Stroke risk in siblings with sickle cell anemia

Catherine C. Driscoll, Anne Hurlet, Lori Styles, Virgil McKie, Beatrice Files, Nancy Olivieri, Charles Pegelow, Brian Berman, Richard Drachtman, Kantilal Patel, Donald Brambilla

Research output: Contribution to journalArticle

88 Citations (Scopus)

Abstract

Cerebrovascular disease is a common cause of morbidity in sickle cell anemia (HbSS): approximately 10% of patients have a clinical stroke before 20 years of age, and another 22% have silent infarction on magnetic resonance imaging. The phenotypic variation among patients with HbSS suggests a role for modifier genes and/or environmental influences. To assess the familial component of clinical stroke in HbSS, we estimated the prevalence of clinical stroke among all patients and among HbSS sibling pairs at 9 pediatric centers. The sample included 3425 patients with sickle cell disease who were younger than 21 years, including 2353 patients with HbSS. The stroke prevalence was 4.9% for all genotypes; 7.1% for patients with HbSS; 1.1% for patients with HbSβ° thalassemia; 0.6% for patients with Sβ+ thalassemia; and 0% for patients with HbSC. In 207 sibships, more than 1 child had HbSS. There were 42 sibships in which at least 1 sibling had a stroke, and in 10 of the 42, 2 siblings had a stroke. A permutation test indicated that the number of families in which 2 children had strokes was larger than the number expected if strokes were randomly distributed among children in sibships (P = .0012). There was no difference in stroke prevalence based on sex, nor was the mean age at stroke presentation significantly different between singletons and sibships with stroke. We conclude that there is a familial predisposition to stroke in HbSS. Attempts to identify genetic modifiers should be initiated with family-based studies.

Original languageEnglish (US)
Pages (from-to)2401-2404
Number of pages4
JournalBlood
Volume101
Issue number6
DOIs
StatePublished - Mar 15 2003
Externally publishedYes

Fingerprint

Sickle Cell Anemia
Siblings
Stroke
Pediatrics
Magnetic resonance
Imaging techniques
Thalassemia
Modifier Genes
Cerebrovascular Disorders
Infarction
Genotype
Magnetic Resonance Imaging
Morbidity

ASJC Scopus subject areas

  • Hematology

Cite this

Driscoll, C. C., Hurlet, A., Styles, L., McKie, V., Files, B., Olivieri, N., ... Brambilla, D. (2003). Stroke risk in siblings with sickle cell anemia. Blood, 101(6), 2401-2404. https://doi.org/10.1182/blood.V101.6.2401

Stroke risk in siblings with sickle cell anemia. / Driscoll, Catherine C.; Hurlet, Anne; Styles, Lori; McKie, Virgil; Files, Beatrice; Olivieri, Nancy; Pegelow, Charles; Berman, Brian; Drachtman, Richard; Patel, Kantilal; Brambilla, Donald.

In: Blood, Vol. 101, No. 6, 15.03.2003, p. 2401-2404.

Research output: Contribution to journalArticle

Driscoll, CC, Hurlet, A, Styles, L, McKie, V, Files, B, Olivieri, N, Pegelow, C, Berman, B, Drachtman, R, Patel, K & Brambilla, D 2003, 'Stroke risk in siblings with sickle cell anemia', Blood, vol. 101, no. 6, pp. 2401-2404. https://doi.org/10.1182/blood.V101.6.2401
Driscoll CC, Hurlet A, Styles L, McKie V, Files B, Olivieri N et al. Stroke risk in siblings with sickle cell anemia. Blood. 2003 Mar 15;101(6):2401-2404. https://doi.org/10.1182/blood.V101.6.2401
Driscoll, Catherine C. ; Hurlet, Anne ; Styles, Lori ; McKie, Virgil ; Files, Beatrice ; Olivieri, Nancy ; Pegelow, Charles ; Berman, Brian ; Drachtman, Richard ; Patel, Kantilal ; Brambilla, Donald. / Stroke risk in siblings with sickle cell anemia. In: Blood. 2003 ; Vol. 101, No. 6. pp. 2401-2404.
@article{9658cf0cdba140fb89516311a3c05c20,
title = "Stroke risk in siblings with sickle cell anemia",
abstract = "Cerebrovascular disease is a common cause of morbidity in sickle cell anemia (HbSS): approximately 10{\%} of patients have a clinical stroke before 20 years of age, and another 22{\%} have silent infarction on magnetic resonance imaging. The phenotypic variation among patients with HbSS suggests a role for modifier genes and/or environmental influences. To assess the familial component of clinical stroke in HbSS, we estimated the prevalence of clinical stroke among all patients and among HbSS sibling pairs at 9 pediatric centers. The sample included 3425 patients with sickle cell disease who were younger than 21 years, including 2353 patients with HbSS. The stroke prevalence was 4.9{\%} for all genotypes; 7.1{\%} for patients with HbSS; 1.1{\%} for patients with HbSβ° thalassemia; 0.6{\%} for patients with Sβ+ thalassemia; and 0{\%} for patients with HbSC. In 207 sibships, more than 1 child had HbSS. There were 42 sibships in which at least 1 sibling had a stroke, and in 10 of the 42, 2 siblings had a stroke. A permutation test indicated that the number of families in which 2 children had strokes was larger than the number expected if strokes were randomly distributed among children in sibships (P = .0012). There was no difference in stroke prevalence based on sex, nor was the mean age at stroke presentation significantly different between singletons and sibships with stroke. We conclude that there is a familial predisposition to stroke in HbSS. Attempts to identify genetic modifiers should be initiated with family-based studies.",
author = "Driscoll, {Catherine C.} and Anne Hurlet and Lori Styles and Virgil McKie and Beatrice Files and Nancy Olivieri and Charles Pegelow and Brian Berman and Richard Drachtman and Kantilal Patel and Donald Brambilla",
year = "2003",
month = "3",
day = "15",
doi = "10.1182/blood.V101.6.2401",
language = "English (US)",
volume = "101",
pages = "2401--2404",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "6",

}

TY - JOUR

T1 - Stroke risk in siblings with sickle cell anemia

AU - Driscoll, Catherine C.

AU - Hurlet, Anne

AU - Styles, Lori

AU - McKie, Virgil

AU - Files, Beatrice

AU - Olivieri, Nancy

AU - Pegelow, Charles

AU - Berman, Brian

AU - Drachtman, Richard

AU - Patel, Kantilal

AU - Brambilla, Donald

PY - 2003/3/15

Y1 - 2003/3/15

N2 - Cerebrovascular disease is a common cause of morbidity in sickle cell anemia (HbSS): approximately 10% of patients have a clinical stroke before 20 years of age, and another 22% have silent infarction on magnetic resonance imaging. The phenotypic variation among patients with HbSS suggests a role for modifier genes and/or environmental influences. To assess the familial component of clinical stroke in HbSS, we estimated the prevalence of clinical stroke among all patients and among HbSS sibling pairs at 9 pediatric centers. The sample included 3425 patients with sickle cell disease who were younger than 21 years, including 2353 patients with HbSS. The stroke prevalence was 4.9% for all genotypes; 7.1% for patients with HbSS; 1.1% for patients with HbSβ° thalassemia; 0.6% for patients with Sβ+ thalassemia; and 0% for patients with HbSC. In 207 sibships, more than 1 child had HbSS. There were 42 sibships in which at least 1 sibling had a stroke, and in 10 of the 42, 2 siblings had a stroke. A permutation test indicated that the number of families in which 2 children had strokes was larger than the number expected if strokes were randomly distributed among children in sibships (P = .0012). There was no difference in stroke prevalence based on sex, nor was the mean age at stroke presentation significantly different between singletons and sibships with stroke. We conclude that there is a familial predisposition to stroke in HbSS. Attempts to identify genetic modifiers should be initiated with family-based studies.

AB - Cerebrovascular disease is a common cause of morbidity in sickle cell anemia (HbSS): approximately 10% of patients have a clinical stroke before 20 years of age, and another 22% have silent infarction on magnetic resonance imaging. The phenotypic variation among patients with HbSS suggests a role for modifier genes and/or environmental influences. To assess the familial component of clinical stroke in HbSS, we estimated the prevalence of clinical stroke among all patients and among HbSS sibling pairs at 9 pediatric centers. The sample included 3425 patients with sickle cell disease who were younger than 21 years, including 2353 patients with HbSS. The stroke prevalence was 4.9% for all genotypes; 7.1% for patients with HbSS; 1.1% for patients with HbSβ° thalassemia; 0.6% for patients with Sβ+ thalassemia; and 0% for patients with HbSC. In 207 sibships, more than 1 child had HbSS. There were 42 sibships in which at least 1 sibling had a stroke, and in 10 of the 42, 2 siblings had a stroke. A permutation test indicated that the number of families in which 2 children had strokes was larger than the number expected if strokes were randomly distributed among children in sibships (P = .0012). There was no difference in stroke prevalence based on sex, nor was the mean age at stroke presentation significantly different between singletons and sibships with stroke. We conclude that there is a familial predisposition to stroke in HbSS. Attempts to identify genetic modifiers should be initiated with family-based studies.

UR - http://www.scopus.com/inward/record.url?scp=0037443399&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037443399&partnerID=8YFLogxK

U2 - 10.1182/blood.V101.6.2401

DO - 10.1182/blood.V101.6.2401

M3 - Article

VL - 101

SP - 2401

EP - 2404

JO - Blood

JF - Blood

SN - 0006-4971

IS - 6

ER -