RESUMO
BACKGROUND: KELnull (K0) persons can produce clinically significant anti-KEL5 antibody after transfusion and/or pregnancy, requiring K0 blood transfusion when indicated. 37 K0 alleles have been reported in studies over different populations, but none in Amerindian-Caucasian descendants from South America. The aim of this study was to identify the molecular basis of K0 phenotype in Brazilians. METHODS: We investigated three K0 samples from different Brazilian blood banks (Recife, Manaus, and Vila Velha) in women with anti-KEL5. KEL antigen typing was performed by serologic techniques, and the K0 status was confirmed by flow cytometry. PCR-RFLP and DNA sequencing of the KEL coding and exon-intron regions were also performed. RESULTS: RBCs of the 3 patients were phenotyped as KEL:-1,-2,-3,-4,-7. The 3 patients had the same KEL*02/02 genotype and were negative for KEL*02.03 and KEL*02.06 alleles. The Recife K0 patient was homozygous for IVS16 + 1g>a mutation (KEL*02N.31 allele). The flow cytometry with anti-KEL1, anti-KEL2, anti-KEL3, anti-KEL4, and anti-CD238 confirmed the K0 phenotype. In addition, we found the c.10423C>T mutation (KEL*02N.04 allele) in both the Manaus K0 and the Vila Velha K0 patients. CONCLUSION: This report represents the first study of K0 molecular basis performed in Amerindian-Caucasian descendants from South America.
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We report on a rare case of multiple myeloma with atypically large cells containing a great amount of azurophilic inclusions usually seen in storage diseases.
Assuntos
Plasmócitos , Medula Óssea , Mieloma MúltiploRESUMO
We report on a rare case of multiple myeloma with atypically large cells containing a great amount of azurophilic inclusions usually seen in storage diseases.
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Anti-KEL7 (anti-Js(b)) is a rare antibody that has been related to haemolytic transfusion reactions and HDN. We report a case of anti-KEL7 alloimmunization detected in a pregnant woman who had an obstetric previous history of four miscarriages and one stillborn. Employing classical immunohematological techniques, we studied the propositus and her available relatives. Due to the unavailability of commercial anti-KEL6 and anti-KEL7 reagents, we used a KEL*6,7 genotyping method as an alternative tool to contribute with the identification of the alloantibody origin. The results of KEL genotyping showed that the propositus was KEL*6/6 homozygous, while her second partner was KEL*7/7 homozygous.
Assuntos
Incompatibilidade de Grupos Sanguíneos/genética , Morte Fetal/genética , Isoanticorpos/sangue , Sistema do Grupo Sanguíneo de Kell/genética , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/imunologia , Adulto , Incompatibilidade de Grupos Sanguíneos/diagnóstico , Incompatibilidade de Grupos Sanguíneos/imunologia , Pré-Escolar , Eritrócitos/imunologia , Feminino , Genótipo , Homozigoto , Humanos , Recém-Nascido , Isoanticorpos/genética , Sistema do Grupo Sanguíneo de Kell/imunologia , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase/métodos , Gravidez , Complicações na Gravidez/genética , Gravidez de Alto Risco/imunologia , Reação TransfusionalRESUMO
The frequency of viral markers for hepatitis B (HBV) and C (HCV), human immunodeficiency virus-1 (HIV-1) and human T-lymphotropic virus-1 (HTLV-1) was evaluated in 32 Brazilian beta-thalassemia multitransfused patients. Additionally the serum concentrations of ferritin and alanine aspartate transaminase (ALAT) were determined. The results show a high prevalence of markers of infection by HBV (25.0) and HCV (46.8) and a low prevalence of markers for HIV-1 and HTLV-1. No correlations were demonstrated between the presence of the hepatitis markers and the number of units transfused or the serum concentrations of ferritin and ALAT.
