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. 2014 Jul 25;6(1):1–8. doi: 10.1007/s12687-014-0195-z

Table 3.

Mutation spectrum for α-gene and its coinheritance with other mutations

Categories No. of samples analysed Single deletions Double deletions Triplications Total
α3.7/αα α4.2/αα α3.73.7 α4.24.2 α3.74.2 αααanti3.7 αααanti4.2
Suspected samples 480 53 24 14 6 23 13 3 136
HbS/E variants 56 7 5 2 2 1 0 0 17
β-gene mutants 56 3 1 0 0 2 0 0 6
Controls 347 27 07 01 03 01 06 01 46
Total 939 90 37 17 11 27 19 4 205

α3.7/αα and α4.2/αα represent single gene deletion; α3.73.7, α4.24.2 and α3.74.2 represent double gene deletions; and αααanti3.7 and αααanti4.2 represent α-gene triplications