Document Detail

Genetic and acquired predisposing factors and treatment of osteoporosis in thalassaemia major.
MedLine Citation:
PMID:  10091149     Owner:  NLM     Status:  MEDLINE    
We have previously shown a high incidence of osteopenia and osteoporosis in patients with thalassaemia major. These bone changes, were more severe in males than females, in those with diabetes mellitus and with hypogonadal-hypogonadism. Our recent studies concern the relationship of erythroid activity, assessed by serum transferrin receptors as an overall measure of anaemia, to osteoporosis. Serum transferrin receptor levels correlated with the mean pre-transfusion haemoglobin level, but there was no correlation with the incidence of osteopenia and osteoporosis. As osteoporosis has a strong genetic component we have also studied the COLIA1 and COLIA2 genes which code for the major protein of bone (type 1 collagen). Studies by others have shown in non-thalassaemic patients that a polymorphism G-->T or TT in a regulatory region of COLIA1 at the recognition site for transcription factor Sp1 is associated with the presence of osteoporosis. Our studies suggest that Sp1 polymorphism is not specific to any one ethnic group; the polymorphism occurs more commonly in females (female to male ratio 2:1). In male thalassaemia major patients the presence of the Sp1 mutation was associated with more severe osteoporosis of the spine and the hip compared with female patients. There is failure of improvement in spinal osteoporosis with bisphosphonate therapy (intravenous Pamidronate) in male patients with the Sp1 mutation.
B Wonke; C Jensen; J J Hanslip; E Prescott; M Lalloz; M Layton; S Erten; S Tuck; J E Agnew; K Raja; K Davies; A V Hoffbrand
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  11 Suppl 3     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  1998  
Date Detail:
Created Date:  1999-05-19     Completed Date:  1999-05-19     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  795-801     Citation Subset:  IM    
Department of Haematology and Women's Health, Whittington Hospital, London, UK.
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MeSH Terms
Blood Transfusion
Collagen / genetics
Hemoglobins / analysis
Osteoporosis / etiology,  genetics*,  therapy*
Polymorphism, Genetic
Receptors, Transferrin / blood
Sp1 Transcription Factor / genetics
beta-Thalassemia / complications*,  genetics
Reg. No./Substance:
0/Hemoglobins; 0/Receptors, Transferrin; 0/Sp1 Transcription Factor; 9007-34-5/Collagen

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

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