An Iranian child with HbQ-Iran [alpha75 (EF4) Asp-->His]/-alpha3.7 kb/IVSII.1 G-->A: first report

Hemoglobin Q (HbQ)-Iran [alpha75 (EF4) Asp-->His] is an alpha-chain variant that in the heterozygous state has normal hematology and has not been reported in association with a thalassemic phenotype. Here, for the first time, we described the hematologic characteristics of a 5-year-old boy with HbQ-Iran/-alpha3.7 kb trans to HbQ-Iran mutation/beta0-thalassemia (IVSII.1.G-->A) living in the Kermanshah province of Iran.

The level of HbQ-Iran was found to be 22.4%. However, a significant reduction in mean corpuscular volume (59.3 fL) and mean corpuscular hemoglobin (19.6 pg) and an elevation of hemoglobin F (6.3%) was observed.

This report indicates that HbQ-Iran to be a benign structural variant of Hb, that in combination with -alpha3.7 kb gene and beta0-thalassemia, presents a minor beta-thalassemia picture with moderate anemia.