Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family.

Abstract

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.

• Authors: R Galanello, A Podda, M A Melis, M Monne, A Cao
• Journal: Progress in clinical and biological research (Prog Clin Biol Res) Vol. 316B Pg. 113-21 ( 1989) ISSN: 0361-7742 [Print] United States
• PMID: 2482492 (Publication Type: Case Reports, Journal Article)

Chemical References

• Globins
• Hemoglobin A2
• Fetal Hemoglobin

Topics

• Chromosome Deletion
• Female
• Fetal Hemoglobin (analysis)
• Globins (genetics)
• Hemoglobin A2 (analysis)
• Heterozygote
• Humans
• Italy
• Male
• Mutation
• Pedigree
• Polymorphism, Restriction Fragment Length
• Thalassemia (genetics)