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Co‐inheritance of Hb Hershey [β70(E14) Ala→Gly] and Hb La Pommeraie [β133(H11)Val→Met] in a Sicilian subject
Author(s) -
Giambona Antonino,
Vinciguerra Margherita,
Passarello Cristina,
La Rosa Maria A.,
Lo Giudice Giuseppina,
Di Bella Chiara,
Amorini Maria,
Iacona Francesca,
Salpietro Carmelo,
Maggio Aurelio,
Rigoli Luciana
Publication year - 2010
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2010.01414.x
Subject(s) - mean corpuscular volume , microbiology and biotechnology , hemoglobin , globin , mean corpuscular hemoglobin , chemistry , hemoglobin variants , biology , mean corpuscular hemoglobin concentration , genetics , biochemistry
Objectives: This report represents the first observation in Sicily of two rare β ‐globin gene variants, Hb Hershey [ β 70(E14) Ala→Gly] and Hb La Pommeraie [ β 133(H11)Val→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 β‐ and α ‐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 G C C→G G C (Hb Hershey) and at codon 133 G TG→ A TG (Hb La Pommeraie) in β ‐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.