Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors

Autor(es)

Gaspardi, Ane C. ; Sippert, Emilia A. ; de Macedo, Mayra Dorigan ; Pellegrino, Jr., Jordao ; Costa, Fernando F. ; Castilho, Lilian

• Tipo de documento: Artigo Científico
• Fonte: BLOOD TRANSFUSION; v. 14, n. 5, p. 449-454, 2016.
• Citações Web of Science: 3

Resumo

Background. As a consequence of the homology and opposite orientation of RHD and RHCE, numerous gene rearrangements have occurred in Africans and resulted in altered RH alleles that predict partial antigens, contributing to the high rate of Rh alloimmunisation among patients with sickle cell disease (SCD). In this study, we characterised variant RH alleles encoding partial antigens and/or lacking high prevalence antigens in patients with SCD and in African Brazilian donors, in order to support antigen-matched blood for transfusion. Material and methods. RH genotypes were determined in 168 DNA samples from SCD patients and 280 DNA samples from African Brazilian donors. Laboratory developed tests, RHD BeadChip(TM), RHCE BeadChip(TM), cloning and sequencing were used to determine RHD-CE genotypes among patients and African Brazilian blood donors. Results. The distributions of RHD and RHCE alleles in donors and patients were similar. We found RHCE variant alleles inherited with altered RHD alleles in 25 out of 168 patients (15%) and in 22 out of 280 (7.8%) African Brazilian donors. The RHD and RHCE allele combinations found in the population studied were: RHD{*}DAR with RHCE{*}ceAR;RHD{*}weak D type 4.2.2 with RHCE{*}ceAR,RHD{*}weak D type 4.0 with RHCE{*}ceVS.01 and RHCE{*}ceVS.02; RHD{*}DIIIa with RHCE{*}ceVS.02. Thirteen patients and six donors had RHD-CE genotypes with homozygous or compound heterozygous alleles predicting partial antigens and/or lacking high prevalence antigens. Eleven patients were alloimmunised to Rh antigens. For six patients with RHD-CE genotypes predicting partial antigens, no donors with similar genotypes were found. Discussion. Knowledge of the distribution and prevalence of RH alleles in patients with SCD and donors of African origin may be important for implementing a programme for RH genotype matching in SCD patients with RH variant alleles and clinically significant Rh antibodies. (AU)

• Processo FAPESP: 15/07559-9 - Análise de polimorfismos genéticos associados com aloimunização eritrocitária e desenvolvimento de painéis de referência para genotipagem de variantes Rh: impacto na segurança transfusional de pacientes com doença falciforme
• Beneficiário: Lilian Maria de Castilho
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 14/00984-3 - Doenças dos glóbulos vermelhos: fisiopatologia e novas abordagens terapêuticas
• Beneficiário: Fernando Ferreira Costa
• Modalidade de apoio: Auxílio à Pesquisa - Temático