Red blood cell antigen genotyping for haemoglobinopathies: considerations for thalassaemia and sickle cell disease

There are 36 blood group systems and over 300 blood group antigens. Genetic characterization of blood group antigens has demonstrated significant diversity among populations. DNA‐based red cell typing methods can offer a cost‐effective means to determine red cell antigen profiles of both patients and donors. For patients with thalassaemia and sickle‐cell disease, red cell alloimmunization remains a significant problem, particularly those who require chronic transfusion therapy. These patients often benefit from molecular red cell antigen typing to facilitate complex antibody evaluations and guide donor red cell selection. DNA‐based red cell typing can also be used to determine red cell antigen phenotypes in patients recently transfused or with interfering allo‐ or autoantibodies, to resolve discrepant serologic typing, and/or when typing antisera are not readily available. High‐resolution RH genotyping can identify variant RHD and RHCE alleles that have been associated with alloimmunization in patients with sickle‐cell disease and less commonly, thalassaemia. In the future, broader access to cost‐efficient, high‐resolution red cell genotyping technology for both patient and donor populations may be transformative for the field of transfusion medicine.

Source: ISBT Science Series - February 2, 2018 Category: Hematology Authors: S. T. Chou Tags: Congress Review Source Type: research