Identification of alpha-thalassemia mutations in subjects from Eastern Sicily(Italy) with abnormal hematological indices and normal Hb A2.

Di Bella, C; Salpietro Damiano, Carmelo; La Rosa, M; Cuppari, C; Piraino, B; Cutri, Mr; Rigoli, Luciana Concetta

doi:10.1007/s00277-006-0165-6

We analyzed the prevalence of alpha-thalassemia mutations in 298 subjects from Eastern Sicily (Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal HbA2 and HbF, and normal serum iron. In 131 subjects (43.9%) we found six different genotypes of alpha-thalassemia: -alpha3.7/alphaalpha (36.6%), -alpha3.7/-alpha3.7 (27.5%), -(MED)/alphaalpha (10.0%), -alpha20.5/alphaalpha (9.1%), alphaHphIalpha/alphaalpha (8.4%), alphaHphIalpha/alphaHphIalpha (6.1%), and -alpha3.7/alphaHphIalpha (2.3%). Our data underline that in Eastern Sicily populations, the molecular screening of alpha-thalassemia mutations and/or deletions may be useful to better characterize the clinically asymptomatic subjects with a slightly reduced MCV and MCH and normal iron status.

Titolo:	Identification of alpha-thalassemia mutations in subjects from Eastern Sicily(Italy) with abnormal hematological indices and normal Hb A2.
Autori:	DI BELLA C SALPIETRO DAMIANO, Carmelo LA ROSA M CUPPARI C PIRAINO B CUTRI MR RIGOLI, Luciana Concetta mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2006
Rivista:	ANNALS OF HEMATOLOGY
Abstract:	We analyzed the prevalence of alpha-thalassemia mutations in 298 subjects from Eastern Sicily (Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal HbA2 and HbF, and normal serum iron. In 131 subjects (43.9%) we found six different genotypes of alpha-thalassemia: -alpha3.7/alphaalpha (36.6%), -alpha3.7/-alpha3.7 (27.5%), -(MED)/alphaalpha (10.0%), -alpha20.5/alphaalpha (9.1%), alphaHphIalpha/alphaalpha (8.4%), alphaHphIalpha/alphaHphIalpha (6.1%), and -alpha3.7/alphaHphIalpha (2.3%). Our data underline that in Eastern Sicily populations, the molecular screening of alpha-thalassemia mutations and/or deletions may be useful to better characterize the clinically asymptomatic subjects with a slightly reduced MCV and MCH and normal iron status.
Handle:	http://hdl.handle.net/11570/1841689
Appare nelle tipologie:	14.a.1 Articolo su rivista

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