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1 records shown · first 60BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
PMID 25703683 | PMCID PMC4341902 | DOI 10.1016/j.bcmd.2015.01.001 · Blood cells, molecules & diseases · 2015 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7606173 | “Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels.” | 0.90 | hgvs_regex_v1 |
| gene | BCL11A | “BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Western Province | “METHODS AND RESULTS: Six BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts were approximately 6%.” | 0.95 | saudi_context_rules_v1 |