Preferred Label : Fetal hemoglobin quantitative trait locus 5;
Symbol : HBFQTL5;
CISMeF acronym : HBFQTL5;
Type : Phenotype or locus, molecular basis unknown;
Description : In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than
0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of
adults fall within the upper tail of the distribution and have HbF levels between
0.8% and 5%, a condition referred to as heterocellular hereditary persistence of fetal
hemoglobin Although these HbF levels are modest in otherwise healthy individuals,
interaction of heterocellular HPFH with beta-thalassemia (see 613985) or sickle cell
disease (SS; 603903) can increase HbF output in these individuals to levels that are
clinically beneficial (Menzel et al., 2007). For a general phenotypic description
and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749).;
Inheritance : Autosomal dominant;
Molecular basis : Associated with SNPs in the B-cell CLL/lymphoma 11A gene (BCL11A, 606557.0001);
Prefixed ID : %142335;
Origin ID : 142335;
UMLS CUI : C1969758;
Automatic exact mappings (from CISMeF team)
- ORDO concept(s)
- Semantic type(s)
