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

R. Galanello, Antonello Podda, M. A. Melis, M. Monne, A. Cao

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)113-121
Number of pages9
JournalProgress in Clinical and Biological Research
Volume316 B
StatePublished - Dec 1 1989
Externally publishedYes

Fingerprint

delta-Thalassemia
Nonsense Codon
beta-Thalassemia
Codon
beta-Globins
delta-Globins
Genes
Chromosomes
Mutation
Intergenic DNA
Erythrocyte Indices
Thalassemia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family. / Galanello, R.; Podda, Antonello; Melis, M. A.; Monne, M.; Cao, A.

In: Progress in Clinical and Biological Research, Vol. 316 B, 01.12.1989, p. 113-121.

Research output: Contribution to journalArticle

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