Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196594
Type: Artigo de periódico
Title: High Frequency Of Partial Diiia And Dar Alleles Found In Sickle Cell Disease Patients Suggests Increased Risk Of Alloimmunization To Rhd.
Author: Castilho, L
Rios, M
Rodrigues, A
Pellegrino, J
Saad, S T O
Costa, F F
Abstract: We have set out to determine the frequency of DIIIa and DAR alleles among sickle cell disease (SCD) patients. These D variants permit the unexpected development of antibodies to RhD among individuals who are otherwise classified as RhD+. DNA samples from 130 SCD patients were tested for 455A>C (specific for DIIIa), 602C>G, 667T>G (common for both DIIIa and DAR) and 1025T>C (specific for DAR) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequence analysis. The PCR-RFLP showed that 12 (9.2%) of the SCD patients were carrying DIIIa and DAR alleles. Genomic DNA analysis performed by sequence showed that three samples were heterozygous DIIIa (2.3%), seven heterozygous DAR (4.6%) and two (1.5%) samples carried a partial D with four mutations: 455A>C (heterozygous), 602C>G and 667T>G (homozygous) and 1025T>C (heterozygous), indicating compound heterozygosity for one DIIIa allele and one DAR allele. The predicted phenotypes of eight (6.2%) SCD patients were DIIIa, DAR and DIIIa/DAR. Three patients were anti-D immunized (DAR, n = 1; DIIIa/DAR, n = 2). These findings suggest that SCD patients who are candidates for chronic transfusion may benefit from genotyping for DIIIa and DAR to prevent alloimmunization.
Subject: Alleles
Anemia, Sickle Cell
Blood Transfusion
Diabetes Mellitus, Type 1
Gene Frequency
Humans
Immunization
Rh-hr Blood-group System
Risk Factors
Rights: fechado
Identifier DOI: 10.1111/j.1365-3148.2005.00548.x
Address: http://www.ncbi.nlm.nih.gov/pubmed/15713129
Date Issue: 2005
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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