Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family.
This paper describes individuals of Sardinian descent with heterozygous normal-Hb A2 beta-thalassemia who have a chromosome with a 7.2 Kb deletion in the psi beta/delta globin intergenic region and a chromosome with the codon 39 nonsense mutation. The propositus has the typical thalassemia-like red cell indices with a relatively high Hb level (13.4 g/dl) for a beta-thalassemia carrier, indicating a normal function of the beta-globin gene in cis to the 7.2 Kb deletion. The deletion starts between the psi beta and delta genes and ends in the IVS-2 of the delta-gene. His breakpoints are identical to a previously described deletion detected in the homozygous state in a patient with thalassemia intermedia, homozygous for G-greater than A mutation at position 5 of IVS-1. Because the mutation herein described silences the delta-globin gene and leaves intact the function of the in cis beta-globin gene we propose the definition of deletion delta zero-thalassemia.
Galanello
R
R
Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Italy.
Podda
A
A
Melis
M A
MA
Monne
M
M
Cao
A
A
D002872:Chromosome Deletion; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin