title: Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2.
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.
authors.affiliation: Unità Operativa di Genetica, Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, pad NI, Policlinico Universitario, Messina, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Di Bella
authors.forename: Carmelo
authors.initials: C
authors.lastname: Salpietro
authors.forename: Mariangela
authors.initials: M
authors.lastname: La Rosa
authors.forename: Caterina
authors.initials: C
authors.lastname: Cuppari
authors.forename: Basilia
authors.initials: B
authors.lastname: Piraino
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Cutri
authors.forename: Luciana
authors.initials: L
authors.lastname: Rigoli
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D012802:Sicily; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2