Genetic determinants and stroke in children with sickle cell disease.
OBJECTIVE
To verify genetic determinants associated with stroke in children with sickle cell disease (SCD).


METHODS
Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA), using the chi-squared test in the program SPSS®version 14.0.


RESULTS
Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR) was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p=0.001) and males (24.1% vs. 9.6%; p=0.044). The presence of α-thal (p=0.196), the CAR haplotype (p=0.543), and socioeconomic factors were not statistically significant in association with the occurrence of stroke.


CONCLUSIONS
There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD.
Fundação Hemominas, Juiz de Fora, MG, Brazil; Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil. Electronic address: danielawerneckhemato@hotmail.com.
Daniela O W
DO
Rodrigues
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil; Universidade Federal de Juiz de Fora (UFJF), Departamento de Estatística, Juiz de Fora, MG, Brazil.
Luiz C
LC
Ribeiro
Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), Juiz de Fora, MG, Brazil; Universidade Presidente Antônio Carlos (UNIPAC), Faculdade de Medicina, Juiz de Fora, MG, Brazil.
Lysla C
LC
Sudário
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil; Universidade Federal de Juiz de Fora (UFJF), Departamento de Saúde Coletiva, Juiz de Fora, MG, Brazil.
Maria T B
MT
Teixeira
Fundação Hemominas, Juiz de Fora, MG, Brazil; Fundação Hemominas, Setor de Pesquisa, Belo Horizonte, MG, Brazil.
Marina L
ML
Martins
Faculdade de Ciências Médicas e da Saúde de Juiz de Fora (SUPREMA), Juiz de Fora, MG, Brazil.
Anuska M O L
AM
Pittella
Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), Juiz de Fora, MG, Brazil; Universidade Presidente Antônio Carlos (UNIPAC), Faculdade de Medicina, Juiz de Fora, MG, Brazil.
Irtis de O Fernandes
IO
Junior
D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000150:complications / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D011446:Prospective Studies; D012307:Risk Factors; D012737:Sex Factors; D020521:Stroke / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D017585:Ultrasonography, Doppler, Transcranial; D017085:alpha-Thalassemia / Q000235:genetics
Acidente vascular cerebral; Alfa talassemia; Alpha thalassemia; Anemia falciforme; Genetic markers; Haplotypes; Haplótipos; Marcadores genéticos; Sickle cell anemia; Stroke