背景:孟买表型是一种罕见的遗传性状,其特征是缺乏A,红细胞和身体分泌物中的B和H抗原。血清显示存在抗抗原H的抗体。具有这种罕见血型的患者不容易输血。我们观察到一名18岁的女性,在怀孕20周,原产于斯里兰卡,具有IgG和IgM类抗H。我们报告了病例和出现的临床问题。
方法:ABO的测定,Rh[D]组,间接抗球蛋白试验(IAT)在试管技术和中性凝胶微柱中进行。使用ID-CardLISS-Coombs微管进行抗体检测,在固相和管技术。对于分子分析,使用BigDye终止子v1.1对FUT1和FUT2基因进行测序。FUT2基因的研究是在使用Qiagen试剂盒RNase提取mRNA后进行的,然后逆转录为cDNA。
结果:通过血清学和分子分析技术证实了孟买表型。病人,与文化调解人合作,被告知她的免疫血液学状况,并向她提出了一项援助计划。不幸的是,患者没有返回下一次访问。尽管有电话提醒。在分娩过程中发生了出血,紧急输血的兼容血液请求到达了我们的输血服务。幸运的是,出血被逮捕,病人不需要输血。
结论:这个案例强调需要有效管理因迁移而越来越频繁的稀有血型。有必要组织起来,在国家领土的战略要点中,具有更好诊断能力的参考中心,并对具有罕见表型的红细胞实施冷冻,用于诊断和治疗。沟通问题在处理这一新兴现象时也很重要。
BACKGROUND: The Bombay phenotype is a rare genetic trait which is characterized by the absence of A, B and H antigens on red cells as well as in body secretions. The serum shows the presence of antibodies against antigen H. Patients with this rare blood type are not easily transfusable. We had observed a woman aged 18, at the 20th week of pregnancy, native of Sri Lanka, with an IgG and IgM class anti-H. We report the
case and the clinical issues arisen.
METHODS: The determination of ABO, Rh[D] group, the indirect antiglobulin test (IAT) were performed in tube techniques and in neutral gel microcolumn. Detection for antibodies was performed using ID-Card LISS-Coombs microtubes, in solid phase and with tube techniques. For molecular analysis, the FUT1 and FUT2 genes were sequenced using BigDye terminator v1.1. The study of FUT2 gene was performed after extraction of mRNA using Qiagen kit RNase and then reverse-transcribed into cDNA.
RESULTS: The Bombay phenotype was confirmed by serological and molecular analysis techniques. The patient, in collaboration with a cultural mediator, was informed of her immunohaematological condition and a program of assistance was proposed to her. Unfortunately the patient did not return for the next visit, despite of a telephone reminder. During childbirth a haemorrhage occurred and a request of compatible blood for an urgent transfusion arrived at our transfusion service. Fortunately, the haemorrhage was arrested and the patient didn\'t need to have any transfusions.
CONCLUSIONS: This
case emphasizes the need for an efficient management of rare blood types that are more and more frequent as a result of migration. It is necessary to organize, in strategic points of the national territory, reference centres with better diagnostic capabilities and implement freezing of red blood cells with rare phenotype for diagnostic and therapeutical use. Communication issues are as well important in dealing with this emerging phenomenon.