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Table 2 Mutation frequency in HbH disease patients

From: Genotype-phenotype correlation of HbH disease in northern Iraq

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