BACKGROUND: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
METHODS: The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups.
RESULTS: The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379).
CONCLUSIONS: The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH.

The etiology of spina bifida, a neural tube birth defect, is largely unknown, but a majority of cases are thought to be genetic in origin. Although maternal blood type was found not to be associated with the occurrence of spina bifida, the analysis was never extended to other aspects of the disorder. The purpose of this descriptive study was to determine if maternal blood type was related to characteristics of children with spina bifida. The blood type of 221 mothers of children with spina bifida enrolled on the Arkansas Spinal Cord Disability Registry from 1995 to 2008 was obtained by mailed questionnaire. All children were community-dwelling and from singleton pregnancies. As expected, analysis of mother-child data showed that the distribution of mothers\' blood type was not statistically different from the general population (chi-squared, P = 0.9203). However, the blood type of these mothers was associated with their child\'s lesion level (chi-squared, P = 0.011). Mothers with blood type A more frequently had children with thoracic lesions; mothers with non-A blood types more frequently had children with lumbar and sacral lesions. In addition, mean birthweight differed by mothers\' blood type (analysis of variance, P = 0.025). Children of mothers with blood type A had the highest mean birthweight, while those of mothers with blood type AB had the lowest. Also, hydrocephalus was present more frequently in children with thoracic lesions compared to those with lumbar and sacral lesions (chi-squared, P = 0.001). Interestingly, these results were significant for female children but not for male children. In conclusion, maternal blood type was associated with lesion level and birthweight of children with spina bifida.

OBJECTIVE: To study the molecular basis for a proband with A subtype B of the ABO blood group and explore the influence of amino acid variant on the activity of glycosyltransferase (GT).
METHODS: A proband who had presented at the First Affiliated Hospital of Zhengzhou University on July 2, 2020 was selected as the study subject. Serological identification of the ABO blood groups of the proband and her family members were performed by gel card and test tube methods. The ABO gene of the proband was identified by PCR-sequence specific primers (PCR-SSP) and DNA sequencing. A 3D molecular homologous model was constructed to predict the impact of the variant on the stability of α-(1→3)-D-N-acetylgalactosamine transferase (GTA).
RESULTS: The red blood cells of the proband, her mother and two younger brothers showed weak agglutination with anti-A and strong agglutination with anti-B. The sera showed 1~2+ agglutination with Ac and no agglutination with Bc. Based on the serological characteristics, the proband was identified as AwB subtype. Pedigree analysis suggested that the variant was inherited from her mother. The blood group of the proband was identified as A223B type by PCR-SSP. ABO gene sequencing analysis showed that the proband has harbored heterozygous variants of c.297A>G, c.467C>T, c.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C, c.930G>A and c.1055insA. Based on the results of clone sequencing, it was speculated that the genotype was ABO*A223/ABO*B.01. There were c.467C>T and c.1055insA variants compared with ABO*A1.01, and c.1055insA variant compared with ABO*A1.02. Homologous modeling showed that the C-terminal of A223 GT was significantly prolonged, and the local amino acids and hydrogen bond network have changed.
CONCLUSIONS: Above results revealed the molecular genetics mechanism of A223B subtype. The c.1055insA variant carried by the proband may affect the enzymatic activity of GTA and ultimately lead to weakening of A antigen.

UNASSIGNED: Colorectal signet-ring cell carcinoma (SRCC) is a rare subtype of malignant adenocarcinoma, accounting for approximately 1 % of colorectal cancer (CRC) cases. Its biomarkers and molecular characteristics remain controversial, and there are no specific therapeutic targets or strategies for its clinical treatment.
UNASSIGNED: A retrospective study was conducted between January 2010 and December 2021. 1058 colorectal cancer cases from the Sun Yat-sen University Cancer Center and 489 cases from the Tumor Genome Atlas Project were included in the analysis, of which 64 were SRCC. Data extraction included patient demographics, blood types and risk factors, including clinical variables and genomics (either a 19-gene panel NGS or 1021-gene panel NGS). Univariate analyses were performed to identify factors significantly associated with overall survival.
UNASSIGNED: The blood groups of 27 (42.2 %), 18 (28.1 %), 12 (18.8 %), and seven (10.9 %) patients were classified as O, A, B, and AB, respectively. We found that O was a unique blood group characterized by a low frequency of KRAS mutations, a high frequency of heterozygosity at each HLA class I locus, and a high tumor mutational burden (TMB). Patients in blood group A with high-frequency KRAS mutations and those in blood group B with anemia and metabolic abnormalities required targeted treatment. Furthermore, genetic alterations in SRCC differed from those in adenocarcinoma and mucinous adenocarcinoma.
UNASSIGNED: Our study revealed genomic changes in SRCC patients across different blood groups, which could advance the understanding and precise treatment of colorectal SRCC.

OBJECTIVE: To determine the association between ABO and Rh blood groups with retinal structural indices including macular thickness and peripapillary retinal nerve fiber layer (RNFL) thickness.
METHODS: This cross-sectional study was conducted using convenience sampling in a tertiary referral eye hospital in Tehran, Iran. Study participants were referred to the hospital laboratory to test their blood group. Ocular examinations were performed including measurement of visual acuity, auto-refraction, subjective refraction, and slit-lamp biomicroscopy. Retinal imaging was carried out using Spectral-domain OCT under dilated papillary conditions.
RESULTS: Three hundred and twenty-eight individuals were recruited in this study. Of these, 219 (60.7%) were female and the mean age of the participants was 63.29 ± 5.57 years (range: 56 to 83 years). According to the multiple linear regression model, the global peripapillary RNFL thickness [coefficient: -3.05 (95% CI: -5.30 to -0.74); P = 0.010] and peripapillary RNFL thickness in the superior [coefficient: -4.65 (95% CI: -8.40 to -0.89), P < 0.001] and inferior [coefficient: -4.00 (95% CI: -7.81 to -0.19); P = 0.040] quadrants were significantly thinner in individuals with blood type B compared to those with other ABO blood groups. The average [coefficient: 12.69 (95% CI: 4.12-21.64); P = 0.004) and central [coefficient: 16.21 (95%: 6.44-25.97); P = 0.001) macular thicknesses were significantly thicker in AB group compared to other blood groups. The average macular thickness was significantly thinner in Rh + compared to the Rh- group [coefficient: -8.33 (95% CI: -15.4 to -1.25); P = 0.021].
CONCLUSIONS: Retinal structural indices may be related to blood groups implying a genetic linkage. Considering the lack of consistency among various studies, larger trials are needed to explore the effect of ABO and Rh grouping on peripapillary RNFL and macular thicknesses.

High neonatal bilirubin is a common phenomenon responding to phototherapy. We report a case of a newborn with a highly elevated bilirubin of 37.3 mg/dL due to ABO incompatibility between the mother (Group O) and the newborn (Group A) requiring whole blood exchange, a procedure performed rarely to treat newborn hyperbilirubinemia. The newborn (38.8 weeks of gestation) initially showed a total bilirubin of 8.4 mg/dL and was discharged after being stabilized by phototherapy. However, the baby returned to the hospital with highly elevated bilirubin and was admitted to the Neonatal Intensive Care Unit (NICU). Emergent reconstituted whole blood exchanger therapy was initiated due to refractoriness to phototherapy and IVIG. Markedly elevated anti-A titer was found in the mother\'s blood (1:512) and cord blood (1:128). The baby was stabilized and eventually discharged with a serum bilirubin of 13.8 mg/dL. This case demonstrates the possible predictive value of mother/cord blood anti-A titers in severe newborn hyperbilirubinemia, which may prevent premature discharge and trigger early initiation of lifesaving therapy.

BACKGROUND: Liver transplantation is the definitive management for severe acute liver failure refractory to supportive management, and end- stage chronic liver failure. Owing to a shortage of deceased liver donors, South Africa requires innovative techniques to broaden the donor pool.
OBJECTIVE: This study evaluated the outcomes of the Wits Transplant Unit ABO-incompatible liver transplant (ABOi-LT) programme.
METHODS: This retrospective record review compared all adult and paediatric patients receiving ABO-compatible (ABOc) and ABO-incompatible (ABOi) liver transplants from January 2014 to December 2021 with a minimum one-year follow-up. Primary outcomes were recipient and graft survival and secondary outcomes included vascular, enteric and biliary complications, relook surgery, acute cellular rejection (ACR) and lenghth of hospital stay. Cox proportional hazards regression was performed to examine the effect of ABO-compatibility group on recipient and graft survival. The relationship between the ABO-compatibility group and categorical outcomes was assessed by binomial regression.
RESULTS: During the study period, 532 liver transplants were performed; 44/532 (8%) were ABOi of which 14/44 (32%) were paediatric and 30/44 (68%) adult recipients. Within the pediatric group, the proportion of transplants performed for acute liver failure was significantly higher in the ABOi group (7/14; 50%) compared with the ABOc group (33/207; 16%) (p=0.005). Comparable recipient and graft survival estimates were noted: one-, three- and five-year recipient survival in the ABOi group was 77% (95% confidence interval (CI) 44 - 92), 58% (95% CI 17 - 84) and 58% (95% CI 17 - 84) respectively. There were significantly increased relative risks of relook surgery for the ABOi group compared with the ABOc group, both overall (relative risk (RR) 1.74; 95% CI 1.10 - 2.75) and at 90 days (RR 2.28; 95% CI 1.27 - 4.11); and also, for pre-discharge bloodstream infection (BSI), (RR 1.84; 95% CI 1.11 - 3.06). In adults, there were significantly more acute indications for liver transplantation in the ABOi (10/30; 33%) compared with the ABOc group (26/281; 9%) (p=0.0007) with the most common cause being drug or toxin ingestion (16/36; 44%). For the ABOi group, recipient survival estimates (95% CI) at 1, 3 and 5 years were 71% (50 - 84), 63% (41 - 78) and 58% (37 - 75) which, as noted with complication rates, were similar between ABO groups.
CONCLUSIONS: This study confirms ABOi-LT as a feasible option to increase the liver donor pool in this organ-depleted setting as recipient survival and complication rates were similar between ABO-compatibility groups.

BACKGROUND: ABO-incompatible kidney transplantation gives patients with chronic kidney disease requiring dialysis and without a blood group-compatible donor an alternative option for a kidney transplant.
OBJECTIVE: To describe our first experiences and outcomes with 3 patients using Glycosorb ABO immunoadsorption (IA) columns in performing ABO-incompatible living-donor kidney transplants. This is the first time this technique has been used in Africa.
METHODS: As per the protocol, patients needed between 1 and 4 sessions of IA and received rituximab ~ one month before transplantation.
RESULTS: All the patients achieved the target isohaemagglutinin antibody titre of 1:4 pretransplant. Only 1 patient with the highest initial screening titre (1:256) needed IA post-transplant. None of the patients experienced clinical rejection, and all had good graft kidney function at discharge and at the time of writing.
CONCLUSIONS: Glycosorb ABO IA is an effective technique in enabling ABO-incompatible living-donor kidney transplants to be performed successfully in a South African setting.

Antibody incompatible transplantation (AIT) may be an only option for highly sensitized patients. Severe form of early antibody mediated rejection (AMR) adversely affects graft survival after AIT. The aim of this study was to identify individuals at risk of AMR. We analyzed 213 living donor AITs performed at our center. Among 120 ABOi, 58 HLAi and 35 DSA + FCXM-negative cases, the rates of early AMR were 6%, 31%, and 9%, respectively (p < 0.001). On multivariate analysis for graft loss, early AMR had a HR of 3.28 (p < 0.001). The HLAi group had worse death-censored graft survival (p = 0.003). In the HLAi group, Patients with aggressive variant AMR (AAMR) had greater percentage of C3d complement fixing DSA, higher baseline class I and total DSA MFI levels and B-cell FCXM RMF. C1q and C3d complement fixing DSA and strong positivity of baseline B- or T-cell FXCM as predictors of AAMR had 100% sensitivity. Early AMR is of significant clinical concern in AIT as it results in poor graft survival and is not well described in literature. An aggressive variant is characterized by massive rise in DSA levels at rejection. Baseline DSA, C1q, and C3d and baseline FCXM values can be used to risk-stratify candidates for AIT.

People with certain blood groups and Rh positive are more prone to infections transmitted by blood transfusion. The aim of this research was to survey the accompaniment of ABO Blood Group System and Rh type with infection to hepatitis C virus in India. This was a retrospective study in patients during October 2019-March2022 in India. The population of blood donors was tested for blood borne infections, including HCV. Logistic regression was used and collected data were analyzed using SPSS v.16.A total number of 901 people referred to the organization for donating blood during aforementioned years. Of these, 224 people had a history of hepatitis C disease, including 189 unmarried persons and the rest were married. 167 individuals were males and 57individuals were females. People who had viral diseases were comprised of 76 persons with negative Rh and 148positive persons with Rh.Future aims should include studies into blood groups and Rh types, according to the results of this study, in order to avoid the spread of blood-borne infections. Furthermore, further study is needed to establish the particular blood kinds that provide an elevated danger for classified donors.