Genetic Risk Factors for CVA in Children with Hb SS

Summary

Principal Investigator: Abdullah Kutlar
Abstract: Sickle cell anemia is a single gene disorder affecting the beta globin chain of human adult hemoglobin. Varying phenotypic expressions of this disease have led to studies of genetic factors contributing to this diversity. Factors that lead to stroke and the development of cerebrovascular disease in children with sickle cell disease are not fully understood. This study will determine if common genetic polymorphisms associated with thrombophilia are important risk factors for the development of cerebrobvascular disease and stroke in these children. The genetic polymorphisms to be studied include MTHFR (methylenetetrahydrofolate reductase) variant (C677T mutation), ACE (angiotensin converting enzyme), ID (insertion/deletion) polymorphism, prothrombin 20210 G to A mutation, and mutations in the Factor V gene (Factor V Leiden, Rsa I polymorphisms; in exon 13 of the factor V gene known as R2 and R3 haplotypes, and Factor V R485K polymorphism). Hb SS patients randomized to the STOP study as well as patients screened in STOP II will provide the basis for this study.
Funding Period: 2001-09-28 - 2006-08-31
more information: NIH RePORT

Top Publications

  1. ncbi Mortality in sickle cell patients on hydroxyurea therapy
    Sule M Bakanay
    Sickle Cell Center, Department of Medicine, Office of Biostatistics and Bioinformatics, Medical College of Georgia, Augusta 30912, USA
    Blood 105:545-7. 2005

Detail Information

Publications1

  1. ncbi Mortality in sickle cell patients on hydroxyurea therapy
    Sule M Bakanay
    Sickle Cell Center, Department of Medicine, Office of Biostatistics and Bioinformatics, Medical College of Georgia, Augusta 30912, USA
    Blood 105:545-7. 2005
    ..Sickle cell patients who die while on HU therapy may represent a subgroup of older patients, possibly with more severe disease and more severe organ damage. Such patients need early identification and prompt HU institution...