Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India

Abstract

The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT.

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

“…To date, 454 cases from 356 families have been registered worldwide (Heimpel et al, 2010a). Bone marrow transplantation may be indicated in selected cases Remacha et al, 2002;Fermo et al, 2010;Buchbinder et al, 2012;Unal et al, 2014;Modi et al, 2015;Gambale et al, 2016). CDAs are iron loading anaemias; in severe cases iron overload may be aggravated by regular transfusions and is the main cause of morbidity and mortality.…”

“…Therapy consists of red cell transfusions (mostly occasional), iron chelation and splenectomy. Bone marrow transplantation may be indicated in selected cases Remacha et al, 2002;Fermo et al, 2010;Buchbinder et al, 2012;Unal et al, 2014;Modi et al, 2015;Gambale et al, 2016). The phenotype of CDAII is defined by laboratory evidence of ineffective erythropoiesis and haemolysis and by characteristic morphological abnormalities of bone marrow erythroblasts seen in light (Heimpel & Wendt, 1968;Heimpel et al, 2010b) and electron microscopy (Heimpel et al, 1971;Wickramasinghe et al, 1978;Wickramasinghe, 1998).…”

Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha

“…Splenectomy can increase hemoglobin levels and eliminate the need for transfusions in CDA type 2 patients without having a beneficial effect on iron overload [4,12]. Hematopoieitic stem cell transplantation is the only available curative treatment modality and can be considered in transfusion dependent, severe patients with human leukocyte antigenidentical donors [13].…”

Clinical and genetic features of congenital dyserythropoietic anemia (CDA)

“…18,19,[35][36][37] Therapies for CDA patients depend on the severity of anemia and consist of stem cell transplantation, iron chelation to prevent organ damage, splenectomy to abrogate transfusion requirements or special therapies such as interferonα 48,49 or stem cell transplantation in severe cases of CDA. [50][51][52][53][54][55][56][57][58] Conclusions: New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the CDA phenotype or support the correct diagnosis. Table 1).…”