RESUMO
BACKGROUND AND OBJECTIVES: Gerbich (GE) blood group system carries high-frequency antigens and the absence of them leads to rare phenotypes: GE:-2,3,4, GE:-2,-3,4 and GE:-2,-3,-4. Their serological differentiation is limited and misclassification of Gerbich phenotypes may occur, but this can be avoided by molecular characterization. This study aimed to characterize the molecular background responsible for rare Gerbich phenotypes in Brazilian population. MATERIALS AND METHODS: We selected eight samples from patients with anti-Ge, six from their relatives and nine samples with normal expression of Gerbich antigens. Serological tests were performed in gel and red blood cells (RBCs) were tested with anti-Ge2 and anti-Ge3. Monocyte monolayer assay (MMA) was performed. Molecular investigation was performed with allele-specific polymerase chain reaction and DNA sequencing. RESULTS: Patient plasma samples reacted with all commercial RBCs. Patient RBCs showed negative results with anti-Ge2 and anti-Ge3. Using MMA two of eight antibodies were clinically significant. Exon 3 was not amplified in any of the patient samples and in two samples from relatives, suggesting the presence of GE*01.-03/GE*01.-03. By sequencing, we identified the genetic variability that interferes with the definition of deletion breakpoints, thus two options of genetic structure were suggested to be responsible for the GE:-2,-3,4 phenotype. CONCLUSION: This study showed for the first time the genetic diversity of GYPC alleles for carriers of Gerbich-negative phenotypes in a Brazilian population and showed an unexpected prevalence of the GE:-2,-3,4 phenotype. It also demonstrated the importance of using molecular tools to correctly classify Gerbich phenotypes for selection of variants in antigen-matched transfusions.
RESUMO
Correlacionar a disfunção da bexiga e a necessidade de assistência na marcha em indivíduos com vírus linfotrópico de células T humana tipo 1. Trata-se de um estudo analítico, observacional e transversal, realizado com 16 pacientes de ambos os sexos, diagnóstico de Paraparesia Espástica Tropical/Mielopatia Associada ao HTLV-1 (PET/MAH) definitivo, avaliados pela Escala Ponderada de Paraplegia Espástica (EPPE) e caracterizados quanto ao grau de auxílio na marcha por meio dos dispositivos utilizados durante a deambulação. Todos os achados foram codificados pela Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF); aqueles relacionados à função vesical se converteram para o componente funções do corpo e quanto ao auxílio da marcha para atividade e participação. Utilizaram-se os testes G (Aderência), Qui-quadrado e o de correlação de Spearman para análise estatística (p≤0,05). A maioria apresentou problema ligeiro para função vesical (b6202.1) e nenhuma dificuldade (d465.0) ou moderada (d465.2) para a necessidade de auxílio na marcha. Houve correlação (p=0,009) entre o auxílio na marcha e a função da bexiga. Assim, os códigos da CIF mostraram que quanto maior a dificuldade de locomoção maior é o problema na função da bexiga.
Current analytic, observational and transversal study correlates bladder dysfunction and the need for gait aid in people with human T-lymphotropic virus type 1. Investigation was undertaken with 16 patients of both genders, with a definite diagnosis for Tropical Spastic Paraparesis/Mielopathy, associated with HTLV-1 (PET/ MAH), evaluated by the Spastic Paraplegia Rating Scale (SPRS) and characterized as to help degree in gait by devices employed during walking. Finding were codified by the International Classification for Functionality, Disability and Health (ICF). Findings related to vesical function were converted into component body functions; in the case of gait aid, they were converted into activity and participation. G test (adherence), chi-square and Spearman´s correlation for statistical analysis (p≤0.05) were employed. Most patients had a slight condition for vesical function (b6202.1), with no (d465.0) or only moderate difficulty (d465.2) for gait aid. There was a correlation (p=0.009) between gait aid and bladder function. ICF codes revealed that the greatest the difficulty in locomotion, the biggest the issue in bladder function.
