Vitamin B12 Deficiency Research Articles

Prevalence of peripheral neuropathy in children with transfusion-dependent thalassemia: A hospital-based cross-sectional study.

Our study aimed to determine the prevalence of Peripheral Neuropathy (using nerve conduction studies (NCS)) in children with transfusion-dependent thalassemia aged between 5 to 18 years and to study its correlation with chronic anemia, ferritin levels, chelation status, annual transfusion requirement, deficiency of serum Vitamin B12, and Folate levels. In this hospital-based cross-sectional study, 100 eligible children were enrolled in a tertiary care teaching hospital in New Delhi, India. Neurological examinations focusing on peripheral neuropathy followed by NCS were performed on all the patients. Age-wise cutoff values outside of 2.5 SD of normal were taken as abnormal. None of the children had clinical features of peripheral neuropathy, although 77% had abnormalities in NCS. Of these, 33% had pure motor nerve changes, 7% had pure sensory nerve changes, 1% had abnormal F responses, and 26% had mixed nerve changes. These changes correlated significantly with chronic anemia and duration of iron chelation but not with other factors. In children with transfusion-dependent thalassemia who do not exhibit any neurological signs or symptoms, however, it is not uncommon to observe abnormal NCS at an average hemoglobin (Hb) level of less than 9.5 g/dl. Further comprehensive case-control studies are necessary to determine if a more specific Hb target range of 9.5 to 10.5 g/dl is appropriate and to investigate the potential impact of chelation therapy on these changes.

Controlling functional homeostasis of ileal resident macrophages by vitamin B12 during steady state and Salmonella infection in mice

Dietary micronutrients, particularly vitamin B12 (VB12), profoundly influence the physiological maintenance and function of intestinal cells. However, it is still unclear whether VB12 modulates the transcriptional and metabolic programming of ileal macrophages (iMacs), thereby contributing to intestinal homeostasis. Using multiomic approaches, we demonstrated that VB12 primarily supports the cell cycle activity and mitochondrial metabolism of iMacs, resulting in increased cell frequency compared to VB12 deficiency. VB12 also retained the ability to promote maintenance and metabolic regulation of iMacs during intestinal infection with Salmonella Typhimurium (STm). On the contrary, depletion of iMacs by inhibiting CSF1R signaling significantly increased host susceptibility to STm and prevented VB12-mediated pathogen reduction. These results thus suggest that regulation of VB12-dependent iMacs critically controls STm expansion, which may be of new relevance to advance our understanding of this vitamin and to strategically formulate sustainable therapeutic nutritional regimens that improve human gut health.

Evaluation of Vitamin B12 deficiency Anemia in Geriatric Patients

Objective: In our study, we aimed to evaluate vitamin B12 deficiency anemia, macrocytosis rate and vitamin B12 values in patients over 65 years of age and compare them with those under 65 years of age groups. Method: Retrospectively, A total of 8062 patients, 1213 over the age of 65 and 6849 under the age of 65, admitted between March 2019 and March 2024 were included in the study. The patients' hemoglobin, hematocrit, Mean corpuscular volume (MCV), White blood cell (WBC), Red cell distribution width (RDW), Platelet (PLT) values and vitamin B12 levels were examined. Patients were divided into two groups as age of 65 and over ( geriatrics) and age below 65 (young-adults), and each group were divided into two groups in terms of anemia. Groups and subgropus were compared with each other. Results: While the ratio of vitamin B12 deficiency anemia in geriatrics was 20.2%, in young-adults it was 8.3%. No difference was observed in vitamin B12 levels in terms of gender in both age groups significantly. With the roc analyses the cut-off value for vitamin B12 causing anemia in elderly patients was 327 pg/mL (AUC: 0.602, p≤0.001) with a sensitivity of 94.3% and specificity of 34.2%. Conclusion: The fact that vitamin B12 levels that cause anemia in elderly patients are higher than in young-adult patients made us think that the usual limit values may need to be reconsiderated in geriatric population

A CROSS SECTIONAL STUDY ON PREVALENCE AND ETIOLOGY OF ANAEMIA IN PREGNANT FEMALE IN A TERTIARY CARE CENTRE

Background: Anemia in pregnancy is a significant public health concern, particularly in developing countries, where it contributes to maternal and neonatal morbidity and mortality. The etiology of anemia in pregnant women is multifactorial, often involving nutritional deficiencies, particularly iron, vitamin B12, and folate. Understanding the prevalence, causes, and associated factors of anemia in this population is crucial for developing effective interventions. Aim: The study aimed to estimate the prevalence of anemia among pregnant women attending a tertiary care center and to determine its etiology and associated factors. Material and Methods: A cross-sectional study was conducted at the Department of Obstetrics and Gynecology, Government Hospital, Kota, including 250 pregnant women. Participants underwent a detailed clinical examination, and blood samples were analyzed for hemoglobin levels and peripheral blood smear findings. The study assessed nutritional deficiencies, including iron, vitamin B12, and folate, as the primary etiologies of anemia. Data on sociodemographic factors, parity, birth spacing, and ANC booking status were also collected and analyzed for associations with anemia. Results: The study found a high prevalence of anemia (81.2%) among the participants, with moderate anemia being the most common form (54.4%). Nutritional deficiencies were the primary causes, with iron deficiency anemia present in 48% of cases. A significant proportion of women (20.8%) had combined deficiencies of vitamin B12, folate, and iron. Anemia was significantly associated with lower socioeconomic status, multiparity, and birth spacing of less than 24 months. No significant associations were observed with age, education, occupation, residence, type of family, or ANC booking status. Conclusion: This study underscores the high burden of anemia among pregnant women, driven predominantly by nutritional deficiencies. The findings highlight the importance of addressing socioeconomic disparities and providing targeted nutritional interventions to reduce the incidence of anemia in this population.

H PYLORI INFECTION AND ASSOCIATED VITAMIN B12 DEFICIENCY

Helicobacter pylori (H. pylori) infection is one of the most common gastrointestinal infections worldwide, and it has been implicated in the development of vitamin B12 deficiency. Chronic H. pylori infection leads to gastric mucosal inflammation, which may impair the absorption of vitamin B12. Early identification and treatment of H. pylori infection may prevent the clinical consequences of vitamin B12 deficiency, such as anemia and neurological disorders. Objective: To evaluate the incidence and association factors of vitamin B12 deficiency in patients who are suffering from H pylori infection. Study Design: Cross Sectional Study Duration of Study: Department of Internal Medicine, Islamabad Medical Complex from August 2021 to May 2022. Methods: All patients having Helicobacter pylori serology, Urea breath test or H pylori stool antigen positive were included. A detailed history and clinical evaluation of patients was done. All patients were provided standard triple regimen fr H-pylori eradication. Demographic details, symptoms, blood complete picture including the mean corpuscular volume (MCV), hemoglobin and Vitamin B12 level were evaluated. B-12 levels less than 190 pg/ml were considered low and MCV between 80-100 fl was considered normal. Chi-square as applied to see the association. Results: A total of 200 cases participated in the study. There were 102(51%) females and 98 (49%) were male. The mean age of the patients was 41.77+ 12.67 years. Among the participants, most common symptom was dyspepsia present in 61 (30.5%). A total of 149 (74.5%) patients were diagnosed through H pylori serology. Although 54.5% of patient were deficient in B-12 levels yet only 34 (17%) had macrocytosis and 14 (7%) showed microcytosis. Anemia was present in 89 (44.5%) showing mixed picture. So, B-12 deficiency was sub-clinical. Patients with anemia responded better to standard treatment (p value=0.025).Conclusion: The incidence of vitamin B 12 deficiency is high among H pylori infected cases. Prompt treatment of H pylori gastritis may help prevent clinical manifestation of B 12 deficiency.

Serum folate levels, but not vitamin B12, are associated with slower progression in carotid intima-media thickness in a population exposed to mandatory folic acid fortification

Background&AimsFolate and vitamin B12 are vitamins involved in one carbon metabolism. Carotid intima-media thickness (cIMT) is a non-invasive test and an early atherosclerosis marker. The relationship between these vitamins and cIMT is not well established. This study aimed to investigate the association between baseline vitamins and cIMT changes during a median follow-up of 8 years. MethodsProspective cohort study involving 5,061 ELSA-Brasil participants from São Paulo state aged 35-74 years at baseline. Serum folate and vitamin B12 levels and dietary intake were assessed at baseline. Ultrasound cIMT measurements were performed at baseline and wave 3. Linear mixed-effects models, adjusted for covariables, assessed the association between vitamins at baseline and changes in cIMT. Results4,260 participants were included; mean (SD) age was 51.4 (8.9) years and 54.5% were women. Folate (0.02%) and vitamin B12 (2.6%) deficiencies were almost nonexistent. Participants in the 4th quartile of serum folate had a slower cIMT increase during 8 years of follow-up than those in the 1st quartile (1st vs. 4th quartile comparison: β (95% CI): -0.015 (-0.026; -0.004), P: 0.006 for model 3). These findings remained the same after sensitivity analysis for overall dietary supplements and specifically multivitamins use. No association was found between vitamin B12 biomarker and the outcome. Dietary folate intake was also not associated with cIMT changes. ConclusionIn this population exposed to mandatory folic acid food fortification, prevalence of vitamins deficiencies was very low. Highest quartile of serum folate seemed to slow down the increment of cIMT measurements over time.

The Prevalence of Vitamin B12 Deficiency Among Diabetic Patients Who Use Metformin.

Vitamin B12 deficiency is a recognized concern among patients with type 2 diabetes mellitus (T2DM) using metformin due to its potential impact on health outcomes. This study investigates the prevalence of vitamin B12 deficiency among diabetic patients using metformin at Dr. Sulaiman Al Habib Medical Group (HMG) hospitals. This retrospective cohort study utilized electronic medical records from the VIDA system (www.cloudsolutions.com) over a one-year period. Participants included adult T2DM patients managed with metformin therapy. Data collection involved demographic details, medical history, medication usage, and serum vitamin B12 levels. Statistical analyses included descriptive statistics and comparative tests to assess deficiency prevalence across demographics. Among the study population (N=37,781), vitamin B12 deficiency prevalence ranged from 460 (4.6%) to 507 (5.5%) across four quarters of 2023. Females exhibited a higher prevalence than males (P < 0.05), particularly in the second and fourth quarters. Age-related analyses identified younger and middle-aged groups (≤25 years and 36-45 years) as having higher deficiency rates (P < 0.001). Medication use, specifically metformin, correlated with increased deficiency prevalence (P < 0.001). The findings underscore the significance of gender, age, and medication use in influencing vitamin B12 status among diabetic patients using metformin. The study highlights the need for tailored monitoring strategies and interventions to mitigate deficiency risks and optimize patient outcomes. Future research should explore mechanisms underlying these associations and expand findings to broader populations. This study provides critical insights into the epidemiology of vitamin B12 deficiency among diabetic patients using metformin at HMG hospitals. The results emphasize the importance of personalized healthcare approaches to address nutrient deficiencies and improve overall patient care. This study summarizes the key elements of your research paper, focusing on the prevalence of vitamin B12 deficiency in relation to metformin use among diabeticpatients.

Prevalence, associated factors, and impact of vitamin B12 deficiency in older medical inpatients.

This retrospective cohort study aims to explore the prevalence of vitamin B12 deficiency in older hospitalized adults and identify key factors associated with this deficiency, as well as its impact on frailty and functional decline. Data were collected from older adults (≥65years) sequentially admitted to the Internal Medicine Department of a tertiary university hospital. Clinical and laboratory characteristics, including age, sex, somatometric data, cause of admission, past medical history, chronic medication use, and laboratory tests, were recorded. Frailty and functional status were assessed using the Fried Frailty Scale (FFS), Clinical Frailty Scale (CFS), Barthel Index, and Katz Index. Vitamin B12 levels on admission were categorised as deficient (<200pg/ml), borderline (200-300pg/ml), normal (300-999pg/ml), and high (≥1000pg/ml). A total of 894 patients were included. The median age was 83years and 487 (54.5%) were females. The prevalence of vitamin B12 deficiency was found in 9.1%, while 17.3% of the sample had borderline levels. Multivariate analysis identified polypharmacy (≥5 drugs), low albumin levels/Geriatric Nutritional Risk Index (GNRI), and nursing home residency as independent factors associated with low B12 levels. Multivariate analyses showed that B12 deficiency was significantly associated with higher frailty rates and lower functional status. Vitamin B12 deficiency is prevalent among hospitalized older patients and is significantly associated with increased frailty and reduced functional status. These findings underscore the importance of routine screening for B12 deficiency in this vulnerable population to improve clinical outcomes and quality of life.

A stable Cd(II) coordination polymer with amino organic ligand as a rarely fluorescence red-shift and turn-on sensor toward methylmalonic acid

With the change of lifestyle, the health of society has become an increasingly serious problem. Methylmalonic acid (MMA) is a specific functional metabolic marker that is sensitive to vitamin B12 deficiency. Coordination polymers (CPs) are ideal candidates for fluorescence recognition analyte. A new Cd(II) CP with the formula of [Cd(bbip)(NH2-BDC)(H2O)]n (1, bbip = 2,6-bis(benzimidazol-1-yl)pyridine, NH2–H2BDC = 2-aminoterephthalic acid) was synthesized by mixed-ligand strategy and solvothermal method. The structure shows that the 1 belongs to one-dimensional double-stranded structure. The fluorescence results revealed that 1 could selectively detect MMA by fluorescence red shift and fluorescence enhancement (turn-on), and could be recognized by naked eyes. The detection limit of 1 toward MMA was 0.72 μM. The sensing mechanism may be due to the electron transfer and the formation of exciplex. Moreover, this CP also displays good thermal stability, chemical stability and reusability. Importantly, 1 could be considered as the first example of fluorescence red-shift and turn-on CP sensor for MMA.

Prevalence and Clinicopathological Features of Autoimmune Metaplastic Atrophic Gastritis in the Eastern Province of Saudi Arabia: A Regional Study.

Introduction. Autoimmune metaplastic atrophic gastritis (AMAG, also termed autoimmune gastritis) is a chronic gastritis of autoimmune pathogenesis. Although its clinical and pathological features are well-documented in many countries, data from Middle Eastern populations remain scarce. This study examined the prevalence of AMAG in gastric specimens from the region, specifically from Saudi Arabia. Methods. We conducted a retrospective review of the pathology database of gastric specimens with a diagnosis of AMAG between 2020 and 2023. Detailed clinical, endoscopic, and pathological features of identified features were described. Result. Of the 978 gastric biopsies received, 17 patients were diagnosed with AMAG. The cohort comprised 11 women (64.7%) and 6 men (35.3%), presenting at a median age of 50 years (range: 32-85). Clinical manifestations varied widely, from abdominal pain (n = 6), dyspepsia (n = 2), symptomatic anemia with significant vitamin B12 deficiency (2 of 17) to asymptomatic/incidentally diagnosed patients (5 of 17). The tissue samples showed varying histological characteristics, with some showing lymphoplasmacytic infiltrate, mucosal atrophy, and hyperplasia of enterochromaffin-like cells. Conclusion. The observed prevalence of AMAG in our study aligns with global averages reported for other populations. The diverse clinical presentations highlight the need for awareness of findings in AMAG in gastric biopsies to ensure appropriate clinical management.

Nutritional status of Saudi obese patients undergoing laparoscopic sleeve gastrectomy, one-year follow-up study.

Bariatric surgery has significantly increased globally as an effective treatment for severe obesity. Nutritional deficits are common among candidates for bariatric surgery, and follow-up of nutritional status is critically needed for post-surgery healthcare management. This observational prospective study was conducted at King Khalid University Hospital in Riyadh. Samples were collected pre- and post-laparoscopic sleeve gastrectomy (LSG), with the visit intervals divided into four visits: pre-surgery (0M), 3 months (3M), 6 months (6M) and 12 months (12M). Food intake and eating patterns significantly changed during the first year (P < 0·001). The mean energy intake at 3M post-surgery was 738·3 kcal, significantly lower than the pre-surgery energy intake of 2059 kcal. Then, it increased gradually at 6M and 12M to reach 1069 kcal (P < 0·00). The intake of Fe, vitamin B12 and vitamin D was below the dietary reference intake recommendations, as indicated by the 24-hour dietary recall. The prevalence of 25 (OH) vitamin D deficiency improved significantly from pre- to post-surgery (P < 0·001). Vitamin B12 deficiency was less reported pre-LSG and improved steadily towards a sufficient post-surgery status. However, 35·7 % of participants were deficient in Fe status, with 28·6% being female at higher levels than males. While protein supplementation decreased significantly over the 12M follow-up, the use of vitamin supplements dramatically increased at 3 and 6M before declining at 12M. Fe and vitamin B12 were the most popular supplements after vitamin D. This study confirms the necessity for individualised dietary plans and close monitoring of candidates' nutritional status before and after bariatric surgery.

Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients

Background: The SNP rs855791 has been linked to increased hepcidin levels, variations in serum iron, transferrin saturation and red blood cell indices. Our goal was to determine the prevalence of this polymorphism among COPD patients and to assess its impact on iron status parameters including hepcidin in patients with stable COPD. Methods: We analysed iron status parameters and genetic data form 94 COPD patient: 29 patients with wild-type genotype (WT group) and 65 patients with either homozygous or heterozygous genotype (HH group). Additionally, the prevalence of SNP rs855791 was assessed in 192 volunteers. Results: The frequency distribution of SNP rs855791 was comparable between the COPD patients and control subjects (p=0.791). Iron status parameters were within their respective reference values and did not show neither statistically nor clinically significant difference between the WT and HH group of COPD patients. However, after excluding patients with (sub)clinical vitamin B12 deficiency and/or hypoxemia, WT group of patients exhibited significantly lower erythropoietin levels (p=0.015). The area under the curve for EPO was 0.688 (95% CI: 0.545-0.830, p=0.015), with an optimal cut-off of 9.74, sensitivity of 61.2% (95% CI: 58.1-64.3) and specificity of 65.0% (95% CI: 61.8-68.3). Conclusion: In patients with stable COPD, iron status parameters do not differ between WT and HH group of patients. After excluding those with (sub)clinical vitamin B12 deficiency and/or hypoxia, only statistical and not clinical difference in EPO levels was observed suggesting that EPO may regulate hepcidin levels and thus influence the development of iron deficiency and/or anaemia.

Can New Advanced Clinical Parameters Be Used in the Diagnosis of Vitamin B12 Deficiency?

The measurement of vitamin B12 levels has low sensitivity for the diagnosis of vitamin B12 deficiency, therefore, clinicians may prefer to decide the deficiency with the patient's clinic. In this study, the diagnostic values of the classical and advanced clinical complete blood count parameters were investigated to find a new marker in the diagnosis of vitamin B12 deficiency. 150 adult volunteers were included in the study and volunteers were divided into two groups according to their vitamin B12 levels (with or without vitamin B12 deficiency) and hemoglobin levels (with or without anemia). The differences and correlations of laboratory test results between groups were examined. Equivalent of reticulocyte hemoglobin, equivalent of erythrocyte hemoglobin and delta-hemoglobin were found significant differences between groups with or without vitamin B12 deficiency. Hypo-hemoglobinised red cells and hyper-hemoglobinised red cells were found significant difference between groups with or without anemia. Significant positive correlations were found between vitamin B12 levels and equivalent of reticulocyte hemoglobin, equivalent of erythrocyte hemoglobin and delta-hemoglobin. Significant positive correlations were found between hemoglobin levels and macrocytic red blood cells, equivalent of reticulocyte hemoglobin, equivalent of erythrocyte hemoglobin, delta hemoglobin and hyper-hemoglobinised red cells; negative correlations with microcytic red blood cells and hypo-hemoglobinised red cells. It is suggested that these advanced clinical parameters of complete blood count analysis may be used to determine vitamin B12 deficiency.

Yttrium-encapsulated fullerene (Y@C80) mono-doping with As, Bi, Sb, and P for the enhanced sensing of methylmalonic acid (MMA) as a biomarker for vitamin B12 deficiency: A DFT study

The development of new approaches or approaches for the detection of methylmalonic acid from biological samples is now necessary for early diagnosis of vitamin B12 deficiency and appropriate treatment. In this study, Yttrium-encapsulated fullerene (Y@C80) doped with arsenic (As), bismuth (Bi), phosphorous (P), and antimony (Sb) was investigated for its ability to sense methylmalonic acid (MMA) as a biomarker using M06-2X/GenECP/def2svp/LanL2DZ method. The nanostructural analysis showed a marginal deviation in the bond lengths between atoms of the structure upon optimization of the structures interacting with the MMA biomarker, which demonstrated the stability of the system for sensing. The HOMO-LUMO reactivity descriptor revealed that the compound was reactive toward the sensing of the MMA biomarker, as the various systems MMA_As_Y@C80, MMA_Bi_Y@C80, MMA_P_Y@C80, and MMA_Sb_Y@C80 demonstrated relatively short energy gaps of 2.039 eV, 2.025 eV, 2.135 eV, and 2.023 eV, respectively. The nanomaterial strongly adsorbed the biomarker, as indicated by the negative adsorption energies of −0.47075 eV, −0.70478 eV, 0.9034 eV, and −0.5388 eV corresponding to MMA_As_Y@C80, MMA_Bi_Y@C80, MMA_P_Y@C80, and MMA_Sb_Y@C80, respectively; however, MMA-P-Y@C80 showed a weaker ability to sense the biomarker. Additionally, the recovery time after the detection of the biomarker was relatively short, comparable to the increase in the adsorption strength, with MMA-Bi-Y@C80 having the shortest recovery time (3.829 × 10−37). This is significant for the development of a highly sensitive and efficient technique for methylmalonic acid (MMA) biomarker sensing.

Impact of Serum Folate and Vitamin B12 on Mental Health in Patient Admitted at Razi Psychiatric Hospital

Vitamin B12 (cobalamin) is one of the essential vitamins that affect various systems in the body, including the central nervous system and plays an important role in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The present study aimed to assessing vitamin B12 &amp; serum folate in patient admitted at Razi psychiatric hospital. A cross section study subjects were inpatients with psychiatric disorder, patients from 21 to 60 years old. In this group of 40 psychiatric patients, there is no evidence of clinically relevant changes in serum vitamin B12 and folate level. Vitamin B12 deficiency can occur despite “normal” serum cobalamin levels; therefore, measuring homocysteine and methyl malonic acid can decrease false-negative findings.

Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 588 patients with oral lichen planus

Background/purposeOur previous study found that 21.9 %, 13.6 %, 7.1 %, 0.3 %, and 14.8 % of 352 oral lichen planus (OLP) patients have anemia, serum iron, vitamin B12, and folic acid deficiencies, and hyperhomocysteinemia, respectively. This study mainly evaluated the anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody (GPCA) positivity in a large group of 588 OLP patients. Materials and methodsThe blood hemoglobin (Hb) and serum iron, vitamin B12, folic acid, homocysteine, and GPCA levels in 588 OLP patients were measured and compared with the corresponding levels in 588 age- and sex-matched healthy control subjects. ResultsWe found that 148 (25.2 %), 99 (16.8 %), 60 (10.2 %), 7 (1.2 %), 124 (21.1 %), and 139 (23.6 %) OLP patients had blood Hb, serum iron, vitamin B12, and folic acid deficiencies, hyperhomocysteinemia, and serum GPCA positivity, respectively. Moreover, 588 OLP patients had significantly higher frequencies of blood Hb and serum iron, vitamin B12, and folic acid deficiencies, hyperhomocysteinemia, and serum GPCA positivity than 588 healthy control subjects (all P-values <0.001 except P = 0.023 for folic acid deficiency). Of 148 anemic OLP patients, 68 had normocytic anemia, 32 had iron deficiency anemia, 19 had thalassemia trait-induced anemia, 17 had pernicious anemia, 7 had macrocytic anemia other than pernicious anemia, and 5 had microcytic anemia other than iron deficiency anemia and thalassemia trait-induced anemia. ConclusionOLP patients have significantly higher frequencies of blood Hb and serum iron, vitamin B12, and folic acid deficiencies, hyperhomocysteinemia, and serum GPCA positivity than healthy control subjects.

Characterisation of patients diagnosed with pernicious anaemia: A first step towards James Lind Alliance Priority Setting Partnership driven research

Pernicious anaemia (PA) is characterised by vitamin B12 deficiency due to autoimmune-mediated loss of gastric parietal cells and intrinsic factor, a specific transporter for the intestinal uptake of vitamin B12. PA is typically managed with lifelong intramuscular hydroxocobalamin injections every 2-3 months. However, this regimen lacks robust scientific validation and fails to account for varied symptomatic responses among patients, with many requiring more frequent injections(1).The Pernicious Anaemia Society (PAS) is a patient-driven charity that identified 10 research priorities for PA through a James-Lind Alliance Priority Setting Partnership(2). PAS members were surveyed to build a PA Research Repository, exploring diagnostics, treatment, family histories, and comorbidities. This project aims to better understand and manage the condition by addressing these priorities and characterising a cohort of patients.An online survey was designed using SurveyMonkey comprising 21 questions to collect data on demographics, mode and timing of PA diagnosis, diagnosed comorbidities, family history of PA or other autoimmune conditions, and management (type, regime and patient satisfaction). All questions were compulsory. The survey was sent to 3,482 PAS members (April-September 2022) via the PAS newsletter, email, and website. Chi-square tests were used to investigate associations between gender and survey responses. The study protocol and procedures received a Favourable Ethical Opinion.Completed surveys were received from 1,191 PAS members (34% response rate). Among these, 971 (81%) had a confirmed PA diagnoses, and the cohort was predominantly UK-based (92%) females (81%) aged 23-90 years, with a wide age of onset (10 to 80 years, mean 49 years). Diagnoses were typically based on low serum B12 (40%), positive intrinsic factor (31%), and/or parietal cell autoantibodies (13%), with 7% diagnosed via the now obsolete Schilling test. Diagnostic delays were common, 39% of participants reported waiting ≥3 years for a diagnosis. Over half (59%) reported other micronutrient deficiencies upon diagnosis. Half reported additional autoimmune diseases, with one-third having family with PA or other autoimmune conditions. Treatment primarily involved hydroxocobalamin intramuscular injections (77%), with 48% following the recommended guidelines and 52% injecting more frequently. Females had higher prevalence rates of Hashimoto’s disease (27% vs 7%), asthma (33% vs 20%), and iron deficiency (49% vs 35%) (all p &lt; 0.05).This survey has established the first-ever PA research repository of over 1,000 participants offering initial insight into the complexities of PA, from varied age-of-onset and familial clustering to diagnostic challenges and treatment variability. These results support the need for improved diagnostic and treatment strategies, supporting the research recommendations made in the recent vitamin B12 deficiency NICE guidelines(3). It also highlights the potential of collaborative research with a patient-driven charity. Collaborative efforts aim to advance patient-centred PA research, improve treatment evaluation, and develop evidence-based approaches to managing this complex condition.

Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency-A Case Report.

Vitamin B12 deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B12 deficiency in our patient, illustrates the usefulness of performing large panel clinical exome sequencing.

Vitamin B12 Deficiency and Hyperhomocysteinemia in Pre-Eclampsia: Assessing Biochemical Markers for Disease Prediction and Therapeutic Potential

Vitamin B12 Deficiency and Hyperhomocysteinemia in Pre-Eclampsia: Assessing Biochemical Markers for Disease Prediction and Therapeutic Potential

The protective effect of vitamin B12 on neuropsychiatric symptoms in dementia-free older adults in a multi-ethnic population

Vitamin B12 deficiency has been associated with neuropsychiatric symptoms (NPS), but the relationship between vitamin B12 and NPS remains unclear prior to the onset of dementia. The study aims to examine the association between vitamin B12 and NPS in dementia-free Asian older adults. This is a cross-sectional population-based study where multi-ethnic community-dwelling Asian participants (i.e. Chinese, Malay, Indian) aged ≥60 years underwent comprehensive neuropsychological and clinical assessments including the examination of clinical history and the collection of blood samples. NPS and subsyndromes were evaluated using the Neuropsychiatric Inventory (NPI). Serum vitamin B12 and homocysteine (Hcy) concentration were measured by competitive immunoassays. To analyse the relationship between vitamin B12 and NPS, hierarchical linear regression, multinomial regression and moderation analyses were performed. A total of 798 dementia-free individuals (age=69.7±6.5 years old, F=408 (51.1%)) were included in the current study. There were 80 (10%) individuals with clinically relevant NPS (i.e. NPI scores ≥4). Higher vitamin B12 was associated with lower NPI total scores (p=0.030) and apathy (p=0.005), after controlling for age, sex, ethnicity, cognitive functioning, socioeconomic status and Hcy concentration. Participants with higher vitamin B12 was also less likely to have clinically relevant apathy (p=0.007). The moderation effect of Hcy and cognitive functioning on the inverse association between vitamin B12 and NPS was observed. A protective effect of vitamin B12 on NPS and subsyndromes was observed in a multi-ethnic Asian cohort of dementia-free individuals. Future longitudinal studies are required to further elucidate the pathophysiological mechanisms between vitamin B12 and NPS in diverse ethnic groups.