Mutations | Genotype | Type and locations |
---|---|---|
• Deletion at a single α-globin gene | -α or –α | -α3.7, −α4.2, (α)20.5 etc. |
• Absence of α-globin genes on one chromosome | – | --MED I, −-MED II, −-SEA, −-SPAN, −-FIL, −-THAI, |
• Mutations that affect the upstream regulatory elements | (αα)T | (αα)RA, (αα)ALT, (αα)JX |
• Non-deletional mutations | αTα, ααT or αTαT | αCSα, αQSα, αADANAα, α IVS1(−5nt) α |