A new hemoglobin variant: Hb izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T]

摘要

We report a new hemoglobin (Hb) variant [β86(F2)Ala→Val; HBB:c.260C>T] that we have named Hb Izmir. We have identified Hb Izmir in a Turkish woman by ion exchange high performance liquid chromatography (HPLC) during a premarital screening program in the Aegean region of Turkey. The mother and sister of the proband also carried the same variant. Using direct sequencing, we have characterized this variant as resulting from a GCC>GTC replacement at codon 86 of the β-globin chain, corresponding to an Ala→Val amino acid substitution. In the heterozygote, the level of Hb Izmir ranged from 41.38 to 45.6. All heterozygotes had a Hb A2 level of less than 3.5. Total blood count values were normal and there were no other clinical findings. Although its clinical significance is thus far unclear, Hb Izmir may be important in hemoglobinopathy screening programs.