We describe an Italian family from Sardinia in which 4 subjects had high levels of HbF with normal HbA 2. In every case hematological data and erythrocyte indices were normal, globin chain synthesis was balanced and Hb F distribution among the erythrocytes was pancellular. γ chain composition studies revealed mostly Aγ chains; all these data could be in keeping with a form of HPFH Greek type. However, unlike this condition, the β gene linked to this genetic defect seems to be completely suppressed as in δβ-thalassemia. Thus we suggest that this defect has intermediate features between HPFH Greek type and δβ-thalassemia.
High Hb F levels in a Sardinian family: a genetic defect intermediate between HPFH Greek type and delta beta-thalassemia? / O. David, R. Miniero, L. Sacchetti, M..D. Cappellini, B. Giglioni, P. Comi, S. Ottolenghi, G. Saglio, A. Guerrasio, C. Camaschella, U. Mazza. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 67:4(1982 Aug), pp. 499-507.
|Titolo:||High Hb F levels in a Sardinian family: a genetic defect intermediate between HPFH Greek type and delta beta-thalassemia?|
|Parole Chiave:||Child; Female; Fetal Hemoglobin; Humans; Italy; Male; Pedigree; Thalassemia|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||ago-1982|
|Appare nelle tipologie:||01 - Articolo su periodico|