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Updated: Aug 23, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Low-cost molecular methodology for blood group antigens identification and genotyping contribution to transfusion
Marília Gonçalves Quirino1, Quirino Alves de Lima Neto1,2, Joana Maira Valentini Zacarias1,2
1Department of Clinical Analysis and Biomedicine, Maringá State University, Maringá, Brazil.
Background:
Blood transfusions usually result in the production of alloantibodies, complicating subsequent transfusions. Many blood group systems, in addition to ABO and Rh, can lead to the production of irregular antibodies in multiple transfused patients.
Objectives:
The aim of this work was to standardize a molecular biology methodology for identified some alleles of KEL, FY, JK and DI blood group system; the transfusion efficacy of chronically transfused patients with phenotype-matched blood was also evaluated.
Methods:
A PCR-SSP was developed and validated using Sanger sequencing. The genotype and frequencies of 141 multiple transfused patients treated at blood banks of Maringá were compared with the blood donor's population to assess the availability of compatible blood bags. The clinical history of 29 patients on a phenotype-compatible transfusion regimen was followed to assess pre- and post-genotyping alloimmunization.
Results:
The PCR-SSP was effective in identifying the genotypes under study. Significant differences were observed in genotype and allele frequencies for FY and JK. Compatible bags were identified for all patients. Most patients (93.1%) did not develop new alloantibodies after erythrocyte genotyping.
Conclusion:
Erythrocyte genotyping proved to be important both in the search for positive blood bags for rare alleles and in the prevention of alloimmunization.
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