BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.
PMID 30563311 | PMCID PMC6351796 | DOI 10.4082/kjfm.17.0144 · Korean journal of family medicine · 2019
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BCL11A | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell disease | “BACKGROUND: Sickle cell disease is an autosomal recessive condition that results from the presence of a mutated form of hemoglobin.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “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).” | 0.80 | saudi_context_rules_v1 |
| variant | rs1427407 | “BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.” | 0.90 | hgvs_regex_v1 |