| Related to blood cell development and referenced in sickle cell and beta-thal research |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| OMIM | 142335 |
| Desc | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 |
| Variant | |
| Related | also |
[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients
| GWAS snp
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| PMID
|
[PMID 18245381 ]
|
| Trait
|
Fetal hemoglobin levels
|
| Title
|
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
|
| Risk Allele
|
T
|
| P-val
|
7E-35
|
| Odds Ratio
|
0.48 [NR] s.d. decrease in HbF
|
[PMID 18667698] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia
[PMID 25806420] Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island
[PMID 32387854] The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.
]
