Genetic Risk Factors for CVA in Children with Hb SS

Project: Research project

Project Details

Description

DESCRIPTION (provided by applicant):
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.
StatusFinished
Effective start/end date9/28/018/31/06

Funding

  • National Heart, Lung, and Blood Institute: $322,875.00
  • National Heart, Lung, and Blood Institute: $347,692.00
  • National Heart, Lung, and Blood Institute: $347,437.00
  • National Heart, Lung, and Blood Institute: $312,526.00

ASJC

  • Medicine(all)

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