Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene

Elisa Fermo, Paola Bianchi, Cristina Vercellati, David C. Rees, Anna P. Marcello, Wilma Barcellini, Alberto Zanella

Research output: Contribution to journalArticle

Abstract

We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern.

Original languageEnglish
Pages (from-to)170-173
Number of pages4
JournalEuropean Journal of Haematology
Volume85
Issue number2
DOIs
Publication statusPublished - Aug 2010

Keywords

  • chronic haemolytic anaemia
  • erythrocyte metabolism
  • mutations
  • TPI gene
  • triose phosphate isomerase deficiency

ASJC Scopus subject areas

  • Hematology

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