| Sickle cell anemia | Homozygosity for the HbS mutation (c.20A > T: β7glu-val: GAG-GTG; rs334) |
| HPFH | Hereditary persistence of fetal hemoglobin |
| Mutation 1 | A rare genetic variant |
| Polymorphism 1 | A genetic variant present in ~1% of a population |
| SNP | Single nucleotide polymorphism |
| FACS | Fluorescence-activated cell sorting |
| HBB, HBD, HBG2, HBG1 | β-, δ-, Gγ-, Aγ-globin genes |
| QTL | Quantitative trait locus |
| LCR | Locus control region |
| CD34+ | Hematopoietic stem and progenitor cells |
| HbF | Fetal hemoglobin (α2γ2) |
| F-cell | Red cells containing enough HbF to be detectable by FACS, usually ~6 pg |
| HbS | Sickle hemoglobin (α2βS2) |
| bp | Base pairs |
| 1 A mutation might reach polymorphic frequencies if it confers a selective advantage, such as the HbS gene where malaria is endemic. | |
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