Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.
In this study, we investigated the clinical and hematological features and carried out alpha- and beta-globin gene analyses in 11 Sardinian adult beta zero-thalassemia homozygotes from Northern Sardinia who were not transfusion-dependent. Oligonucleotide analysis revealed in nine out of 11 patients the nonsense mutation at codon 39, which was associated either with haplotype II or IX (14/16 and 2/16 chromosomes, respectively). Haplotype II was linked to the A gamma T mutation. The G gamma globin level ranged from 50 to 70%. Four out of nine patients (44%) were heterozygous and 3/9 (33%) homozygous for the rightward deletional type of alpha-thalassemia; two (22%) had the normal alpha-gene complement. Patients who were alpha-thalassemia homozygotes (-alpha/-alpha) showed a more balanced globin chain synthesis ratio. This study confirms that alpha-thalassemia may ameliorate the clinical picture of homozygous beta zero-thalassemia.
Oggiano
L
L
Institute of Clinical Medicine, University of Sassari, Italy.
Dore
F
F
Pistidda
P
P
Guiso
L
L
Manca
L
L
Masala
B
B
Pirastu
M
M
Rosatelli
C
C
Cao
A
A
Longinotti
M
M
D000328:Adult; D005838:Genotype; D006454:Hemoglobins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D007558:Italy; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins