Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.
In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a delta+27-thalassaemia point mutation, which in trans to the beta zero 39 defect invariably normalizes the HbA2 levels.
Oggiano
L
L
Istituto CNR per lo Studio della Patologia del Sangue, Sassari, Italy.
Rimini
E
E
Frogheri
L
L
Guiso
L
L
Pistidda
P
P
Longinotti
M
M
D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
D005914:Globins