ABSTRACT
The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia. Blood samples were collected from 108 Brazilian patients with chronic myeloid leukemia (N = 69), chronic lymphoid leukemia (N = 13), acute myeloid leukemia (N = 15), and acute lymphoid leukemia (N = 11). ABO genotyping was carried out using allele specific primer polymerase chain reaction followed by DNA sequencing. ABO*O01 was the most common allele found, followed by ABO*O22 and by ABO*A103. We identified 22 new ABO* variants in the coding region of the ABO gene in 25 individuals with leukemia (23.2%). The majority of ABO variants was detected in O alleles (15/60.0%). In 5 of 51 samples typed as blood group O (9.8%), we found non-deletional ABO*O alleles. Elucidation of the diversity of this gene in leukemia and in other diseases is important for the determination of the effect of changes in an amino acid residue on the specificity and activity of ABO glycosyltransferases and their function. In conclusion, this is the first report of a large number of patients with leukemia genotyped for ABO. The findings of this study indicate that there is a high level of recombinant activity in the ABO gene in leukemia patients, revealing new ABO variants.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged, 80 and over , Alleles , Genetic Variation , Leukemia/blood , ABO Blood-Group System/genetics , DNA , DNA Mutational Analysis , Genotype , Leukemia/classification , Polymerase Chain Reaction , Polymorphism, Genetic , ABO Blood-Group System/classificationABSTRACT
Objetivo. Comparar o consumo de hemocomponentes entre recém-nascidos (RN) de termo (RNT) e pré-termo (RNPT) e correlacionar esse consumo ao tipo de tratamento dispensado à sua patologia: clínico ou cirúrgico; acidentes hemorrágicos e sobrevida. Casuística e Metodologia. 48 Rns classificados em dois grupos: 26 RNT e 22 RNPT receberam 251 unidades de hemocomponentes: 177 unidades de concentrado de hemácias (CH), 36 de concentrado de plaquetas (CP), 30 de plasma fresco congelado (PFC) e oito de sangue total (ST), no período de 186 dias. Foi analisado o consumo de hemocomponentes em cada grupo, e na razao do número de Rns vivos por dia, até o 120 dia. Resultados. O consumo médio de hemocomponentes foi de 7,31 unidades para RNPT e 3,46 para RNT. A análise de consumo diário revelou que a maior parte ocorreu em RNs sob tratamento clínico antes do 60 dia de vida (d.v.) e que um aumento após o 86 d.v. pode ser atribuído a um aumento de cirurgias nessa fase. Os acidentes hemorrágicos predominaram em RNPT com plaquetometria inferior a 60.000/mm3. Foi constatada uma tendência inversamente proporcional entre o número de transfusoes e a sobrevida. Conclusoes. Os RNPT consumiram mais hemocomponentes que os RNT. Esse consumo estava ligado à patologia de base. Foi sugerido que a transfusao profilática de CP em RNPT poderia reduzir o número de hemorragias, além do consumo de CH nesse grupo. Mais de dez transfusoes de hemocomponentes nos primeiros 120 d.v., em ambos os grupos, parece constituir marcador de mau prognóstico.