Co-inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject

Objectives: This report represents the first observation in Sicily of two rare b-globin gene variants, Hb Hershey [b70(E14) Ala fi Gly] and Hb La Pommeraie [b133(H11)Val fi Met], found in a 35-year-old male patient from Messina, in the north-east of Sicily during population screening for hemoglobinopathies. Methods: The occurrence of the Hb variants was assessed by cation exchange chromatography while complete blood counts were obtained using automatic cell counters. Red cell lysates were analyzed by electrophoresis at alkaline and acid pH. Stability of hemoglobin was checked by the isopropanol precipitation test and by the heat tests while inclusion bodies and reticulocyte count were determined by incubation of blood samples with brilliant cresyl blue. Molecular analysis was performed by DNA sequencing of b- and a-globin genes. Results: We observed an abnormally high performance liquid chromatography elution with a slight reduction in mean corpuscular volume and mean corpuscular haemoglobin parameters and mutations at codon 70 GCC fi GGC (Hb Hershey) and at codon 133 GTG fi ATG (Hb La Pommeraie) in b-globin gene. Conclusion: Family analysis of three generations demonstrated the presence of these two mutations in trans. So it was possible to describe the phenotypes of these variants in a heterozygous state and in double heterozygous state.