Congenital haemolytic anaemia associated with adenylate kinase deficiency

A. Toren, F. Brok-Simoni, I. Ben-Bassat, F. Holtzman, M. Mandel, Y. Neumann, B. Ramot, G. Rechavi, G. Kende

Research output: Contribution to journalArticlepeer-review

Abstract

Chronic haemolytic anaemia associated with adenylate kinase (AK) deficiency is very rare and only seven cases in five families have been described. We present six children of one family who are deficient of this enzyme and in three of them a combined G6PD deficiency was found. AK deficiency was transmitted by an autosomal recessive gene and heterozygous state was not accompanied by disease, whereas homozygously affected individuals present a congenital chronic non-spherocytic haemolytic anaemia with haemoglobin levels of 8-9 g/dl. Patients also deficient in G6PD suffer from a more severe haemolytic anaemia with haemoglobin levels around 6 g/dl. The AK-deficient children are also mentally retarded. Splenectomy performed in five of the six patients resulted in complete remission of the haemolytic process.

Original languageEnglish
Pages (from-to)376-380
Number of pages5
JournalBritish Journal of Haematology
Volume87
Issue number2
DOIs
StatePublished - 1994
Externally publishedYes

Keywords

  • AK deficiency
  • G6PD deficiency
  • Mental retardation
  • Non-spherocytic haemolytic anaemia

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