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. 2020 Oct 15;21:203. doi: 10.1186/s12881-020-01141-8

Table 2.

Mutation frequency in HbH disease patients

Mutation Type Frequency %
--MED Deletion 33 37.5
3.7 Deletion 31 35.2
α2poly-A1 (AATAAA>AATAAG) Point mutation 14 15.9
4.2 Deletion 3 3.4
20.5 Deletion 2 2.3
Codon 59 (GGC > GAC) (Hb Adana) Point mutation 2 2.3
α2 IVS-I(−5 nt) (−TGAGG) Splicing site 5 nt. Deletion 2 2.3
α2poly-A2 (AATAAA>AATGAA) Point mutation 1 1.1
Total 88 100