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Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience Publisher Pubmed



Shamsian BS1 ; Jafari MR2 ; Abolghasemi H1 ; Eshghi P1 ; Ehsani MA3 ; Shahgholi E3 ; Aghdam MK4 ; Latifi A1 ; Jamee M5
Authors
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Authors Affiliations
  1. 1. Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Department of Pediatric Hematology and Oncology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Pathology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Experimental and Clinical Transplantation Published:2023


Abstract

Congenital sideroblastic anemia is characterized by anemia and intramitochondrial iron accumulation in erythroid precursors that form ring sideroblasts. The most common recessive forms are caused by sequence variations in the ALAS2 and SLC25A38 genes. In patients with transfusion-dependent and pyridoxine-resistant severe congenital sideroblastic anemia, hematopoietic stem cell transplant is the only curative option. Herein, we described successful implemen-tations of allogeneic hematopoietic stem cell transplant in 4 Iranian children with congenital sideroblastic anemia. The patients had presented with clinical manifestations of anemia early in life, and the diagnoses of congenital sideroblastic anemia were established through blood tests and bone marrow aspiration. Congenital sideroblastic anemia was further confirmed by the identification of pathogenic variants in SLC25A38 in 2 patients. All 4 patients received allogeneic hematopoietic stem cell transplant with myeloablative conditioning regimen that included busulfan, cyclophosphamide, and rabbit antithymocyte globulin. A combination of cyclosporine A and methotrexate or mycophenolate mofetil was used for graft-versus-host disease prophylaxis. Bone marrow and peripheral blood from sibling or related donors with fully matched human leukocyte antigen profiles were applied. The outcomes of hematopoietic stem cell transplant in patients with congenital sideroblastic anemia were favorable. Three patients achieved full donor chimerism (>95%, 98%, and 100%), and the other patient showed mixed chimerism (75%). All patients remained transfusion independent. Hemato-poietic stem cell transplant is a curative treatment that can provide long-term survival for patients with congenital sideroblastic anemia, particularly when used in a timely manner. There remain ongoing challenges in various aspects of hematopoietic stem cell transplant in patients with congenital sideroblastic anemia, which remain to be elucidated. © Baskent University 2023.