Congenital dyserythropoietic anaemia: response to splenectomy and quantitation of ineffective erythropoiesis.

Abstract

SUMMARY The clinical and haematological features of an unusual case of congenital dyserythropoietic anaemia are described. There was a pronounced haemolytic component to the anaemia, with a mean cell life of five days, and a remarkable response to splenectomy. Measurement of the incorporation of 15N glycine into the haem of circulating red cells and into bilirubin showed that haem turnover due to ineffective erythropoiesis was increased 45 times compared with a control group (11 63 mg/kg/day, NR = 0-26 ± 0 10) and represented 51 % of total erythroid haem turnover.

Advances in the understanding of the congenital dyserythropoietic anaemias

“…In three sporadic cases of CDA type III, splenectomy had a beneficial effect (Choudhry et al , 1981; Jijina et al , 1998). Some cases of CDA other than types I–III showed a response (Samson et al , 1977) and others did not (Bird et al , 1985). Splenectomy may cause a persistent increase in the platelet count in both CDA types I and II.…”

Dyserythropoiesis and Congenital Dyserythropoietic Anaemias

“…It appears that the responders may be those with a substantial peripheral haemolytic component and evidence of destruction of red cells in the spleen as judged by ferro-erythrokinetic and surface counting studies (Barosi et al, 1979). There are also reports of severely affected patients with CDA type I (Tamary et al, 1996a) and other CDA types (Samson et al, 1977;Choudhry et al, 1981;Hirose et al, 1995) whose condition improved after splenectomy, although some fail to respond (Bird et al, 1985). Improvement of the Hb after splenectomy must imply either that there had been significant red cell destruction in the spleen or that the spleen had produced a humoral factor mediating at least some of the ineffectiveness of erythropoiesis.…”

Congenital Dyserythropoietic Anaemias: Splenectomy as a Mode of Therapy

“…Other wellrecognised types have not yet been accepted though atypical cases have been described [9][10][11][12][13]. Treatment of CDA with vitamin, steroids, anabolic hormones, vitamin Bl2, folic acid, pyridoxine and liver extract has not been very effective.…”

“…Treatment of CDA with vitamin, steroids, anabolic hormones, vitamin Bl2, folic acid, pyridoxine and liver extract has not been very effective. Splenectomy, how ever, has been helpful in raising the haemo globin levels in some cases [13,14]. Its evaluation on long-term follow-up, howev er, needs to be studied.…”