesting a non-homologous recombination event. This alpha+-thalassaemia deletion was found to give rise to an atypical haemoglobin H (HbH) disease characterized by a non-transfusion-dependent moderate microcytic hypochromic anaemia in combination with a poly adenylation signal mutation of the alpha-globin gene (alpha2 AATAAA --> AATA-- --).
Cornelis L Harteveld; Peter van Delft; Pierre W Wijermans; Mies C Kappers-Klunne; Jitske Weegenaar; Monique Losekoot; Piero C Giordano
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  British journal of haematology     Volume:  120     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2003-01-24     Completed Date:  2003-03-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  364-6     Citation Subset:  IM    
Department of Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands.
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MeSH Terms
Blotting, Southern
Gene Deletion*
Globins / genetics*
In Situ Hybridization
Middle Aged
Suriname / ethnology
alpha-Thalassemia / genetics*
Reg. No./Substance:

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