Genetic determinants and stroke in children with sickle cell disease<sup>,</sup>

Rodrigues, Daniela O.W.; Ribeiro, Luiz C.; Sudário, Lysla C.; Teixeira, Maria T.B.; Martins, Marina L.; Pittella, Anuska M.O.L.; Fernandes Junior, Irtis de O.

doi:10.1016/j.jped.2016.01.010

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Original articles • J. Pediatr. (Rio J.) 92 (6) • Nov-Dec 2016 • https://doi.org/10.1016/j.jped.2016.01.010 copy

Genetic determinants and stroke in children with sickle cell disease^☆ ☆ Please cite this article as: Rodrigues DO, Ribeiro LC, Sudário LC, Teixeira MT, Martins ML, Pittella AM, et al. Genetic determinants and stroke in children with sickle cell disease. J Pediatr (Rio J). 2016;92:602-8. ^,^☆☆ ☆☆ Study carried out at Fundação Hemominas and Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

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.

Conclusion:

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.

KEYWORDS
Sickle cell anemia; Stroke; Genetic markers; Alpha thalassemia; Haplotypes

Analysis of the beta-chain globin	Frequency	%
CAR CAR	35	53
CAR BEN	20	30.3
CAR SEN	1	1.5
CAR ATIP	3	4.5
ATIP ATIP	1	1.5
Not performed	6	9.1
Total	66	100

Factors	Absolute frequency and percentage of variables		Absolute frequency and percentage of presence of stroke		p-Value
	n	%	n	%
Type of hemoglobinopathy					0.001
SCA	66	60	18	27.3
S/beta⁰, S/beta⁺, SC	44	40	1	2.3

Gender					0.044
Female	52	47.3	5	9.6
Male	58	52.7	14	24.1

Alpha thalassemia ^a a 106 tests were performed for α-thal and 102 for haplotype identification.					0.164
Present	34	32.1	3	8.8
Absent	72	67.9	14	19.4

Haplotypes ^a a 106 tests were performed for α-thal and 102 for haplotype identification.					0.116
CAR	91	89.2	17	18.7
Non-CAR	11	10.8	0	0.00

Fetal hemoglobin					0.293
(≥10%)	46	41.8	10	21.7
(<10%)	64	58.2	9	14.1

Family income ^b b 108 socioeconomic questionnaires were applied.					0.432
Up to 2 MW	80	74	12	15
>2 MW	28	26	6	21.4

Maternal level of schooling ^b b 108 socioeconomic questionnaires were applied.					0.329
Incomplete elementary school	41	38	5	12.2
Complete elementary school	67	62	13	19.4

Paternal level of schooling ^b b 108 socioeconomic questionnaires were applied.					0.491
Incomplete elementary school	56	51.8	8	14.3
Complete elementary school	52	48.2	10	19.2

Factors	Absolute frequency and percentage of categories of factors		Absolute frequency and percentage of presence of stroke		p-Value
	n	%	n	%
Type of hemoglobinopathy
SCD	66	100	18	27.3

Gender					0.042
Female	28	42.4	4	14.3
Male	38	57.6	14	36.8

Alpha thalassemia ^a a 63 tests were performed for α-thal and 60 for haplotype identification.					0.196
Present	20	30.3	3	15
Absent	43	65.2	13	30.2

Haplotypes ^a a 63 tests were performed for α-thal and 60 for haplotype identification.					0.543
CAR	59	89.4	16	27.1
Non-CAR	1	1.5	0	0.00

Fetal Hemoglobin
(≥10%)	41	62.1	9	22
(<10%)	25	37.9	9	36

Family income ^b b 65 socioeconomic questionnaires were applied.					0.593
Up to 2 MW	49	74.2	12	24.5
>2 MW	16	24.2	5	31.3

Maternal level of schooling ^b b 65 socioeconomic questionnaires were applied.					0.854
Incomplete elementary school	18	27.3	5	27.8
Complete elementary school	47	71.2	12	25.5

Paternal level of schooling ^b b 65 socioeconomic questionnaires were applied.					0.591
Incomplete elementary school	27	40.9	8	29.6
Complete elementary school	38	57.6	9	23.7

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[1] * Corresponding author. E-mail:danielawerneckhemato@hotmail.com (D.O.W. Rodrigues).