Erythrocyte phenotype in a pregnant woman of Sri Lanka. Description of the case and complications related to communication problems

Abstract

Background. TheBombay 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 ofSri Lanka, with an IgG and IgM class anti-H. We report the case and the clinical issues arisen. Materials and 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. TheBombay 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. Discussion. 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.