Abstract
Diamond-Blackfan anemia (DBA) is a rare congenital erythropoietic disorder characterized by erythroblastopenia. Conventional treatments of DBA are the administrations of corticosteroids and blood transfusions for mitigation of anemia, and bone marrow transplantation. However, there are hurdles to overcome for long-term use and the conventional treatment. Mesenchymal stem cells (MSCs) have been noted as a novel alternative cell therapy in various diseases, and adipose tissue-derived MSCs (AdMSCs) are known for their versatile efficacies and feasibility. Here, we report the potential efficacies and the safety of intravenous administration of the autologous AdMSC in a patient with DBA for the first time. The isolation and characterization of autologous AdMSCs from a girl aged 11 years, 10 months with DBA were carried out due to the mutation of ribosomal protein s24 (RPS24). AdMSCs, diluted to 1 x 108 cells in 100 ml of saline, were infused intravenously for 1 hour. Intravenous administration of AdMSCs was carried out 5 times in 2-week intervals, and the patient was checked using various assessments (vital signs, physical examination, laboratory tests, adverse events, etc) at every visit. After 3, 6 and 9 months from the first administration of AdMSCs, red blood cell (RBC) count, hemoglobin value, and hematocrit were assessed for the efficacy. There were no side effects or adverse events observed during the treatment. Although showing subnormal values, the RBC number, hemoglobin level, and hematocrit were improved 9 months after the systemic administration of AdMSCs from baseline; the RBC count (x106 /μl), hemoglobin level (g/dl) and hematocrit level (%) were increased from 1.58 to 2.38, 5.6 to 8.3, and 16.9 to 26.1, respectively. The present case reported the first AdMSC administration for DBA patient and indicates it is possible that the intravenous administration of autologous AdMSC can be a safe alternative for DBA treatment.
Highlights
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow disorder, which characterized by erythroblastopenia[1]
DBA is a congenital hematopoietic disorder caused by the mutation in genes of the ribosomal protein[1]
The defects of RPS19, PRS24, and other genes involved in ribosomal biogenesis result in the impairment of the cell cycle and the protein synthesis rather than the differentiation process of the erythropoiesis, and give rise to the depletion of the erythrogenic progenitors[16,17]
Summary
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow disorder, which characterized by erythroblastopenia[1]. We assessed the potential efficacies and the safety of intravenous administration of autologous AdMSCs in patients with DBA for the first time. Case presentation A girl aged 11 years and 10 months was admitted to our hospital (Bethesda Hospital, Yangsan, Korea) She presented with severe anemia, left blepharoptosis, and polydactylism in the right thumb at birth, and was diagnosed with pure red cell aplasia and congenital dyserythropoietic anemia in infancy. The intravenous administrations of AdMSC were carried out five times in 2-week intervals (June 21–Aug. 14, 2018), and the patient was instructed to visit the hospital to check the various assessments for safety (vital signs, physical examination, laboratory tests, adverse events, and serious adverse events). After 3 and 6 months from the first administration of AdMSCs, red blood cell (RBC) count, the hemoglobin value, hematocrit, reticulocyte percentage were assessed for the efficacy (Table 1). IV, intravenous; F/U, Follow-up; M, months; W, weeks
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