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Stroke risk in siblings with sickle cell anemia
M Catherine Driscoll1, Anne Hurlet, Lori Styles
1Department of Pediatrics, The George Washington University School of Medicine, Washington, DC, USA. cdriscol@cnmc.org
Blood
|March 1, 2003
Summary
A familial predisposition to stroke exists in sickle cell anemia (HbSS). This suggests genetic factors influence stroke risk in HbSS patients, warranting family-based genetic studies.
Area of Science:
- Hematology
- Neurology
- Genetics
Background:
- Cerebrovascular disease is a significant cause of morbidity in sickle cell anemia (HbSS).
- Clinical stroke affects ~10% of HbSS patients before age 20, with silent infarction in 22% detected by MRI.
- Phenotypic variability in HbSS suggests genetic or environmental modifiers.
Purpose of the Study:
- To investigate the familial component of clinical stroke in HbSS.
- To estimate stroke prevalence in HbSS patients and their siblings.
- To determine if stroke risk in HbSS has a hereditary basis.
Main Methods:
- Retrospective analysis of 3425 patients (<21 years) across 9 pediatric centers.
- Included 2353 HbSS patients and analyzed stroke prevalence by genotype and within sibships.
- Utilized permutation testing to assess familial aggregation of stroke in HbSS sibships.
Main Results:
- Overall stroke prevalence was 4.9%; 7.1% in HbSS patients.
- In sibships with multiple HbSS children, 10 out of 42 had 2 siblings with stroke.
- Permutation test showed a statistically significant familial clustering of stroke (P=.0012).
Conclusions:
- There is a significant familial predisposition to stroke in HbSS.
- Genetic factors likely play a role in stroke occurrence in HbSS.
- Family-based studies are recommended to identify genetic modifiers of stroke risk in HbSS.