@entity8674 , an @entity74 , mainly affects @entity1 from the Mediterranean region. This life-threatening @entity417 is so severe that regular blood transfusions and @entity68 -chelating therapy is obligatory throughout life. Commonly occurring complications, especially in adult @entity1 , are @entity2331 and @entity170 . @entity3604 are strongly associated with bone density, which is under polygenic control. Type I collagen, which is encoded by the COLIA1 and COLIA2 genes, is the major protein in the bone. A @entity13285 polymorphism in the regulatory region of the COLIA1 gene at a recognition site for transcription factor @entity3419 has been strongly associated with @entity3604 . In this study, the @entity13285 polymorphism is screened in 42 @entity8674 major and 10 @entity8674 intermedia @entity1 . 64.3% of the @entity8674 @entity1 were heterozygotes for @entity13285 (Ss) polymorphism and 35.7% were homozygous for G/G (SS), 60% of the @entity8674 intermedia @entity1 were heterozygous (Ss) and 40% were homozygous (ss). The number of heterozygotes in the @entity8674 major group was significantly higher, compared to the control group (F = 13.615, P = 0.001). The number of heterozygotes in @entity8674 intermedia group was also significantly higher, compared to the control group (F = 5.158, P = 0.029). @entity1 who are @entity13285 heterozygotes (Ss) at the polymorphic @entity3419 site have a lower bone mineral density than G/G homozygotes (SS) (P = 0.01).

Polymorphism analysis in the COLIA1 gene of XXXX with thalassemia major and intermedia.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'people'] @entity3604 :: ('MESH:D058866', 'Disease') :: ['Osteoporotic fractures', 'osteoporotic fractures'] @entity417 :: ('MESH:D000740', 'Disease') :: ['anemia'] @entity170 :: ('MESH:D010024', 'Disease') :: ['osteoporosis'] @entity13285 :: ('c|SUB|G||T', 'DNAMutation') :: ['G-->T', 'G/T'] @entity2331 :: ('MESH:D001851', 'Disease') :: ['osteopenia'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited blood disorder'] @entity3419 :: ('6667', 'Gene') :: ['Sp1'] @entity8674 :: ('MESH:D017086', 'Disease') :: ['beta-thalassemia', 'beta-Thalassemia'] @entity68 :: ('MESH:D007501', 'Chemical') :: ['iron']
@entity1 :: (9606,Species) :: ['patients']
