A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A

<b><i>Background:</i></b> Here we report a case of para-Bombay phenotype due to a novel mutation <i>FUT1</i> c.361G&#x3e;A p.(Ala121Thr) and a nonfunctional allele <i>FUT1</i>*<i>01N.13</i>(c.881_882delTT) which showed a discrepancy in the routine ABO blood group typing. <b><i>Materials and Methods:</i></b> The ABO phenotype and the Lewis blood group were typed with serological methods. The ABH antigens in saliva were determined by a hemagglutination inhibition test. The CDS region of <i>ABO, FUT1</i>and <i>FUT2</i> were amplified with polymerase chain reaction and then directly sequenced. The novel mutation was confirmed by cloning and sequencing. Three-dimensional (3-D) structural analysis of the mutant and wild-type Fut1 were performed by the Chimera software. <b><i>Results:</i></b> A, B and H antigens were not detected on the surface of red blood cells (RBCs) by the serological technique, and the B and H blood group substances were detected in the saliva, while the Lewis phenotype was Le(a–b+). Sequencing and cloning analysis showed the presence of a novel <i>FUT1</i> mutation c.361G&#x3e;A and a nonfunctional allele <i>FUT1</i>*<i>01N.13</i>(c.881_882delTT). The ABO genotype was <i>ABO</i>*<i>B.01/ABO</i>*<i>O.01.01</i>. The in silico analysis showed that the mutation p.(Ala121Thr) of <i>FUT1</i>did not change the 3-D structure of the whole enzyme but caused a certain amplitude of turnover in the loop region where Ala121 was located. <b><i>Conclusions:</i></b> A novel <i>FUT1</i> allele (<i>FUT1</i>*c.361G&#x3e;A) was identified in a Chinese individual with para-Bombay B phenotype. The <i>FUT1</i>c.361G&#x3e;A mutation may significantly downregulate the expression of H antigens on RBCs by damaging the enzyme conformation.

ELISA METHOD TO DETECT ABO BLOOD GROUP IN EXTERNAL SECRETION FLUIDS

Background: Usually it takes a large number of volume sample to determine blood group from external secretion fluids. But, in certain condition, samples are only available in very small amount. The objective of this study is to detect the presence of ABO blood group substances in mucosal fluid using ELISA technique, thus only requires small amount of samples.Objective: To develop an ELISA technique using the current anti-ABO antibodies for determination of blood group by hemagglutination technique and second peroxidase label antibody specific for mouse IgG, originally used for another ELISA technique.Methods: 100 μl of diluted human intestinal mucosal fluid were incubated overnight in 4oC in ELISA microplate wells, followed by addition anti-ABO antibodies. Then after incubation, a second revealing antibody anti mouse IgG labeled with peroxidase was added. After a brief incubation, substrate H2O2 and chromogenic TMB were added.Results: Positive reaction is marked by development of blue colour, which, on termination enzymatic reaction by addition 100 μl H2SO4 change to yellow.Conclusion: An ELISA method for detecting ABO substance in mucosal fluid can be developed from antibodies not specifically made for this technique, but specific only for the target.

Association between Non-secretion of ABH Antigens and Sickle Cell Anaemia

Aim: To determine whether non-secretion of ABH blood group antigens was associated with Sickle Cell Anaemia. Materials and Methods: Haemaglutination inhibition test was carried out on saliva samples from 300 individuals; 100 of whom had haemoglobin (Hb) genotype AA, 100 HbAS, 50 HbAC and 50 HbSS. ABO blood grouping was carried out by standard methods and Haemoglobin genotype test was performed by cellulose acetate electrophoresis technique. Results: Eighteen percent (18%) of HbAA, 23% of HbAS, 18% of HbAC and 42% of HbSS individuals were non-secretors of ABH antigens (p = 0.007). Non-secretion of ABH substances was more associated with HbSS persons than HbAA (p = 0.002), HbAS (p = 0.016) and HbAC (p = 0.009) individuals. Conclusion: Non-secretion of ABH blood group substances is associated with Sickle Cell Anaemia.

Glycans and glycosaminoglycans in neurobiology: key regulators of neuronal cell function and fate

The aim of the present study was to examine the roles of l-fucose and the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin sulfate/dermatan sulfate (CS/DS) with selected functional molecules in neural tissues. Cell surface glycans and GAGs have evolved over millions of years to become cellular mediators which regulate fundamental aspects of cellular survival. The glycocalyx, which surrounds all cells, actuates responses to growth factors, cytokines and morphogens at the cellular boundary, silencing or activating downstream signaling pathways and gene expression. In this review, we have focused on interactions mediated by l-fucose, KS and CS/DS in the central and peripheral nervous systems. Fucose makes critical contributions in the area of molecular recognition and information transfer in the blood group substances, cytotoxic immunoglobulins, cell fate-mediated Notch-1 interactions, regulation of selectin-mediated neutrophil extravasation in innate immunity and CD-34-mediated new blood vessel development, and the targeting of neuroprogenitor cells to damaged neural tissue. Fucosylated glycoproteins regulate delivery of synaptic neurotransmitters and neural function. Neural KS proteoglycans (PGs) were examined in terms of cellular regulation and their interactive properties with neuroregulatory molecules. The paradoxical properties of CS/DS isomers decorating matrix and transmembrane PGs and the positive and negative regulatory cues they provide to neurons are also discussed.

A Young Female with Difficulty in Blood Group Determination

Cold agglutinin disease (CAD) usually develops as a result of the production of a specific immunoglobulin M auto-antibody directed against the I/i and H antigens, precursors of the ABH and Lewis blood group substances, on red blood cells. Where most of the cases of cold agglutination disease usually present with features of hemolysis, acrocyanosis, respiratory symptoms or fatigue due to anemia, here we report an interesting case of CAD with unusual presentation.This 26 years female came with fever for 10 days,jaundice for two months and failure in blood group determination for blood transfusion for her anemia.The physical examination showed severe pallor, jaundice, hepatosplenomegaly and fundoscopic examination revealed Roth spots, hemorrhages and bilateral papilloedema with otherwise normal neurological examination.Complete blood count revealed severe anemia, spuriously raised MCV and MCHC with raised ESR. Peripheral blood film features were suggestive of autoimmune hemolytic anemia (Cold agglutinin disease). MRI of brain was normal. It further indicates the various manifestation of disease as in here presenting as papilloedema in patients with cold agglutination diseaseJ MEDICINE January 2017; 18 (1) : 39-41

The prevalence of secretor status and co-expression of lewis antigen in voluntary blood donors

Background: Blood group substances are present in soluble form in a majority of individuals in secretion such as saliva and body fl uids. Secretor status refers to the presence (SeSe and Sese) or absence (sese) of secretor gene which secrete ABH soluble substances. Secretor status can be used to resolve ABO discrepancies of people whose blood group cannot be identified by routine blood grouping and it can also help in identifying patients who may be a high risk group for getting certain diseases. Aims and Objectives:Our aim and objectives of the study is to fi nd out the Prevalence of Secretor Status and Co-expression of Lewis Antigens among the Voluntary Blood Donors.Materials and Methods:This study was conducted in sixty volunteers and the method used to determine the secretor status was hemagglutination inhibition method. Their blood was used to detect the type of Lewis (Le) antigen since the type of Lewis antigen correlated with the secretor status of the individual.Results:Among the sixty subjects tested, forty fi ve of them were found to be secretors and fifteen of them were Non-secretors. The number of Lewis (a+b-) individuals were twelve, Lewis (a-b+) were thirty nine and Lewis (a-b-) were nine.Conclusion:The prevalence of secretors was 75% and non-secretors were 25% respectively. We found 65 % of the volunteers were found to be Le (a-b+) positive, 20% were Le (a+b-) and the remaining 15% were Le (a-b-) which correlated with the ABH antigen secretor status.Asian Journal of Medical Sciences Vol.7(5) 2016 93-96

Determination of serological markers (blood group markers) of biological fluid (urine) obtained from crime scene for individualization of the donor(s).

Urine samples collected from 20 donors with unknown blood group and secretor status had been determined from saliva. ABO typing on the concentrated samples was successfully performed after 1 month of storage. Urine stained clothing samples are often submitted to forensic science laboratories for ABH blood group antigen determination. The serogenetic markers of urine stains submitted can be used to determine the origin of any of these samples. ABH blood group substances have previously been identified from urine. ABH blood group substance is low in urine in comparison with other body fluids