Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease.

摘要: Abstract Background Red cell (RBC) blood group alloimmunization remains a major problem in transfusion medicine. Patients with sickle disease (SCD) are at particularly high risk for developing alloantibodies to RBC antigens compared other multiply transfused patient populations. Hemagglutination is the classical method used test antigens, but depending on typing methods and reagents may result discrepancies that preclude interpretation based serologic reactivity alone. Molecular methods, including customized DNA microarrays, increasingly complement predicting type. The purpose of this study was determine diversity frequency RH alleles African Americans assess performance microarray allele determination. Material Two sets samples were tested: (i) individuals known variant Rh types (ii) randomly selected American donors patients SCD. Standard hemagglutination tests establish phenotype, cDNA- gDNA-based analyses (sequencing, PCR-RFLP, RHD RHCE microarrays predict genotype). Results In total 829 (1658 alleles), 72 different (40 32 RHCE) identified, 22 which novel. detected all nucleotides probed, allowing characterization over 900 alleles. Conclusions High-throughput testing platforms provide means relatively large number potentially prevent immunization by changing way antigen-negative provided patients. Because allelic found population, determination an accurate phenotype often requires testing, conjunction testing. Allele-specific offer perform high-throughput donor serve as valuable adjunct only fixed panel polymorphisms cannot haplotype phase, alternative such Next Generation Sequencing hold greatest potential accurately characterize phenotypes ameliorate clinical course multiply-transfused disease.