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Alpha Thalassaemia in Sicily: Haematological and Biosynthetic Studies
Author(s) -
Musumeci Salvatore,
Schiliro Gino,
Pizzarelli Giuseppe,
D'Agata Alfonsina,
Fischer Alberto,
Russo Giuseppe
Publication year - 1979
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1979.tb03768.x
Subject(s) - medicine , thalassemia , hemoglobinopathy , alpha thalassemia , hematology , biology , genetics , hemolytic anemia , gene , genotype
S ummary . Eight Sicilian patients with Hb H disease and their families have been studied. The standard haematological tests and the α/β chain synthesis ratios showed significantly different results in the patients with Hb H disease as compared with α thalassaemia carriers, except for Hb A 2 values. There was no significant difference in the mean RBC, MCV, Hb A 2 , Hb A 1 and Hb F of α thalassaemia carriers compared with normal controls. On the contrary significant difference was found between the mean α/β chain synthesis ratio of a thalassaemia carriers and that of the normal controls; however, the extensive overlapping of α/β values between these two conditions make this parameter insufficiently discriminant. No correlation was found between MCV, MCH, RBC and α/β chain synthesis ratio in patients with α 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 α thalassaemia gene. A possible genetic model for α thalassaemia in Sicily is presented.