Document Detail


Incidence of endocrine complications and clinical disease severity related to genotype analysis and iron overload in patients with beta-thalassaemia.
MedLine Citation:
PMID:  9293854     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The incidence of endocrine dysfunction in relation to the detailed genotype of beta-thalassaemia is investigated in this study. In addition, the association of genotype to specific clinical features of beta-thalassaemia is examined, together with the relationship between serum ferritin levels and endocrine complications. Ninety-seven patients were included, all with transfusion dependent beta-thalassaemia. Patients were divided into 2 categories; group 1 consisted of patients with a beta0/beta0 genotype with or without a concomitant alpha-globin gene deletion as well as patients with beta0/beta+ or beta+/beta+ genotype and normal alpha-globin chain synthesis. Group 2 included patients with beta+/beta+ or beta+/beta0 genotype and one alpha-globin chain deletion and those with a moderate amount of beta-globin chain synthesis (beta++) and normal alpha-globin chain synthesis. The results showed that group 1 patients were more likely to have severe clinical disease (p=0.005). Sixty-four patients (66%) had at least 1 endocrine disorder and 39 (40%) had multiple endocrinopathies; the most common abnormality was hypogonadotrophic hypogonadism (HH). There was a significant association between patients with group 1 genotypes and the presence of HH and impaired glucose tolerance or diabetes. A positive correlation was demonstrated between serum ferritin concentrations and the presence of thyroid or parathyroid dysfunction.
Authors:
C E Jensen; S M Tuck; J Old; R W Morris; A Yardumian; V De Sanctis; A V Hoffbrand; B Wonke
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of haematology     Volume:  59     ISSN:  0902-4441     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-10-01     Completed Date:  1997-10-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  76-81     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynaecology, The Whittington Hospital, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Deferoxamine / therapeutic use
Endocrine System Diseases / complications*
Female
Genotype
Globins / genetics
Humans
Hypogonadism / complications
Iron Overload / metabolism*
Male
Time Factors
beta-Thalassemia / complications,  genetics,  physiopathology*
Chemical
Reg. No./Substance:
70-51-9/Deferoxamine; 9004-22-2/Globins

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


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