Abstract
The Mediterranean hemopathic syndromes (MHS) are the most prevalent hemoglobinopathies in the Mediterranean basin. Transfusion therapy is the main therapy for these disorders, particularly for severe forms of the disease. Currently, pre-transfusion serological typing of erythrocyte antigens is the standard tool for reducing complications of transfusion in those patients. This study compared genotyping with phenotyping of non-ABO erythrocyte antigens in patients with MHS and assessed the effect of transfusion therapy on their results. One-hundred ninety-eight MHS patients were recruited, screened, and proven negative for allo-antibodies. They were grouped into two groups: (1) 20 newly diagnosed patients with no transfusion history and (2) 178 previously diagnosed patients undergoing transfusion therapy. Patients were interviewed and clinically examined. Full blood count (FBC) and high performance liquid chromatography (HPLC) were done for group 1 only. Genotyping and phenotyping of non-ABO erythrocyte antigens were performed for group 1, and 25 patients out of group 2 were propensity score-matched (PSM) with group 1. Both groups were gender and age matched; 55% and 74% of groups 1 and 2 had major disease, respectively. Insignificant differences were observed between genotyping and phenotyping of non-ABO erythrocyte antigens in group 1, while significant discrepancies and mixed field results were noted in group 2 patients. Discrepancies were obvious with JKa, JKb, and little c antigens. Conclusively, molecular typing is a powerful tool for pre-transfusion testing in chronically transfused MHS patients. This testing reduces incidence of transfusion reactions. JKa, JKb and little c antigens are the most clinically significant non-ABO erythrocyte antigens.
Highlights
The term “Mediterranean hemopathic syndromes” was suggested by Chini and Valeri to describe β-thalassemia, a group of hemoglobinopathies
A total of 198- Mediterranean hemopathic syndromes (MHS) patients were enrolled in the study, 20-newly diagnosed and 178- old cases
Insignificant differences were noted between the two groups as regard residency, consanguinity of their parents, MHS disease subtype, transfusion dependency, splenomegaly and ABO and Rhesus phenotypes
Summary
The term “Mediterranean hemopathic syndromes” was suggested by Chini and Valeri to describe β-thalassemia, a group of hemoglobinopathies. It was found the most suitable as it describes the geographic distribution of the disorder and denotes the wide varieties of clinical presentations belonged to a single blood disorder [1, 2]. The life expectancy of MHS patients prolonged, this was in part due to the availability of safe regular erythrocyte (RBC) transfusions and effective iron chelators. Development of allo-antibodies is one of these serious complications, pre-transfusion matching for non-ABO erythrocyte antigens is recommended in transfusion dependent patients [5, 6]
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