title: Alpha thalassaemia in Sicily: haematological and biosynthetic studies.
abstract: Eight Sicilian patients with Hb H disease and their families have been studied. The standard haematological tests and the alpha/beta chain synthesis ratios showed significantly different results in the patients with Hb H disease as compared with alpha thalassaemia carriers, except for Hb A2 values. There was no significant difference in the mean RBC, MCV, Hb A2, Hb A1 and Hb F of alpha thalassaemia carriers compared with normal controls. On the contrary significant difference was found between the mean alpha/beta chain synthesis ratio of alpha thalassaemia carriers and that of the normal controls; however, the extensive overlapping of alpha/beta values between these two conditions make this parameter insufficiently discriminant. No correlation was found between MCV, MCH, RBC and alpha/beta chain synthesis ratio in patients with alpha thalassaemia trait, suggesting that the ratio cannot be used to distinguish between carriers of a mild gene ('silent' carrier) and carriers of the more severe alpha thalassaemia gene. A possible genetic model for alpha thalassaemia in Sicily is presented.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004906:Erythrocyte Count; D004911:Erythrocyte Volume; D006580:Genetic Carrier Screening; D006447:Hemoglobin H; D006454:Hemoglobins / Q000096:biosynthesis*; D006801:Humans; D008875:Middle Aged; D012802:Sicily; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D006454:Hemoglobins; D006447:Hemoglobin H