Background and Objectives The Bombay phenotype cases do not express the ABH antigens on red blood cells and in body secretions because of the inactivation of H (FUT1) gene and Secretor (FUT2) genes. This rare phenotype was first detected in Mumbai, India, previously known as ‘Bombay’. The presence of T725G mutation in FUT1 gene and deletion of FUT2 gene, both in homozygous condition, has been found to be the cause of Bombay phenotype in individuals originating from India. Thus, the objective of this study was micromapping of all the cases of Bombay phenotype identified at our Institute during the last 60 years and molecular analysis of FUT1 and FUT2 genes in a large number of Bombay phenotype cases. Material and Methods Bombay phenotype cases were confirmed by conventional serological techniques. FUT1 gene in 89 cases was screened for T725G alteration by PCR–RFLP. Deletions in FUT2 gene were detected by specific pairs of primers. Similarly, FUT1 and FUT2 genes were sequenced in all control samples. Results In the present series, 74·2% Bombay phenotype cases were originating from Maharashtra state. T725G was found to be the only mutation in homozygous condition in FUT1 gene in all cases of Bombay phenotype. Similarly, they were homozygous for 10‐kb deletion covering entire FUT2 gene. Conclusion All the cases of Bombay phenotype reported in this study, originating from different states of India, showed only T725G alteration in FUT1 gene and 10‐kb deletion covering entire FUT2 gene suggesting the unicentric origin of this rare phenotype in India.
Background:ABO blood group iso-antibodies are naturally occurring antibodies found in serum and other body fluids.Methods:Serum, saliva and milk samples from 5 mothers identified as “Bombay” phenotype were tested for ABH-iso-antibodies by routine serological techniques.Results:All the five mothers showed presence of iso-antibodies in the samples tested. Higher titer values in milk than their serum were observed on subjects whose samples were collected in immediate post-partum phase as compared to those whose samples were collected after a lapse of a few months.Conclusion:High titer iso-agglutinins against ABH antigens were detected in milk samples besides their presence in saliva as well as serum.
Aim A lady of 30 years was referred to our Institute for investigations who had an obstetric history of one living child, followed by one still birth and then a termination of pregnancy due to suspected fetal ascitis. Method Blood grouping and Rh genotyping was done by us by standard serological procedures and patient’s serum was investigated for atypical antibodies by panel of cells. Fourteen family members were investigated for ABO grouping and Rh genotyping. Result Patient’s blood group was identified as O Rh Positive showing a rare Rh genotype D‐‐ with presence of only D antigen and absence of C, c, E and e antigens. Confirmation of this was done by absorption of patient’s red cells with anti‐C, anti‐c, anti‐E and anti ‐e antisera and testing the eluate reactivity for presence of the respective antigens. Patient’s serum reacted with all panel red cells of the common Rh genotypes and the antibody is anti – Hro which is the most potent antibody a D‐‐ individual produces. Amongst the family members of the propositus, seven probable heterozygote D‐‐ individuals were identified by testing with incomplete anti ‐D by saline technique. Conclusion The patient had a rare Rh genotype D‐‐/D‐‐ and had produced anti – Hro antibody due to fetomaternal leak during pregnancies and this must have been responsible for the fetal loss. No other family member exhibited this rare Rh genotype in homozygous form.
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