Co-inheritance of Hb Hershey [beta70(E14) Ala-->Gly] and Hb La Pommeraie [beta133(H11)Val-->Met] in a Sicilian subject.
OBJECTIVE
This report represents the first observation in Sicily of two rare beta-globin gene variants, Hb Hershey [beta70(E14) Ala-->Gly] and Hb La Pommeraie [beta133(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 beta- and alpha-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-->GGC (Hb Hershey) and at codon 133 GTG-->ATG (Hb La Pommeraie) in beta-globin gene.


CONCLUSIONS
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.
Giambona
Antonino
A
UOC Ematologia II, AOR Villa Sofia-Cervello, Palermo, Italy. giambic@libero.it
Vinciguerra
Margherita
M
Passarello
Cristina
C
La Rosa
Maria A
MA
Lo Giudice
Giuseppina
G
Di Bella
Chiara
C
Amorini
Maria
M
Iacona
Francesca
F
Salpietro
Carmelo
C
Maggio
Aurelio
A
Rigoli
Luciana
L
D000328:Adult; D000409:Alanine / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D005260:Female; D005998:Glycine / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics*; D010375:Pedigree; D012802:Sicily; D014633:Valine / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C508156:hemoglobin Hershey; C550301:hemoglobin La Pommeraie; D008715:Methionine; D014633:Valine; D000409:Alanine; D005998:Glycine