Document Detail

Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
MedLine Citation:
PMID:  19940469     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Patients with thalassemia major often present with a hypercoagulable state, the pathogenesis of which is still not understood. MATERIALS AND METHODS: This study evaluates the risk factors for hypercoagulability in 50 beta-thalassemia major patients and 50 healthy controls. Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed. MTHFR C677T mutation was determined. RESULTS: Significant reductions in PC, PS and AT were noted in patients. Only 4% of the patients had hyperhomocysteinemia. Thirty-two percent of the patients were heterozygous and 4% were homozygous for MTHFR C677T mutation. CONCLUSION: The natural coagulation inhibitors PC, PS and AT were significantly reduced in patients with beta-thalassemia major and were thus important risk factors for the hypercoagulable state, but hyperhomocysteinemia and MTHFR mutation do not seem to be significant risk factors for thromboembolic events.
Nada Y Mustafa; Rajaa Marouf; Salah Al-Humood; Suad M Al-Fadhli; Olusegun Mojiminiyi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-11-21
Journal Detail:
Title:  Acta haematologica     Volume:  123     ISSN:  1421-9662     ISO Abbreviation:  Acta Haematol.     Publication Date:  2010  
Date Detail:
Created Date:  2009-12-17     Completed Date:  2010-01-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0141053     Medline TA:  Acta Haematol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  37-42     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 S. Karger AG, Basel.
Department of Pathology, Faculty of Medicine, Kuwait University, Safat, Kuwait.
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MeSH Terms
Activated Protein C Resistance / blood
Antithrombins / metabolism
Base Sequence
Blood Coagulation Disorders / blood*,  etiology*,  genetics
Case-Control Studies
DNA Primers / genetics
Homocysteine / blood
Lupus Coagulation Inhibitor / blood
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Point Mutation*
Protein C / metabolism
Protein S / metabolism
Risk Factors
Thromboembolism / blood,  etiology,  genetics
Young Adult
beta-Thalassemia / blood*,  complications,  genetics*
Reg. No./Substance:
0/Antithrombins; 0/DNA Primers; 0/Lupus Coagulation Inhibitor; 0/Protein C; 0/Protein S; 454-28-4/Homocysteine; EC Reductase (NADPH2)

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