CONGENITAL HEMOLYTIC-ANEMIA ASSOCIATED WITH ADENYLATE KINASE-DEFICIENCY

Chronic haemolytic anaemia associated with adenylate kinase (AK) defic iency is very rare and only seven cases in five families have been des cribed. We present six children of one family who are deficient of thi s enzyme and in three of them a combined G6PD deficiency was found. AK deficiency was transmitted by an autosomal recessive gene and heteroz ygous state was not accompanied by disease, whereas homozygously affec ted individuals present a congenital chronic non-spherocytic haemolyti c 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 ret arded. Splenectomy performed in five of the six patients resulted in c omplete remission of the haemolytic process.