title: Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
abstract: BACKGROUND
  Patients with thalassemia major often present with a hypercoagulable state, the pathogenesis of which is still not understood.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pathology, Faculty of Medicine, Kuwait University, Safat, Kuwait.
authors: Nada Y
authors: NY
authors: Mustafa
authors: Rajaa
authors: R
authors: Marouf
authors: Salah
authors: S
authors: Al-Humood
authors: Suad M
authors: SM
authors: Al-Fadhli
authors: Olusegun
authors: O
authors: Mojiminiyi
mesh_terms: D020016:Activated Protein C Resistance / Q000097:blood; D000293:Adolescent; D000328:Adult; D000991:Antithrombins / Q000378:metabolism; D001483:Base Sequence; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000209:etiology* / Q000235:genetics; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D006801:Humans; D007730:Kuwait; D016682:Lupus Coagulation Inhibitor / Q000097:blood; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D012307:Risk Factors; D013923:Thromboembolism / Q000097:blood / Q000209:etiology / Q000235:genetics; D055815:Young Adult; D017086:beta-Thalassemia / Q000097:blood* / Q000150:complications / Q000235:genetics*
chemical_list: D000991:Antithrombins; D017931:DNA Primers; D016682:Lupus Coagulation Inhibitor; D011486:Protein C; D017293:Protein S; D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)