BackgroundImmune thrombocytopenia is an immune disease characterized by thrombocytopenia and bleeding due to platelet antibodies against platelet membrane glycoproteins. Human platelet antigens are derived from polymorphisms of these glycoproteins. The aim of this study was to investigate human platelet antigen frequencies in immune thrombocytopenia patients from the state of Amazonas, Brazil and investigate the potential association between specific antigens and risk for immune thrombocytopenia.MethodHuman platelet antigen typing was performed by BeadChip technology to determine allelic variants of 11 systems (HPA-1 to HPA-9, HPA-11 and HPA-15). Thirty-six patients (8 male and 28 female) with a median age of 34 years (range: 9–69 years) were evaluated and compared with data from Amazonas blood donors.ResultsPlatelet counts varied from 3 to 98 × 109/L. The allele frequencies were 0.944 for HPA-1a, 0.056 for HPA-1b, 0.847 for HPA-2a, 0.153 for HPA-2b, 0.555 for HPA-3a, 0.444 for HPA-3b, 0.805 for HPA-5a, 0.222 for HPA-5b, 0.9975 for HPA-9a, 0.025 for HPA-9b, 0.486 for HPA-15a and 0.513 for HPA-15b. Among immune thrombocytopenia individuals, no b allele of the HPA-4, -6, -7, -8 and -11 were found.ConclusionsThe results suggest HPA-1a, HPA-3b and HPA-5b are immune thrombocytopenia-specific autoepitopes.
Abstract:Objective: To analyze the main etiological diagnoses of patients attended at a genetics outpatient clinic of the Association of Parents and Friends of Exceptional Children/APAE in the state of Amazonas, Brazil. Methods: retrospective study of patients seen in the period 2005-2016, with review of medical records. The following data were recorded: sex, origin of referral and etiological diagnosis. Results: 362 patients were attended, 94.7% of them from Manaus, and 5.3% from the interior of the state. The etiological diagnosis was defined in 262 (72.3%) of the sample, of which 254 (70.2%) were of genetic etiology and 8 (2.2%) non-genetic. Of the genetic etiologies, 46 (12.7%) cases were monogenic syndromes, 136 (37.6%) were chromosomal aberrations and 72 (19.9%) had multifactorial causes, however, 100 (27.6%) cases remained unclear. There were several syndromes found, with Down syndrome being the most frequent and correlating significantly with the sex of the patient (male predominance, p < 0.05). Conclusions: The study carried out in the APAE/Manaus genetics outpatient clinic allowed the profile of the patients being attended to be traced. It was verified that the majority of the patients were male and that the diagnosis of chromosomal alterations was the most frequent.
Abstract:Objective: To analyze the main etiological diagnoses of patients attended at a genetics outpatient clinic of the Association of Parents and Friends of Exceptional Children/APAE in the state of Amazonas, Brazil. Methods: retrospective study of patients seen in the period 2005-2016, with review of medical records. The following data were recorded: sex, origin of referral and etiological diagnosis. Results: 362 patients were attended, 94.7% of them from Manaus, and 5.3% from the interior of the state. The etiological diagnosis was defined in 262 (72.3%) of the sample, of which 254 (70.2%) were of genetic etiology and 8 (2.2%) non-genetic. Of the genetic etiologies, 46 (12.7%) cases were monogenic syndromes, 136 (37.6%) were chromosomal aberrations and 72 (19.9%) had multifactorial causes, however, 100 (27.6%) cases remained unclear. There were several syndromes found, with Down syndrome being the most frequent and correlating significantly with the sex of the patient (male predominance, p < 0.05). Conclusions: The study carried out in the APAE/Manaus genetics outpatient clinic allowed the profile of the patients being attended to be traced. It was verified that the majority of the patients were male and that the diagnosis of chromosomal alterations was the most frequent.
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