A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia

Elisa Fermo, Paola Bianchi, Cristina Vercellati, Silvia Micheli, Anna Paola Marcello, Dario Portaleone, Alberto Zanella

Research output: Contribution to journalArticlepeer-review

Abstract

We report the hematological, biochemical, and molecular characteristics of a new defective adenylate kinase (AK) variant associated with chronic hemolytic anemia. The propositus was a 3-year-old girl of southern Italian origin with a history of severe anemia and occasional need for blood transfusion. The study of the most important red cell enzymes revealed low AK activity (22% of normal) in the propositus and intermediate values in the parents. The sequence of erythrocyte AK-1 gene showed a new homozygous mutation (delG138) determining a frameshift and a premature stop at codon 91.

Original languageEnglish
Pages (from-to)146-149
Number of pages4
JournalBlood cells, molecules & diseases
Volume33
Issue number2
DOIs
Publication statusPublished - Sep 2004

Keywords

  • Adenylate kinase deficiency
  • AK-1 gene
  • Chronic hemolytic anemia
  • Erythrocyte metabolism
  • Mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology

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