Blood Group Phenotype Research Articles

A rare case of Anti-Jk3 Alloimmunization

Abstract Introduction/Objective The Kidd blood group system was discovered in 1951 and consists of two antithetical antigens, Jka and Jkb, in addition to a third high-incidence antigen, Jk3. Jk null, also known as Jk(a-b-), is an extremely rare blood group in which all Kidd antigens are absent. Jk is a urea transporter found in the renal medulla, and Jk-deficient individuals are unable to concentrate urine to its maximum concentration. If these individuals are exposed to the Jk antigen via transfusion or pregnancy, they are able to produce antibodies against the Jk3 antigen with a high incidence. Jk3 is expressed in over 99.9% of the blood donor pool, which has severe clinical implications and complicates transfusion. Methods/Case Report CASE PRESENTATION: A 68-year-old male was admitted to the Stanford Medical Center with chronic right midshaft tibia osteomyelitis and a sinus drainage tract for a right tibial diaphysectomy. His test for antibodies was positive. Plasma from the patient is reactive with all tested cells except auto control, AHG in PEG, and solid phase. Phenotyping yielded negative results for Jka and Jkb, suggesting that the antibody is Jk3. Anti-Jk3 was eliminated by adsorption and rendered nonreactive. Results (if a Case Study enter NA) NA Conclusion Anti-Jk3 should be suspected in a previously pregnant or transfused patient during antibody screening and identification if it demonstrates the pattern of an antibody reacting to all cells in the panel, i.e., reacting to a high- frequency antigen with negative autocontrol. Awareness on the part of blood bank personnel regarding the variability of the blood group phenotype and the capricious nature of Kidd antibodies may aid in the improved management of these patients. It is recommended that patients with rare antibodies carry an antibody ID card indicating the rare antibody they have to prevent further exposure. A patient may be advised to undergo an autologous transfusion. Fortunately, the patient’s procedures were uncomplicated, so a blood transfusion was unnecessary. Awareness on the part of blood bank staff regarding the variability of the blood group phenotype and the unpredictability of Anti-Jk3 may aid in improving patient care. To prevent further exposure, it is recommended that patients with rare antibodies carry an Antibody ID card indicating the rare antibody they possess.Jk3 antigen blood donors are underrepresented in the general donor pool. It is recommended to develop a systematic recruitment for Jk3 antigen donors.

A cross-sectional pilot study to estimate the frequency of minor blood group alleles and phenotypes in RhD-negative North Indian blood donors by DNA microarray analysis

Abstract: INTRODUCTION: There are scarce data on Indian blood donors with respect to blood group phenotypes using molecular diagnostic modalities. Hence, we planned to estimate frequencies of blood group alleles/phenotypes using DNA microarray analysis in the north Indian RhD-negative blood donor population. With this initial pilot study, we plan to expand it to our entire donor population. METHODOLOGY: The cross-sectional prospective study was conducted on 50 Indian blood donors (O RhD negative), to study the blood group genotype frequency. Genotyping for the most relevant red blood cell antigens (Rh, Kell, Duffy, Kidd, MNS, Lutheran, and Dombrock) was done using Bioarray Precise TypeHM Human Erythrocyte Antigen BeadChip kit containing probes directed to polymorphic sites. RESULTS: In the Rh system, the most common alleles were RHCE*e/RHCE*e (98%) and RHCE*c/RHCE*c (80%). Phenotype K-k+ (genotype- KEL*02/KEL*02) was seen in 98% of samples, Js(a-b+) (KEL*02.07/KEL*02.07) was detected in 98% (49/50) of the samples tested. Jk(a + b+) (JK*01/JK*02) was the most common phenotype (48%) in the Kidd blood group system. In MNSs system, M+N+ (GYPA*01/GYPA*02) 44% and S+s+U+ (GYPB*03/GYPB*04) 34% were the most common phenotypes detected. CONCLUSION: This pilot study shows the feasibility of genotyping a Northern Indian donor population. To the best of our knowledge, it is the first study on molecular blood grouping in Indian blood donors using the Bioarray platform.

AB0 Blood Group Phenotypes and Rhesus Factor in The Pathogenesis of Gestational Diabetes Mellitus

Objective: Some AB0 blood group phenotypes may be considered as risk factors in the pathogenesis of both type II diabetes mellitus (DM) and type I DM. The aim of this research was to investigate whether there is a relation between AB0 blood group phenotypes and Rhesus (Rh) factor and the occurrence of the disease in pregnant female diagnosed with gestational diabetes mellitus (GDM). Method: This research was case-control research, and the data were analyzed retrospectively. Pregnant women who were admitted to a research and teaching hospital for one year and underwent a 75 gram oral glucose tolerance test (OGTT) were included in the research. Pregnant females diagnosed with GDM according to OGTT results were separated into two groups as case group and healthy pregnant females as control group. Result: The prevalence of GDM was found to be 15.94% in a one-year data review. The mean age of pregnant females with GDM was higher than healthy pregnant females (p0.05). Rh factor positivity of both groups was not different (p>0.05). Conclusion: In conclusion, no association was found between the pathogenesis of GDM and AB0 blood group phenotypes and Rh factor.

Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype

The genetic background of the high prevalence red blood cell antigen AnWj has remained unresolved since its identification in 1972, despite reported associations with both CD44 and Smyd1 histone methyltransferase. Development of anti-AnWj, which may be clinically significant, is usually due to transient suppression of antigen expression, but a small number of individuals with persistent, autosomally-recessive inherited AnWj-negative phenotype have been reported. Whole exome sequencing of individuals with the rare inherited AnWj-negative phenotype revealed no shared mutations in CD44H or SMYD1, but instead we discovered homozygosity for the same large exonic deletion in MAL, which was confirmed in additional unrelated AnWj-negative individuals. MAL encodes an integral multi-pass membrane proteolipid, Myelin and Lymphocyte protein (Mal), which has been reported to have essential roles in cell transport and membrane stability. AnWj-positive individuals were shown to express full-length Mal on their red cell membranes, which was not present on the membranes of AnWj-negative individuals, whether of an inherited or suppression background. Furthermore, binding of anti-AnWj was able to inhibit binding of anti-Mal to AnWj-positive red cells, demonstrating the antibodies bind to the same molecule. Over-expression of Mal in an erythroid cell-line resulted in expression of AnWj antigen, regardless of the presence or absence of CD44, demonstrating that Mal is both necessary and sufficient for AnWj expression. Our data resolve the genetic background of the inherited AnWj-negative phenotype, forming the basis of a new blood group system, further reducing the number of remaining unsolved blood group antigens.

Analysis of The Results of The Rhesus System Blood Group Phenotyping Examination in Routine Type O Blood Donors

The Rhesus (Rh) system is the second most important blood group system after ABO, has the highest immunogenicity and tends to produce alloantibodies that cause most transfusion reactions. In the Rh blood group system, there are more than 55 antigens, but the main ones are D, C, E, c, and e. Currently, only the D antigen is carried out without examining four other important Rh antigens. Still scarce, studies on the proportion of Rh antigens, except D, in Indonesia; in this study we have determined Rh antigens and phenotypes among a population of routine blood donors. The purpose of this study was to determine the phenotypic variation and frequency distribution of the main antigens of the Rhesus blood group system in routine blood type O blood donors at UDD PMI Depok City. This study was descriptive and observational with a cross-sectional design. Primary data are obtained from the Rhesus system antigen examination results on donor blood samples. The sample was 140 blood samples from 140 routine donors. A rhesus phenotyping examination was carried out using the gel method. The study was conducted on 140 routine donor blood samples at UDD PMI Depok City. The characteristics of the subjects were male (69.29%) and female (30.71%), with an average age of 38 years. Samples are analyzed for five major Rhesus antigens. Rhesus antigen test shows D antigen (100%), e antigen (97.14%), C antigen (95.71%), c antigen (36.43%) and E antigen (27.86%). Rhesus phenotype results were R1R1 (DCe/Dce) (62.86%), R1R2 (DCe/DcE) (22.86%), R1r (DCe/dce) (9.29%), R2R2 (DcE/DcE) (2.86%), R2r (DcE/dce) (1.43%), and R1RZ (DCe/DCE) (0.71%). In conclusion, the frequency of phenotypic changes in the Rh blood group system of regular blood donors at UDD PMI Depok City is classified as the most common types: DCe/DCe, DCe/DcE, DCe/dce, DcE/DcE, DcE/dce and DCe/DCE.

Incidence of acute transfusion reactions and associated factors among adult blood-transfused patients at Jimma University Medical Center, southwest Ethiopia: A cross-sectional study.

Acute transfusion reaction is mainly related to the infusion of blood or blood products resulting at any time within a day of the intervention. It ranges from a non-specific febrile episode to a life-threatening intravascular hemolysis. The severity of the reaction and the degree of morbidity are usually related to the degree of ABO incompatibility and the volume of blood transfused. Therefore, this study aimed to determine the incidence of acute transfusion reactions and its associated factors in Jimma University Medical Center, southwest Ethiopia. Institution-based cross-sectional study was conducted from 1 October to December 30, 2020. A total of 384 transfused patients were followed in this study. Socio-demographic and clinical data were collected through a structured questionnaire. Baseline measurement and 24-hour periodic vital signs monitoring were conducted after each transfusion. Four milliliters of venous blood were drawn after transfusion intervention from each distrusted patient for complete blood count, blood group phenotype, direct antihuman globulin test (DAT), and crossmatching. Data were entered into Epi data version 3.1 and analyzed using Statistical Package for Social Science software (SPSS) version 20. Descriptive statistics, and bivariable and multivariable logistic regression were employed to test the association between independent and dependent variables. A P value ≤ .05 was considered to indicate statistical significance. Acute transfusion reactions were diagnosed in 5.7% of patients, with most of these reactions were febrile nonhemolytic reactions (63.6%) followed by allergic (36.4%) reactions with mild clinical manifestations (27.3%). Transfusion history, transfused blood that was kept for more than 13 days, abortion history, and number of transfused units (≥3 units of blood/blood component) have 3.3, 3.85, 4.2, and 3.9 times greater odds, respectively, besides their significant association with the incidence of acute transfusion reactions. Patients with a history of previous transfusion, abortion, multi-unit transfusion, and patients transfused with blood stored for ≥14 days should be closely monitored. Starting a hemovigilance system of monitoring, collecting, and evaluating data on adverse effects of blood transfusion locally and nationally will decrease the occurrence of acute transfusion reactions.

ACKR1 gene polymorphisms in Bombay blood group (Oh) individuals of Indian origin

BackgroundACKR1 blood group genes exhibit a high degree of polymorphisms with varying allele distribution seen among different populations and ethnic groups. The study aimed to genotype ACKR1 antigens and to establish FY allele frequency among the individuals with the Bombay (Oh) blood group phenotype. Materials and methodsACKR1 phenotype and genotype frequencies were estimated on 160 individuals typed as Oh and were compared with 100 non-oh blood donors from Mumbai, India by molecularly genotyping via PCR-RFLP. ResultsThe allelic and genotypic frequency of T(−67)C polymorphism showed the dominance of T allele and TT genotype [OR= 3.26 (0.59–17.99)] in both the study groups. The ACKR1 null (Fya-b-) phenotype was not found in the tested group. While the genotypic combination among the Oh group individuals was FYA/FYB (45.3 %), FYA/FYA (42.7 %), and FYB/FYB (12 %), in the non-Oh group donors, it was observed as FYA/FYB (53.3 %), FYA/FYA (39.1 %), and FYB/FYB (7.6 %).The haplotype TGGGC occurred in 38.4 % of the Oh group, but in non-Oh donors, it was found to be 50.9 % [OR = 1.820 (1.196–2.771)], and the difference was statistically significant (p = 0.005). Similarly, the TGGGT haplotype was found at a frequency of 12.7 % in non-Oh donors and 27.1 % in Oh group [OR= 0.411 (0.234–0.722)] (p = 0.001). ConclusionsThis study shows the prevalence of ACKR1 gene polymorphisms, including weak ACKR1 antigens in Oh individuals with a high frequency of haplotype TGGGC. The present study demonstrated for the first time the genotypes FyBweak, FyAweak and Fy Aweak/FyBESon RBC membranes in Indian subjects with Oh phenotype.

ABO Blood Type and Urinary Bladder Cancer: Phenotype, Genotype, Allelic Association with a Clinical or Histological Stage and Recurrence Rate.

Background Previous research on connection between the ABO blood group and bladder cancer has been based on determining the ABO phenotype. This specific research is extended to the molecular level, providing more information about particular ABO alleles. Aim To investigate the impact of the ABO blood group genotype or phenotype as a risk factor for urinary bladder cancer. Materials and Methods In the case-control study, we included 74 patients who underwent surgery for a urinary bladder tumor at the Urology Clinic, Clinical Hospital Centre Zagreb, in 2021 and 2022. The control group comprised 142 asymptomatic and healthy blood donors. ABO genotyping to five basic alleles was done using a polymerase chain reaction with sequence-specific primers. We compared ABO phenotypes, genotypes, and alleles between patients and the healthy controls and investigated their distribution according to the clinical and histological stage and recurrence rate. Results No statistically significant difference was found among the groups, nor for the observed disease stages in terms of the phenotype and genotype. At the allele level, the results show a significantly lower proportion of malignancy in O1 ( p < 0.001), A1 ( p < 0.001), and B ( p = 0.013), and a lower proportion of metastatic disease in A2 (0%, p = 0.024). We also found significantly higher proportions of high-grade tumors in patients with O1 (71.4%, p < 0.001), A1 (70.1%, p = 0.019), of nonmuscle invasive tumors in patients with O1 (55.1%, p < 0.001), O2 (100%, p = 0.045), and recurrent tumors in patients with O1 (70.2%, p < 0.001) and A1 (74.2%, p = 0.007) alleles. Conclusion We did not find an association between the ABO blood group genotype or phenotype as a genetic risk factor for urinary bladder cancer. However, an analysis at the allelic level revealed a statistically significant association between certain alleles of the ABO blood group system and urinary bladder tumors, clinical or histological stage, and recurrence rate, respectively.

Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1,3-N-acetylgalactosaminyltransferase gene

To explore the serological characteristics and genetic variant in a Chinese pedigree with Bw subtype. A 32-year-old female proband who had undergone prenatal examination on December 10, 2020 at the 960th Hospital of the PLA Joint Logistics Support Force and five members from her pedigree were selected as the study subjects. Peripheral blood samples were collected and subjected to ABO blood group phenotyping with serological methods and ABO blood group genotyping with fluorescent PCR. Genetic testing and haplotype analysis were carried out by direct sequencing of the entire coding region of the ABO gene in the proband and cloned sequencing of exons 1-7. The blood type serology of the proband showed Bw, and her ABO blood type genotype determined by fluorescence PCR was B/O. The direct sequencing results showed that the proband had matched the ABO*O.01.01/ABO*B.01 genotype and carried a c.1A>G variant. Cloned sequencing has confirmed the c.1A>G variant to have occurred in the ABO*B.01 allele. Family analysis revealed that the mother of the proband had an O blood type, her husband had a B phenotype, and her three children had a normal B blood type. DNA sequencing showed that the two sons of the proband had a genotype of ABO*B.01 and c.1A>G/ABO*B.01. The daughter of the proband was ABO*O.01.01/ABO*B.01, whilst her mother was ABO*O.01.01/ABO *O.01.02. The novel c.1A>G variant sequence has been registered with the database with a number MZ076785 1. The novel c.1A>G variant of exon 1 of α- 1,3 galactose aminotransferase gene probably underlay the reduced expression of B antigen in this pedigree.

Frequency of Duffy, Kidd, Lewis, and Rh Blood Group Antigens and Phenotypes Among Donors in the Al-Ahsa Region, Saudi Arabia.

In Al-Ahsa, Saudi Arabia, the high consanguinity rates contribute to the prevalence of inherited hemoglobinopathies such as sickle cell disease and thalassemia, which frequently require blood transfusions. These transfusions carry the risk of alloimmunization, necessitating a precise blood component matching to mitigate health risks. Local antigen frequency data is vital for optimizing transfusion practices and enhancing the safety of these medical procedures for the Al-Ahsa population. This study investigated the distribution of Duffy, Kidd, Lewis, and Rh blood group antigens in 1,549 individuals from the region; comparing the frequencies with global data. Serological analyses revealed a high prevalence of the Fy(a+b-) and Jk(a+b+) phenotypes in the Duffy and Kidd blood groups, respectively, with Jk(a-b-) being notably scarce. The Lewis blood group exhibited a significant presence of Le(a-b+) and Le(a+b-) phenotypes, whereas Le(a+b+) was less common. In the Rh system, the D antigen was most prevalent, with other antigens following in descending order of frequency. The study underscores the regional variation in antigen frequencies, emphasizing the need for local blood banks to adapt their screening and matching practices to mitigate the risk of alloimmunization and enhance transfusion safety. These findings are pivotal for refining transfusion strategies and understanding the immunohematology landscape in Al-Ahsa.

Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology.

Although blood group variation was first described over a century ago, our understanding of the genetic variation affecting antigenic expression on the red blood cell surface in many populations is lacking. This deficit limits the ability to accurately type patients, especially as serological testing is not available for all described blood groups, and targeted genotyping panels may lack rare or population-specific variants. Here, we perform serological assays across 24 antigens and whole genome sequencing on 100 Omanis, a population underrepresented in genomic databases. We inferred blood group phenotypes using the most commonly typed genetic variants. The comparison of serological to inferred phenotypes resulted in an average concordance of 96.9%. Among the 22 discordances, we identify seven known variants in four blood groups that, to our knowledge, have not been previously reported in Omanis. Incorporating these variants for phenotype inference, concordance increases to 98.8%. Additionally, we describe five candidate variants in the Lewis, Lutheran, MNS, and P1 blood groups that may affect antigenic expression, although further functional confirmation is required. Notably, we identify several blood group alleles most common in African populations, likely introduced to Oman by gene flow over the last thousand years. These findings highlight the need to evaluate individual populations and their population history when considering variants to include in genotype panels for blood group typing. This research will inform future work in blood banks and transfusion services.

Distribution Characteristics of Rh Phenotype and Feasibility of Compatible Blood Transfusion in Pregnant and Postpartum Women

To analyze the distribution characteristics of Rh phenotype in pregnant and postpartum women in Chongqing area, and to explore the clinical significance of Rh phenotype in pregnant and postpartum women and the feasibility of Rh phenotype compatible blood transfusion. The ABO blood group and Rh phenotype of 65 161 pregnant and postpartum women were detected by microcolumn gel method, and 48 122 males in the same period were taken as controls. The data were analyzed by Chi-square test. There were 112 870 cases (99.64%) of RhD+ in 113 283 samples. In RhD+ cases, CCDee (48.39%) and CcDEe (32.88%) were the main phenotypes. The first case of D-- phenotype in Chongqing area was detected. 413 cases (0.36%) of RhD- were detected, with ccdee (52.78%) and Ccdee (33.41%) as the main phenotypes. Compared with RhD- group, RhD+ group showed statistically significant difference in Rh phenotype distribution (P < 0.01). Among 65 161 maternal samples, the positive rate of 5 antigens of Rh blood group from high to low was D > e > C > c > E, and there was no significant difference compared with male samples (P >0.05). There was no significant difference in the distribution of Rh phenotype between males and pregnant/postpartum women, as well as between pregnant/postpartum women with different ABO blood groups (P >0.05). In pregnant and postpartum women, there was no significant difference in distribution of Rh phenotype among the normal pregnancy population, the population with adverse pregnancy history, the population using human assisted reproductive technology (ART) and the population with infertility (P >0.05). There was no significant difference in the distribution of Rh phenotype between the 4 populations mentioned above and the inpatients in the local general Grade A hospitals and the blood donors (P >0.05). In RhD positive pregnant and postpartum women, the probability of finding compatible blood for CcDEe phenotype was 100%, the probability of finding compatible blood for CCDee, CcDee and CCDEe phenotypes was 45%-60%, the probability of finding compatible blood for ccDEE, ccDEe and CcDEE phenotypes was 5%-10%, and the probability of finding compatible blood for other phenotypes was lower than 0.5%. The supply of blood with CCDee and ccDEE phenotypes can meet the compatible transfusions requirements of 7 Rh phenotypes in more than 99% of patients. Rh phenotype detection should be carried out for pregnant and postpartum women, and it is feasible to carry out Rh phenotype-matched or compatible blood transfusion for pregnant and postpartum women who need blood transfusion.

Distribution of ABO, Rh, and MNS blood groups from students in Walailak University, Thailand: A descriptive cross-sectional study

BackgroundThe presence or absence of blood group antigens can lead to alloimmunization, causing hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The distribution of these antigens varies among different ethnic populations, making it essential to study their prevalence in specific regions. ObjectivesThis study aimed to investigate ABO, Rh, and MNS blood group antigens, phenotypes, and allele frequencies among university students in Southern Thailand. Materials and methodsBlood samples were collected and typed for blood group antigens using serological tests. Antigen, phenotype, and allele frequencies were calculated based on the observed phenotypes. ResultsThe most common ABO blood group was O (37.29%), followed by B (35.98%), A (19.47%), and AB (7.26%). Allele frequencies for ABO system were found to be 0.6107 for ABO*O, 0.2453 for ABO*B, and 0.1427 for ABO*A. Rh blood group distribution revealed a high prevalence of the D antigen (99.01%), followed by e (96.37%), C (95.05%), c (39.27%), and E (29.37%). The allele frequencies for D and d were 0.9005 and 0.0995, respectively. The MNS system showed M and N antigen frequencies of 85.81% and 67.66%, respectively. The most common phenotype was M+N+ (53.47%), followed by M+N− (32.34%) and M−N+ (14.19%). Mia antigen was present in 10.56% of our population. ConclusionsThis study provides an understanding of blood group distribution and gene frequency in our young population, which is crucial for blood management in community transfusion. Additionally, this knowledge holds significant value for population genetics studies.

Molecular characterization and phylogenetic analysis of babA gene of Helicobacter pylori isolated from Indian patients with gastrointestinal diseases

IntroductionOuter membrane protein (OMP) of Helicobacter pylori (H. pylori) i.e., blood group antigen binding adhesin (babA) is responsible for the attachment of H. pylori in the gastric epithelium. Its adherence is causative for gastric pathology such as gastritis, peptic ulcer disease (PUD), or digestive tract disorders like erosive reflux disease (ERD) and (NERD) non-erosive reflux disease and together called Gastroesophageal reflux disease (GERD). BabA manifests rapid and varied selection via substitution of amino acid in its Leb-carbohydrate binding domain (CBD) which enables better binding preferences for distinct human populations and ABO blood group phenotypes. The positive evolutionary selection of the pathogenic factor of this genetically diverse bacterium has enabled it to adapt to the host gastric environment. Analyzing the association of virulent genes (cagA, vacA) and babA will help us better understand bacteria’s pathogenicity. Method109 H. pylori strains from patients with distinct gastrointestinal diseases were genotyped using Polymerase Chain Reaction(PCR) for cagA, vacA, and babA followed by Sanger sequencing and phylogenetic analysis. ResultIn the babA + ve genotype, a statistically significant association with p = 0.04 and < 0.0001 is seen in gastritis and ERD respectively. A significant association of genotype vacAs1m2 (p = 0.0002) was seen in gastritis, vacAs1m1 (p = 0.02) in NERD, vacAs1m1 (p < 0.0001) and vacAs1m2 (p = 0.002) in ERD. This relationship helps to detect gastritis or ERD where BabA gene can be used as an independent marker for detecting their presence. ConclusionThe appearance of variants within distinct disease categories is due to local genetic variation.

Impact of transcription factors KLF1 and GATA1 on red blood cell antigen expression: a review.

KLF transcription factor 1 (KLF1) and GATA binding protein 1 (GATA1) are transcription factors (TFs) that initiate and regulate transcription of the genes involved in erythropoiesis. These TFs possess DNA-binding domains that recognize specific nucleotide sequences in genes, to which they bind and regulate transcription. Variants in the genes that encode either KLF1 or GATA1 can result in a range of hematologic phenotypes-from benign to severe forms of thrombocytopenia and anemia; they can also weaken the expression of blood group antigens. The Lutheran (LU) blood group system is susceptible to TF gene variations, particularly KLF1 variants. Individuals heterozygous for KLF1 gene variants show reduced Lutheran antigens on red blood cells that are not usually detected by routine hemagglutination methods. This reduced antigen expression is referred to as the In(Lu) phenotype. For accurate blood typing, it is important to distinguish between the In(Lu) phenotype, which has very weak antigen expression, and the true Lunull phenotype, which has no antigen expression. The International Society of Blood Transfusion blood group allele database registers KLF1 and GATA1 variants associated with modified Lutheran expression. Here, we review KLF1 and recent novel gene variants defined through investigating blood group phenotype and genotype discrepancies or, for one report, investigating cases with unexplained chronic anemia. In addition, we include a review of the GATA1 TF, including a case report describing the second GATA1 variant associated with a serologic Lu(a-b-) phenotype. Finally, we review both past and recent reports on variations in the DNA sequence motifs on the blood group genes that disrupt the binding of the GATA1 TF and either remove or reduce erythroid antigen expression. This review highlights the diversity and complexity of the transcription process itself and the need to consider these factors as an added component for accurate blood group phenotyping.

Bacterial Infection versus Viral Infection Preference of ABO Blood Group Phenotype Patients.

Several studies have established an association between the blood group type and susceptibility to infections. This study aimed to evaluate a correlation between the blood group type and the susceptibility to infection. A total of 558 patients were enrolled in this study who attended at the Althawra Hospital, Ibb City, from March to August 2018. Blood samples were analyzed for complete blood count and blood group. We observed a high frequency of infections affecting the digestive system (26.4%), while the least affected system was the urogenital system 5.9%. Patients with A blood group exhibit an increased probability to be infected by viruses than they do for bacteria (odds ratio [OR] = 1.430; 95% confidence interval [CI] = 1.005 to 2.035; P = 0.05 and OR = 0.098; 95% CI = 0.064 to 0.148; P < 0.0001, respectively). It was observed that blood group A individuals were more susceptible to infection with hepatitis B virus than were the other groups (P = 0.041; OR = 1.704, 95% CI = 1.053-2.773). The liklihood of O blood group patients experiencing urogenital infections was less than that of non-O blood group patients one third (OR = 0.353, 95% CI = 0.158-0.789; P = 0.014). This study corroborates previous findings that demonstrated that certain blood groups are more prone to infection by one agent than are patients with other blood groups.

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants

BackgroundKrüppel-like factor 1 (KLF1), a crucial erythroid transcription factor, plays a significant role in various erythroid changes and haemolytic diseases. The rare erythrocyte Lutheran inhibitor (In(Lu)) blood group phenotype serves as an effective model for identifying KLF1 hypomorphic and loss-of-function variants. In this study, we aimed to analyse the genetic background of the In(Lu) phenotype in a population-based sample group by high-throughput technologies to find potentially clinically significant KLF1 variants.ResultsWe included 62 samples with In(Lu) phenotype, screened from over 300,000 Chinese blood donors. Among them, 36 samples were sequenced using targeted Next Generation Sequencing (NGS), whereas 19 samples were sequenced using High Fidelity (HiFi) technology. In addition, seven samples were simply sequenced using Sanger sequencing. A total of 29 hypomorphic or loss-of-function variants of KLF1 were identified, 21 of which were newly discovered. All new variants discovered by targeted NGS or HiFi sequencing were validated through Sanger sequencing, and the obtained results were found to be consistent. The KLF1 haplotypes of all new variants were further confirmed using clone sequencing or HiFi sequencing. The lack of functional KLF1 variants detected in the four samples indicates the presence of additional regulatory mechanisms. In addition, some samples exhibited BCAM polymorphisms, which encodes antigens of the Lutheran (LU) blood group system. However, no BCAM mutations which leads to the absence of LU proteins were detected.ConclusionsHigh-throughput sequencing methods, particularly HiFi sequencing, were introduced for the first time into genetic analysis of the In(Lu) phenotype. Targeted NGS and HiFi sequencing demonstrated the accuracy of the results, providing additional advantages such as simultaneous analysis of other blood group genes and clarification of haplotypes. Using the In(Lu) phenotype, a powerful model for identifying hypomorphic or loss-of-function KLF1 variants, numerous novel variants have been detected, which have contributed to the comprehensive understanding of KLF1. These clinically significant KLF1 mutations can serve as a valuable reference for the diagnosis of related blood cell diseases.

Distribution of ABO-Rh Blood Group System Among the Students at Shah Abdul Latif University Khairpur, Pakistan

Background: The distribution of ABO and Rh blood groups significantly varies across different populations and is crucial for effective blood bank management and transfusion services. Previous studies have shown diverse patterns in blood group distribution globally, influenced by regional, ethnic, and demographic factors. Objective: This study aimed to analyze the distribution of ABO and Rh blood groups among the student population at Shah Abdul Latif University (SALU), Sindh, Pakistan, and to understand its implications for local healthcare services. Methods: A cross-sectional study was conducted involving 253 students (133 males and 120 females) aged 18 to 24 years. Informed consent was obtained from all participants. The study employed a sterile lancet for blood sample collection via a finger prick. Blood group phenotyping was done using the slide method with monoclonal antiserum A, B, and D. Agglutination results were recorded to determine the ABO blood group and Rh factor. Data analysis was conducted using the Statistical Package for the Social Sciences (SPSS) version 25. Results: The study found that 21.7% of students belonged to blood group A (49.1% Rh positive and 5.5% Rh negative in males, 40% Rh positive and 5.5% Rh negative in females), 35.2% to blood group B (38.2% Rh positive and 6.7% Rh negative in males, 52.8% Rh positive and 2.3% Rh negative in females), 11.1% to blood group AB (57.1% Rh positive in males, 39.3% Rh positive in females), and 32.0% to blood group O (54.3% Rh positive and 2.5% Rh negative in males, 38.3% Rh positive and 4.9% Rh negative in females). Conclusion: The distribution of ABO and Rh blood groups in the student population at SALU exhibits a distinct pattern, emphasizing the importance of regional studies in blood group distribution. These findings have significant implications for blood bank management, transfusion services, and healthcare planning in the region.

Association of ABO blood group, Rh phenotype and MN blood group with susceptibility to COVID-19.

Previous studies have reported that the susceptibility to coronavirus disease 2019 (COVID-19) is related to ABO blood group, but the relationship with Rh phenotype and MN blood group is unknown. China had adopted a strict control policy on COVID-19 until December 5, 2022, when local communities were liberalized. Therefore, we aimed to explore the correlation between ABO blood group, Rh phenotype, MN blood group and susceptibility to COVID-19 based on the time sequence of infection during the pandemic. A total of 870 patients who were routinely hospitalized in Ningbo Medical Center Lihuili Hospital from March 1, 2023 to March 31, 2023 were randomly selected to enroll in this study. Patients were divided into susceptible group and non-susceptible group, according to the time of their previous infection. The demographics and clinical information of the enrolled participants were collected from electronic medical records. The association of ABO blood group, Rh phenotype and MN blood group with susceptibility to COVID-19 was analyzed. A total of 650 cases (74.7%) had been infected with COVID-19, with 157 cases (18.0%) in the second week and 252 cases (29.0%) in the third week, reaching the peak of infection. Compared with the non-susceptible group, the susceptible group had no statistically significant differences in ABO blood group and Rh phenotype, but the proportion of N+ was higher (75.6% vs 68.9%, P = 0.030) and the proportion of MM was lower (24.4% vs 31.1%, P = 0.030). Consistent with this, ABO blood group and Rh phenotype were not significantly associated with susceptibility to COVID-19 (P>0.05), while N+ and MM were associated with susceptibility to COVID-19 (OR: 1.432, 95% confidence interval [CI]: 1.049, 1.954, P = 0.024; OR: 0.698, 95% CI: 0.512, 0.953, P = 0.024, respectively), after adjusting for age, sex, BMI, basic disease, and vaccination status in multivariate logistic regression analysis. Our study showed that ABO blood group and Rh phenotype may not be related to the susceptibility to COVID-19, but MN blood group may be associated with the susceptibility to COVID-19.

Distribution And Prevalence Of ABO And Rh Blood Group Phenotypes Among Voluntary Blood Donors In A Tertiary Care Hospital At Kolhapur, Maharashtra, India: A Retrospective Study

Distribution And Prevalence Of ABO And Rh Blood Group Phenotypes Among Voluntary Blood Donors In A Tertiary Care Hospital At Kolhapur, Maharashtra, India: A Retrospective Study