title: The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease.
abstract: Avascular necrosis (AVN) of the humeral and femoral heads is a frequent and debilitating complication of sickle cell disease. Some of the risk factors for AVN are alpha-thalassemia and age. Recently, newly discovered thrombophilia mutations have been associated with AVN in patients without sickle cell disease. We studied the frequency of the thermolabile methylene tetrahydrofolate reductase (MTHFR) variant (C677T) in adult sickle cell patients with and without AVN. The frequency of the MTHFR mutation was 35.6% in patients with AVN and 12.9% in those without AVN (p = 0.006). These data suggest that the thermolabile MTHFR variant may be a contributing risk factor for AVN in some populations with sickle cell disease.
authors.affiliation: Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta 30912, USA. akutlar@mail.mcg.edu
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: I
authors.initials: I
authors.lastname: Turker
authors.forename: C
authors.initials: C
authors.lastname: Tural
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D010020:Osteonecrosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D017354:Point Mutation; D012307:Risk Factors; D017085:alpha-Thalassemia / Q000150:complications / Q000201:enzymology / Q000235:genetics
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)