From: Genotype-phenotype correlation of HbH disease in northern Iraq
Mutation | Type | Frequency | % |
---|---|---|---|
--MED | Deletion | 33 | 37.5 |
-α3.7 | Deletion | 31 | 35.2 |
α2poly-A1 (AATAAA>AATAAG) | Point mutation | 14 | 15.9 |
-α4.2 | Deletion | 3 | 3.4 |
-α20.5 | 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 |