Table 1 The variants at the β- and α-globin loci that confer resistance to malaria and information about them, including their chromosomal location, molecular basis of the mutations, estimated number of independent mutations, extent of anemia and their general highest frequency
Gene (chromosome) | Mutation | Anemia in homozygotes | High frequency | |
|---|---|---|---|---|
Change | Number | |||
HBB or β-globin (11p15.5) | ||||
S | Glu6Val GAG/GTG | 2–5 | Severe | 0.2 |
C | Glu6Lys GAG/AAG | 2 | None | 0.5 |
E | Glu26Lys GAG to AAG | 1–3 | Mild | 0.7 |
β-thalassemia | Many | Many | Severe | 0.1 |
HBA or α-globin (16p13.3) | ||||
α-thalassemia | α+ or α one gene deleted | Many | Very mild | 0.8 |
α0 or −−both genes deleted | Many | Severe or fatal | 0.03 | |
