Document Detail


Hb S(C)-beta+-thalassaemia: different mutations are associated with different levels of normal Hb A.
MedLine Citation:
PMID:  2460127     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Analysis of amplified DNA through hybridization with 32P-labelled synthetic oligonucleotide probes has provided data about the molecular abnormality for beta-thalassaemic globin genes present in 32 Black and eight Mediterranean patients with Hb S(C)-beta+-thalassaemia. The patients were categorized according to these beta-thalassaemia mutations, and average haematological and haemoglobin composition data were compared for each of four different groups. Twenty-eight Black patients had the -29 A----G substitution and four had the -88 C----T substitution; all had mild disease with comparable haematology and an average Hb A level of 20%. Six Mediterranean patients had the IVS-1, 110 G----A mutation; their haematological data were nearly the same as that for the Black patients except for a lower Hb A value of 11%. Two Turkish patients with the IVS-2, 745 C----G mutation were more severely affected with mild sickling disease and low Hb A levels of 5%. Hb F levels varied greatly because of age differences; high G gamma values were observed only in patients with a beta-thalassaemia chromosome having an Xmn I site 5' to G gamma. The data readily explain the variability in Hb A level that has been repeatedly noted in patients with Hb S(C)-beta+-thalassaemia.
Authors:
J M Gonzalez-Redondo; F Kutlar; A Kutlar; T A Stoming; J M de Pablos; Y Kilinç; T H Huisman
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  British journal of haematology     Volume:  70     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  1988 Sep 
Date Detail:
Created Date:  1988-12-22     Completed Date:  1988-12-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  85-9     Citation Subset:  IM    
Affiliation:
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, Georgia 30912-3331.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
DNA Probes
Fetal Hemoglobin / analysis
Globins / genetics*
Haplotypes
Hemoglobin A / analysis*
Hemoglobin C / genetics
Hemoglobin, Sickle / genetics
Humans
Mutation*
Thalassemia / blood,  genetics*
Grant Support
ID/Acronym/Agency:
HLB-05168/HL/NHLBI NIH HHS; HLB-15158/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Hemoglobin, Sickle; 9004-22-2/Globins; 9008-00-8/Hemoglobin C; 9034-51-9/Hemoglobin A; 9034-63-3/Fetal Hemoglobin

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