Congenital haemolytic anaemia associated with adenylate kinase deficiency

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.

Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

“…In some cases, splenectomy results in a complete remission of the hemolytic process. 7 The first case of AK deficiency was described by Szeinberg et al 1 in 2 offspring of second-cousin Arab parents with severe hemolytic anemia. In 1971, Boivin et al 2 described mental retardation in a patient with severe red cell AK deficiency and hemolytic anemia.…”

“…4 Therefore, the direct relationship between the reduced erythrocyte survival and the enzyme defect has been questioned by some authors, and other concomitant causes of hemolysis have been hypothesized. 4,6,7 Psychomotor impairment has been also observed in about 50% of the reported cases. 2,7,9 We report here for the first time 2 cases of moderate red cell AK deficiency associated with CNSHA; 1 of them represents the first description of this enzymopathy in Spain.…”

“…4,6,7 Psychomotor impairment has been also observed in about 50% of the reported cases. 2,7,9 We report here for the first time 2 cases of moderate red cell AK deficiency associated with CNSHA; 1 of them represents the first description of this enzymopathy in Spain. In one patient's parents half-normal AK activity was found, according to the autosomal recessive mode of inheritance of this enzymopathy.…”

Adenylate kinase complements nucleoside diphosphate kinase deficiency in nucleotide metabolism.

“…Fractions (28). Human adenylate kinase deficiency is associated with hemolytic anemia (35,36). Adenylate kinase has been shown to be essential for cell growth in E. coli (25).…”

Severe erythrocyte adenylate kinase deficiency due to homozygous A → G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia

“…This finding suggested that a clear cause-and-effect relationship between AK deficiency and congenital haemolytic anaemia had not been established. In the family first examined by Szeinberg et al (1969), Toren et al (1994) reported other family members with AK and G6PD deficiencies associated with congenital haemolytic anemia and in some cases associated with mental retardation. In our new case no other evident concomitant erythrocyte disorders were established.…”