A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis.
The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border-line HbA2 levels and normal HbF proved to be heterozygotes for delta(+) 27 and beta(0) 39 point mutations in cis by allele specific oligonucleotide hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these beta-thalassemia carriers shows normal HbA2 levels, knowledge of the molecular basis of this novel delta beta-thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling.
Oggiano
L
L
Istituto di Ematologia ed Endocrinologia, Università degli Studi Sassari, Italy.
Guiso
L
L
Frogheri
L
L
Loudianos
G
G
Pistidda
P
P
Rimini
E
E
Pirastu
M
M
Cao
A
A
Longinotti
M
M
D001483:Base Sequence; D005319:Fetal Hemoglobin / Q000378:metabolism; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin