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BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.

ABSTRACT: BACKGROUND:Sickle cell disease is an autosomal recessive condition that results from the presence of a mutated form of hemoglobin. Some genetic variants of BCL11A are amenable to therapeutic manipulation. The present study investigated the relationship of a BCL11A variant (rs1427407) and its plasma levels with vaso-occlusive crises and stroke complications among patients in Sudan with sickle cell disease. METHODS:This cross-sectional study was performed between June 2014 and October 2016. The subjects included 166 patients who were diagnosed with sickle cell disease and 35 healthy control subjects, who were grouped according to sex and age (<15 years, 15-25 years, and >25 years). All patients and/or their guardians provided informed consent. Blood samples were collected from the patients and controls under aseptic conditions. RESULTS:Plasma BCL11A levels were elevated in cases with vaso-occlusive crises that lasted for >3 years. In addition, plasma BCL11A levels were high in cases with the GG genotype (vs. GT and TT) at rs1427407. Furthermore, the BCL11A rs1427407 GG/GT genotypes increased the risk of vaso-occlusive crisis and stroke in the patients with sickle cell disease. CONCLUSION:The BCL11A variant (rs1427407) and its plasma levels were associated with vaso-occlusive crisis and stroke in patients with sickle cell disease.

SUBMITTER: Hassan FM

PROVIDER: S-EPMC6351796 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.

Hassan Fathelrahman Mahdi FM Al-Zahrani Faisal Mousa FM

Korean journal of family medicine 20181219 1

<h4>Background</h4>Sickle cell disease is an autosomal recessive condition that results from the presence of a mutated form of hemoglobin. Some genetic variants of BCL11A are amenable to therapeutic manipulation. The present study investigated the relationship of a BCL11A variant (rs1427407) and its plasma levels with vaso-occlusive crises and stroke complications among patients in Sudan with sickle cell disease.<h4>Methods</h4>This cross-sectional study was performed between June 2014 and Octob ...[more]

PMID: 30563311

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Project description:Background Sickle cell disease (SCD) is autosomal recessive hemolytic anemia due to hemoglobinopathy commonly in Sub-Saharan Africa, and particularly in Sudan. The disease induces a pro-inflammatory cascade in the intimal layer that leads to hyperplasia and progressive stenosis in the major vessel of the circle of Willis. This is associated with the development of Moyamoya collaterals. The aim of this study is to highlight the frequency of Moyamoya syndrome in Sudanese pediatric patients with sickle cell disease presenting with stroke. Materials and methods A descriptive cross-sectional hospital-based study was conducted in the Department of Hematology at Gaafar Ibnauf Pediatric Tertiary Hospital in Khartoum state in Sudan, in the period between March 2021 and August 2021. Secondary data has been collected from the medical record after ethical approval and informed consent. Results A total of 104 patients were included in the study. The males were the majority, about 60 (57.7) compared to 44 (42.3%) females. More than half of our study population was in the school-age 54 compared to 42 adolescents and only 8 patients of preschool age. Only 50 out of 104 patients had diagnostic MRA which revealed features of Moyamoya syndrome in 48 (96%) patients. Motor weakness (100%), aphasia (52.9%), and facial palsy (35%) were the major stroke presentations. The left anterior circulation territory was the most common site of moyamoya features involvement in 31 patients out of 48. Conclusion Stroke is a common problem in Sudanese pediatric patients with sickle cell disease, with a very high frequency of Moyamoya vasculopathy among patients with stroke presentation. The burden of Moyamoya syndrome in Sudanese pediatric patients with sickle cell disease is underestimated due to the cost of the available screening and diagnostic tools. Highlights • Sickle cell disease is considered one of the significant causes of anemia in Sudan, especially in the western part of the country.• Moyamoya syndrome is a cerebrovascular disease accompanied by progressive stenosis of the intracranial ICA and its proximal branches.• The aim of this study is to highlight the frequency of Moyamoya syndrome in Sudanese pediatric patients with sickle cell disease.

Dataset Information

BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.

Publications

BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.

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