Document Detail


A patient of German descent with (delta beta)0-thalassemia carrying the Sicilian type deletion of the delta and beta globin genes.
MedLine Citation:
PMID:  3384697     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A deletion-type (delta beta)0-thalassemia with elevated production of fetal hemoglobin (Hb F) is described. The patient, homozygous for the disease, presented a clinical picture of beta-thalassemia intermedia. DNA analysis demonstrated that the deletion removed about 13 kb from the beta-globin cluster, including part of delta and the complete beta gene. The deletion appears to be identical to the previously described Sicilian deletion. Its presence in the homozygous state in a patient from Central Europe suggests that the deleted chromosome may be rather prevalent in that area.
Authors:
P Hopmeier; A Shenhav; G Glaser; E A Rachmilewitz; A Oppenheim
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Hemoglobin     Volume:  12     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1988  
Date Detail:
Created Date:  1988-08-02     Completed Date:  1988-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  39-51     Citation Subset:  IM    
Affiliation:
Central Laboratory, Municipal Hospital Lainz, Vienna, Austria.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Deletion*
Chromosome Mapping
Germany / ethnology
Globins / genetics*
Humans
Israel
Male
Pedigree
Thalassemia / genetics*
Chemical
Reg. No./Substance:
9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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