Write a conclusion/summary of a case study of a rare Bombay blood group referring to the
attached scientific articles. Using a persuasive arguments to make a point about how
individuals with the Bombay phenotype are easily misdiagnosed and why as the O blood
group in cell typing and because of the presence of strong anti-H in their plasma, if they
receive blood group O red cells or any other blood group red cells except the Bombay
group, they may develop an acute hemolytic transfusion reaction
Rare Bombay Blood Group
Conclusion
The element of blood group serology remains one of the essential features in the process
of transfusion as determined in this case study that seeks to discover the Bombay (Oh)
phenotype, which is characterized by the absence of certain antigens on the red cells within a
tribal population in India (Mansoor, 2014). It is established that individuals with Bombay
phonotype receive autonomous blood from other patients with the same blood group. This is
attributed to the fact that this Blood Group is considered rear and a transfusion of it with the
blood group O red cell may result in a fetal hemolytic transfusion reaction.
The study therefore established that people bearing this blood group may not poses some
of the antigens such as A,B, and H within their blood cells, a factor that denotes that these
individuals have anti-A, Anti-B, and anti-H antibodies (Mansoor, 2014). As a result of this, the
sera of these individuals are considered as incompatible with the red blood cells. During the
grouping of cells, this blood group would be categorized as O since they fail to show reactions to
anti-A and anti-B antibodies.
Individuals with this blood phenotype are most likely to be misdiagnosed as holding the
O blood group since the existence of strong anti-H antibodies in their plasma. In any case these
individuals receive blood group O or any alternative blood group red cells other than that of the
RARE BOMBAY BLOOD GROUP 2
Bombay group, they are likely to develop hemolytic transfusion reaction (Mansoor, 2014). These
results in symptoms such as renal disseminated intravascular coagulation and a renal failure that
is primarily associated with mortality and morbidity rates among the unconscious patients.
RARE BOMBAY BLOOD GROUP 3
References
Mansoor Quli Khan (2014). Bombay Blood Group: A Case Report.
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.
*Keywords: *Blood groups, Bombay phenotype, Khandayat Bhuyan, Paudi
Bhuyan, Primitive tribe
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Introduction
The existence of a human H/h genetic polymorphism was first established
by the discovery of an individual devoid of the H antigen on red cells
in Bombay (India) who had antibodies in plasma reacting with all the red
cells exhibiting the normal red cell ABO phenotypes.[1 <#ref1>] This
phenotype was characterized by the absence of A, B, and H antigens on
red cells, and the serum of these persons had anti-A, anti-B, and
anti-H, reacting with all O group bloods. These individuals were,
therefore, genetically termed as homozygous hh or Bombay phenotype. They
were non-secretors of ABH and the majority of them were Le (a+). Watkins
and Morgan[2 <#ref2>] and Gerard /et al/.[3 <#ref3>] later elucidated
the biosynthetic pathway for ABH and Lewis (Le) antigens. Recently,
molecular genetic studies were carried out to determine role of the H,
Se, and Le genes in the expression of H antigen in secretions and Lewis
blood group antigen on erythrocytes.[4 <#ref4>,5 <#ref5>]
H-deficient Bombay phenotype is rare, since it occurs in about 1 in
10,000 individuals in India and 1 per 1,000,000 individuals in Europe.[5
<#ref5>] More recently, a large series (42 H-deficients) of H-deficient
individuals (~1:1000) were found in a small French island 800 km east of
Madagascar in the Indian Ocean, called Reunion Island.[6 <#ref6>] The
two phenotypes resulted from products, or lack of products, of two
different alleles of /FUT1/ and /FUT2/ genes;[6 <#ref6>] the same and
also additional alleles of both /FUT1/ and /FUT2/ were documented in
other populations, particularly in Japan, where the incidence of Bombay
and para-Bombay individuals was shown to be 1-2 in 300,000.[4 <#ref4>]
In Taiwan, para-Bombay phenotype has a frequency of 1:8000.[7 <#ref7>]
In India, the /FUT1/ mutation travels almost always (one exception) with
a total deletion of /FUT2/; in Reunion Island (Caucasian), the major
inactivating mutation of /FUT1/ travels almost always with the
inactivating mutation of /FUT2/; and the main Oriental inactivating
mutations of /FUT1/ travel almost always with the wild-type /FUT2/.[8
<#ref8>]
After the first report of Oh phenotype from Mumbai (formerly Bombay) in
1952 by Bhende /et al/.,[1 <#ref1>] several other workers detected this
peculiar phenotype in India[9 <#ref9>,10 <#ref10>] and also in the
European countries.[11 <#ref11>,12 <#ref12>] Later on, it was found that
many of the European cases, which were initially labeled as typical
Bombay phenotypes, turned out to be para-Bombay phenotypes after
absorption-elution studies.[13 <#ref13>–15 <#ref15>] The difficulty with
the Bombay phenotype is that the individuals having blood group of
Bombay phenotype (Oh) can either receive autologous donation or blood
from an individual of Bombay phenotype only; no other blood will match
in case of an emergency blood transfusion.
The present study, being a part of the screening for hereditary
hemolytic anemia (i.e., hemoglobinopathies and allied disorders) in the
tribal communities, was designed with the following aim and objective:
To study and identify the rare blood groups like Bombay (Oh) phenotype
detected, if any, in the Bhuyan tribe of North-Western Orissa.
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Materials and Methods
A total of 244 Khandayat Bhuyan from Ratansara village in Hemgiri Block
and 379 Paudi Bhuyan tribals from three villages, namely, Badjal,
Budhabhuin, and Kuliposh colony in Lahunipara Block of Sundargarh
district in Northwestern Orissa were screened for hemoglobin disorders
and ABO and Rh (D) blood groups during the year 2003-04. From these
villages, venous blood samples (1-2 ml in EDTA containing vials) and
saliva samples (in tubes) were collected. Members of both the genders
were included in the study and prior written informed consent was
obtained from each subject. The Human Ethical Committee of our Institute
had approved the screening and intervention for hereditary hemolytic
disorders among the major tribal communities of Sundargarh district in
Orissa. These samples were transported under ice-cold conditions to the
laboratory within 24 h of collection and were analyzed using tube
technique as per the instructions of the manufacturer of the anti-sera
(Tulip Diagnostics Private Limited, Panaji, Goa, India).
The ABH phenotyping was carried out by applying the standard forward and
reverse grouping tube techniques. The Bombay phenotype detected was
further confirmed by certain specialized tests like absorption-elution
studies, titration of naturally occurring antibodies at different
temperatures, hemagglutination-inhibition study on anti-H by O saliva
secretor, and secretor-status of the person as described by Flynn[16
<#ref16>] and Boorman and coworkers.[17 <#ref17>]
Go to: <#>
Results
Two hundred and forty-four Khandayat Bhuyans from Ratansara village in
Hemgiri Block and 379 Paudi Bhuyan tribals from Badjal and Budhabhuin
villages and Kuliposh colony in Lahunipara Block of Sundargarh district
were screened. Two unrelated women, aged 25 and 30 years, from the
former Block and a 30-year-old woman from Kuliposh Colony of the latter
Block showed no agglutination of red blood cells with anti-A, anti-B,
and anti-H antisera, but the plasma of these individuals showed the
presence of anti-A, anti-B, and anti-H antibodies, indicating the
presence of the Bombay phenotype. All the three cases were non-secretors
of ABH, i.e., Le (a+).
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Discussion
The most striking finding of the present study is the detection of three
unrelated cases of Bombay (Oh) phenotype in Paudi Bhuyan (a primitive
tribe) and Khandayat Bhuyan from Lahunipara and Hemgiri Blocks,
respectively, of Sundargarh district in North-Western Orissa, the
Central-Eastern part of India. To the best of our knowledge, except in
one study,[18 <#ref18>] no case of the Bombay phenotype has ever been
reported among the primitive tribes from the state of Orissa. The
present report deals with additional 3 cases of the rare Bombay phenotype.
The present study showed a 1 in 122 incidence of the Bombay phenotype
among Khandayat Bhuyan tribe and 1 in 379 in Paudi Bhuyan, with an
average of 1 in 278 among the Bhuyan tribal population of Orissa. Since
the population size of Paudi Bhuyan tribe is relatively small (3,521
individuals as per Paudi Bhuyan Development Agency at Khuntagaon), and
the practice of endogamy is strictly followed, inbreeding and
consanguinity amongst them is not ruled out, which may be one of the
major factors for the relatively high prevalence of recessive rare
alleles like Bombay phenotype among the Khandayat and Paudi Bhuyan
tribe. Balgir[18 <#ref18>] has reported an incidence of 1 in 33 among
the Kutia Kondh primitive tribe from Kandhamal district of Orissa.
Bhatia and Sanghvi[19 <#ref19>] calculated the incidence of this
phenotype as 1 in 13,000 individuals in Mumbai. Later on, Bhatia and
Sathe[20 <#ref20>] found an incidence of 1 in 7600 after screening a
large number of samples in Mumbai. Gorakshakar /et al/.,[21 <#ref21>]
after systematic screening of the rural population from Ratnagiri and
Sindhudurg districts of Maharashtra, reported the incidence of the
Bombay phenotype as 1 in 4500 in that region, while Moores[22 <#ref22>]
reported its incidence as 1 in 18,404 amongst Indians settled in South
Africa.
Regarding the distribution and spread of the Bombay phenotype in
different states of India, it is apparent that the phenotype is more
common in the states of Western and Southern parts of India as compared
to other states. Of the 179 cases recorded by Sathe /et al/.,[22
<#ref22>] 112 (62.6%) cases belonged to the state of Maharashtra. A
slightly higher frequency of the Bombay phenotype was also found in the
neighboring state of Karnataka (14 cases), Andhra Pradesh (8 cases), Goa
(6 cases), Gujarat (5 cases), Uttar Pradesh (5 cases), and so on in the
decreasing order. There is no published data available in literature on
the caste/tribe-wise distribution of the Bombay phenotype in India.
Moreover, most of the reported cases were either referred cases or were
hospital cases seeking blood transfusions. Hence, the exact prevalence
of the Bombay phenotype, which is based on random population screening
(not based on hospital data), is not yet precisely known in India.
Further, based on the available information in India, it is interesting
to note that the incidence of the Bombay phenotype is high in those
states of India where consanguineous marriages are more prevalent, i.e.,
Andhra Pradesh, Tamil Nadu, Karnataka, Maharashtra, Gujarat, etc. than
in the other states.
The Bombay phenotypes were also detected in Japan,[4 <#ref4>,23
<#ref23>] Malayasia,[22 <#ref22>] Thailand[24 <#ref24>] and Sri
Lanka.[25 <#ref25>] Yunis /et al/.[26 <#ref26>] found seven individuals
of Oh phenotype in two generations of an Indian family settled in the
USA. They were natives of Orissa state. Similarly, Moores[22 <#ref22>]
found 24 cases of Oh phenotypes in 11 unrelated Indian families settled
in Natal, South Africa. Most of these families were either Tamil or
Telugu speaking. Therefore, their origin is presumed to be Andhra
Pradesh or Tamil Nadu. More recently, a large series of H-deficient
individuals (~1:1000) were found in Reunion Island in the Indian
Ocean.[6 <#ref6>] This indicates that the Bombay phenotype is mostly
confined to South-East Asian countries.
It is suggested that further molecular research on the Bombay phenotype
is required, which may add to the existing variant phenotypes and
elucidate the evolutionary significance and the operation of natural
selection among the Khandayat and Paudi Bhuyan primitive tribes of
India.[29 <#ref29>]
Go to: <#>
Appendix
The Bhuyan tribe is an endogamous community, which is mostly confined to
Sundargarh district of Orissa. This is a border district, with Jharkhand
state in the North, Chhattisgarh state in the West, Keonjhar district in
the East, and Jharsuguda, Sambalpur, and Deogarh districts in the South
[Figure 1 ]
However, there are sporadic families of the Bhuyan tribe seen in Anugul,
Deogarh, Jharsuguda, and Keonjhar districts. Some of their families have
also migrated to Assam to work in the tea plantations as labor force.[27
<#ref27>–29 <#ref29>] The Bhuyan tribe, although originally of one
ethnic stock, is now divided into three social groups namely, the Hill
Bhuyan (Pahari or Paudi Bhuyan), Paraja Bhuyan (Common People), and the
Paik or Khandayat Bhuyan (Warrior), which are distinguished from each
other on the basis of three grades of primitive culture in the state of
Orissa. The Hill Bhuyan, the primitive and backward section, represents
the hunting and food gathering stage of economic life; they also
practice a rudimentary shifting cultivation and have a primitive
culture. The Paraja Bhuyan section represents a more advanced culture,
and practise plough-cultivation and food production. The Khandayat
Bhuyans have the most advanced culture, which equates them with other
nontribal populations of the region. Inter-group marriages do not take
place at all. Reproductively and genetically, they are completely
isolated from each other.
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Acknowledgments
This study was supported by a grant from the Ministry of Health and
Family Welfare, Government of India, New Delhi, through the Indian
Council of Medical Research (ICMR), New Delhi. The author is grateful to
Prof. N.K. Ganguly, Director General, ICMR, New Delhi, and Dr. S.K. Kar,
Director, Regional Medical Research Centre (ICMR), Bhubaneswar, for
providing the necessary facilities to carry out this study. The author
is grateful to the referee for going through the manuscript and making
corrections. The author thankfully acknowledges all the subjects for
their full cooperation during the collection of blood samples in the field.
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Footnotes
Source of Support: The Ministry of Health and Family Welfare,
Government of India, New Delhi,
Conflict of Interest: None declared.
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Figures and Tables
Figure 1
An external file that holds a picture, illustration, etc. Object name is
IJHG-13-109-g001.jpg
Map of Orissa showing thirty districts and study area (shaded)
*
Abstract
<#__abstractid1317449title>
*
Introduction
<#sec1-1title>
*
Materials and Methods
<#sec1-2title>
*
Results
<#sec1-3title>
*
Discussion
<#sec1-4title>
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Appendix
<#sec1-5title>
*
Acknowledgments