Congenital Dyserythropoietic Anaemias: Splenectomy as a Mode of Therapy

Abstract

3 cases of congenital dyserythropoietic anaemia (type I, case 3; type III, cases 1 and 2) are reported with a follow-up of 8–10 years. Conventional therapy with vitamins, steroids and/or anabolic hormones was ineffective. Regular blood transfusions were required to maintain the haemoglobin levels around 8 g/dl. Splenectomy, however, resulted in a sustained rise in haemoglobin without blood transfusions. During the follow-up period varying from 40 to 77 months after splenectomy, diabetes mellitus was detected in all 3 patients. Liver biopsy showed haemosiderosis in 2 patients with cirrhosis in one of them. It is suggested that splenectomy could be an effective mode of therapy to reduce the need for blood transfusion in congenital dyserythropoietic anaemias.

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation

“…39 Our observations are consistent with the only report describing long-term follow-up in one patient. 32 As in CDA II, 33 splenectomy does not prevent further iron overloading.…”

The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

“…However, this did not aect the course of his CRMO which remained frequently recurrent and aggressive showing that there is no correlation between the severity of CDA and CRMO. Splenectomy was reported to be eective in CDA types 1, 2 and 3 [5,6]; nevertheless, the favourable response to splenectomy in our patient with the syndrome of CRMO and CDA has not been reported before. Recently interferons were reported as successful therapeutic measures [1,10,22,24].…”

A Patient with Congenital Dyserythropoietic Anaemia Type III Presenting with Stillbirths

“…Repeated pregnancies and hypersplenism as a result of multiple transfusions might have contributed to this severity. Splenectomy in our case proved beneficial like in the 2 other patients reported in the literature [5]. As anaemia is usually mild to moderate in CDA type III, hydrops fetalis has never been reported with this disease before, though it has been reported with other types of CDA [6].…”