Sickle cell disease and beta-thalassemia are caused by abnormal hemoglobin (Hb) derived from mutation of the HBB gene encoding beta-globin. Compound heterozygous status for both mutations results in Hb S/beta-thalassemia (sickle-beta-thalassemia). Vaso-occlusive phenomena and hemolysis are the clinical hallmarks and major causes of mortality. Due to the limited availability of hematopoietic stem cell transplantation with or without gene therapy, red blood cell (RBC) exchange transfusion is the first-line adjunctive therapy. Here we report on a successful reduction of Hb S level in a Tunisian male sickle-beta-thalassemia patient by RBC exchange transfusion for primary prophylactic transfusion therapy before flying to his country. Results of both Ion exchange high-performance liquid chromatography and HBB gene mutation analysis indicated sickle-beta-thalassemia. Pre-erythrocytapheresis Hb S level was 80.6% of total Hb. Two volumes of RBC exchange were performed using automated erythrocytapheresis with the COBE Spectra Apheresis System (Version 7.0, Caridian BCT, CO, USA). Post-erythrocytapheresis Hb S level was 23.4% of total Hb and hematocrit level was 32.6%, both of which met the target end points. This is the first case report in Korea on successful RBC exchange transfusion in a patient with sickle-beta-thalassemia for rapid reduction of pathologic RBCs with Hb S.
Anemia, Sickle Cell ; beta-Globins ; beta-Thalassemia ; Blood Component Removal ; Blood Transfusion ; Chromatography, Liquid ; Diptera ; Erythrocytes ; Genetic Therapy ; Hematocrit ; Hematopoietic Stem Cell Transplantation ; Hemoglobins ; Hemolysis ; Humans ; Ion Exchange ; Korea ; Male ; Thalassemia

Sickle cell disease and beta-thalassemia are caused by abnormal hemoglobin (Hb) derived from mutation of the HBB gene encoding beta-globin. Compound heterozygous status for both mutations results in Hb S/beta-thalassemia (sickle-beta-thalassemia). Vaso-occlusive phenomena and hemolysis are the clinical hallmarks and major causes of mortality. Due to the limited availability of hematopoietic stem cell transplantation with or without gene therapy, red blood cell (RBC) exchange transfusion is the first-line adjunctive therapy. Here we report on a successful reduction of Hb S level in a Tunisian male sickle-beta-thalassemia patient by RBC exchange transfusion for primary prophylactic transfusion therapy before flying to his country. Results of both Ion exchange high-performance liquid chromatography and HBB gene mutation analysis indicated sickle-beta-thalassemia. Pre-erythrocytapheresis Hb S level was 80.6% of total Hb. Two volumes of RBC exchange were performed using automated erythrocytapheresis with the COBE Spectra Apheresis System (Version 7.0, Caridian BCT, CO, USA). Post-erythrocytapheresis Hb S level was 23.4% of total Hb and hematocrit level was 32.6%, both of which met the target end points. This is the first case report in Korea on successful RBC exchange transfusion in a patient with sickle-beta-thalassemia for rapid reduction of pathologic RBCs with Hb S.
Anemia, Sickle Cell ; beta-Globins ; beta-Thalassemia ; Blood Component Removal ; Blood Transfusion ; Chromatography, Liquid ; Diptera ; Erythrocytes ; Genetic Therapy ; Hematocrit ; Hematopoietic Stem Cell Transplantation ; Hemoglobins ; Hemolysis ; Humans ; Ion Exchange ; Korea ; Male ; Thalassemia