Abstract
Objectives: Accurately identifying the Antigens (Ags) on recipient red blood cells (RBCs) is critical in prevention of RBC alloimmunization in chronically transfused patients. The goal of this study was to compare RBC molecular genotyping to serological phenotyping in those patients. Methods: Serological phenotyping and molecular genotyping methods were used to study blood samples from 18 healthy blood donors and 16 transfused patients. Reticulocyte harvesting or hypotonic cell separation was added to recheck RBC phenotypes of the patients with discrepancies between phenotyping and genotyping. Results: No discrepancies were found between the two genotyping methods in all the donors and patients. 1 of 9 sickle-cell disease (SCD) patients and all 3 thalassemia patients demonstrated discrepancies in multiple blood groups between phenotyping and genotyping, which were not corrected by reticulocyte harvesting or hypotonic cell separation. Conclusions: These findings suggest that RBC molecular genotyping is superior to serological phenotyping in chronically transfused SCD or thalassemia patients.
Highlights
sickle-cell disease (SCD) is an autosomal recessive genetic blood disorder characterized by red cells which transform into abnormal, rigid, sickle shaped red red blood cells (RBCs), when they are in a hypoxic environment
In the capillary tube method the recipient’s larger and lighter reticulocytes will be present near the plasma interface after centrifugation while the heavier older RBC that are transfused will appear in the deepest layers of the red cells
The capillary tube can be snapped apart and the presumed lighter small reticulocyte layer with the plasma can be washed and the RBCs derived can be tested for red cell Ags
Summary
SCD is an autosomal recessive genetic blood disorder characterized by red cells which transform into abnormal, rigid, sickle shaped red RBCs, when they are in a hypoxic environment. Blood transfusion with normal hemoglobin A RBCs is thought to increase oxygen saturation, and reduce red blood cell sickling. Thalassemia is another inherited autosomal recessive blood disorder caused by the increased destruction of red blood cells due to defects in either the α or β chain in hemoglobin. Chronic anemia in these patients may cause extramedullary hematopoiesis, which can lead to bone deformities. These patients may need life-long RBC transfusions to ameliorate the chronic anemia and further suppress extramedullary hematopoiesis
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