New TFR2 mutations in young Italian patients with hemochromatosis

Giorgio Biasiotto, Clara Camaschella, Gian Luca Forni, Anna Polotti, Gabriella Zecchina, Paolo Arosio

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.

Original languageEnglish
Pages (from-to)309-310
Number of pages2
JournalHaematologica
Volume93
Issue number2
DOIs
Publication statusPublished - Feb 2008

Fingerprint

Hemochromatosis
Mutation
RNA Splicing
Transferrin Receptors
Iron Overload
Control Groups
Genes

Keywords

  • DHPLC
  • Hemochromatosis
  • Iron overload

ASJC Scopus subject areas

  • Hematology

Cite this

Biasiotto, G., Camaschella, C., Forni, G. L., Polotti, A., Zecchina, G., & Arosio, P. (2008). New TFR2 mutations in young Italian patients with hemochromatosis. Haematologica, 93(2), 309-310. https://doi.org/10.3324/haematol.11942

New TFR2 mutations in young Italian patients with hemochromatosis. / Biasiotto, Giorgio; Camaschella, Clara; Forni, Gian Luca; Polotti, Anna; Zecchina, Gabriella; Arosio, Paolo.

In: Haematologica, Vol. 93, No. 2, 02.2008, p. 309-310.

Research output: Contribution to journalArticle

Biasiotto, G, Camaschella, C, Forni, GL, Polotti, A, Zecchina, G & Arosio, P 2008, 'New TFR2 mutations in young Italian patients with hemochromatosis', Haematologica, vol. 93, no. 2, pp. 309-310. https://doi.org/10.3324/haematol.11942
Biasiotto, Giorgio ; Camaschella, Clara ; Forni, Gian Luca ; Polotti, Anna ; Zecchina, Gabriella ; Arosio, Paolo. / New TFR2 mutations in young Italian patients with hemochromatosis. In: Haematologica. 2008 ; Vol. 93, No. 2. pp. 309-310.
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