Identification of a rare blood group, "Bombay (Oh) phenotype," in Bhuyan tribe of Northwestern Orissa, India.

Indian J Hum Genet

Division of Human Genetics, Regional Medical Research Centre (ICMR), Opposite Kalinga Hospital, Bhubaneswar, Orissa, India.

Published: September 2007

Background: Blood group serology plays a vital role in transfusion medicine. The Bombay (Oh) phenotype is characterized by the absence of A, B, and H antigens on red cells and occurs rarely, especially in tribal populations of India.

Aims And Objectives: This is a field-based random population study in the Bhuyan tribal community. The study reports three cases of the rare Bombay (Oh) phenotype for the first time in the Bhuyan tribe of Sundargarh district in North-Western Orissa.

Materials And Methods: Taking informed consent, red blood cells of 836 Bhuyan subjects were tested with three antisera, i.e., anti-A, anti-B, and anti-H (lectin) for forward reaction. Agglutinations of plasma with A, B, and O (H) red cells (reverse reaction) were also tested for the presence or absence of antibodies in the serum. Specialized tests like absorption-elution, titration of naturally occurring antibodies at different temperatures, inhibition of anti-H by O saliva secretor, and determination of secretor status were performed.

Results: Three cases of a rare blood group, Bombay (Oh) phenotype, (2 out of 244 Khandayat Bhuyan and 1 out of 379 Paudi Bhuyan from Hemgiri and Lahunipara blocks, respectively) in the Bhuyan tribe of Sundargarh district in North-Western Orissa were detected, giving an incidence of 1 in 122 in Khandayat Bhuyan and 1 in 379 in Paudi Bhuyan, with an average of 1 in 278 among the Bhuyan tribal population. This incidence is high in comparison to earlier studies reported from India.

Conclusions: The practice of tribal and territorial endogamy in a smaller effective populations (for example, there are only 3,521 individuals in Paudi Bhuyan) results in smaller marital distance and inbreeding, leading to increased homozygous expression of rare recessive genetic characters like the Bombay (Oh) phenotype. This study further testifies that the incidence is higher in those states of India where the consanguinity is a common practice.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168136PMC
http://dx.doi.org/10.4103/0971-6866.38985DOI Listing

Publication Analysis

Top Keywords

bombay phenotype
16
blood group
12
bhuyan tribe
12
paudi bhuyan
12
bhuyan
11
rare blood
8
red cells
8
bhuyan tribal
8
three cases
8
cases rare
8

Similar Publications

There is no doubt that global warming, with its extreme heat events, is having an increasing impact on human health. Heat is not independent of ambient temperature but acts synergistically with relative humidity (RH) to increase the risk of several diseases, such as cardiovascular and pulmonary diseases. Although the skin is the organ in direct contact with the environment, it is currently unknown whether skin health is similarly affected.

View Article and Find Full Text PDF

Background: Reduced or absent H antigens on red cells with the (para-)Bombay phenotype can arise from FUT1 gene mutations, impacting the structure and function of 1,2-L-fucosyltransferase 1 (1,2-L-FucT1). Here, we identified the novel mutations in one patient displaying the para-Bombay phenotype and examined the potential molecular mechanisms underlying this phenotype.

Materials And Methods: ABH antigens and antibodies were detected in patient's blood and saliva using serological methods.

View Article and Find Full Text PDF
Article Synopsis
  • The expression of ABO (ABH) antigens on red blood cells and the secretion of ABH substances in bodily fluids are controlled by different genes, with the Secretor gene determining secretor status.
  • A study conducted on 318 blood donors in South India from Jan 2020 to Dec 2021 found that 72% were secretors while 28% were nonsecretors, revealing a clear relationship between secretor status and Lewis phenotyping.
  • The findings suggest that knowing the Lewis phenotype can help identify blood group secretor status, which is crucial for resolving discrepancies in ABO blood groups in medical settings.
View Article and Find Full Text PDF
Article Synopsis
  • Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder linked to mutations in the SEPTIN9 gene, causing episodes of severe pain and muscle atrophy, particularly affecting the brachial plexus.
  • * In a study of a large family with HNA, genetic analysis showed a mutation (NM_001113491.2:p.Arg106Trp) in the SEPTIN9 gene present in six affected members, leading to significant changes in the protein's structure and function.
  • * Despite sharing the same genetic mutation, affected family members exhibited a wide range of symptoms, suggesting that factors such as variable penetrance and epigenetic influences may contribute to this variability.
View Article and Find Full Text PDF

The perpetual release of natural/synthetic pollutants into the environment poses major risks to ecological balance and human health. Amongst these, contaminants of emerging concern (CECs) are characterized by their recent introduction/detection in various niches, thereby causing significant hazards and necessitating their removal. Pharmaceuticals, plasticizers, cyanotoxins and emerging pesticides are major groups of CECs that are highly toxic and found to occur in various compartments of the biosphere.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!