Deficiency anaemias

2018 ◽  
Author(s):  
Chris Bunch
Keyword(s):  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Myeloproliferative Disorders ◽  
Gastric Parietal Cell ◽  
Iron Deficient ◽  
B12 Deficiency ◽  
Vitamin B12 Absorption ◽  
Autoimmune Atrophic Gastritis

This chapter addresses the diagnosis, investigation, and management of anaemia due to a deficiency in iron, vitamin B12, or folate. Erythropoiesis requires an adequate supply of iron for haem formation, as well as vitamin B12 and folic acid (folate) to support high levels of DNA synthesis, and a lack of any of these will result in anaemia. Iron-deficient anaemias are typically microcytic, while a deficiency in vitamin B12 or folate results in megaloblastic haemopoiesis and a macrocytic anaemia. Iron deficiency results from poor dietary iron intake, poor absorption, increased demands, blood loss, or combinations of these. The usual cause of severe vitamin B12 deficiency in Western countries is an autoimmune atrophic gastritis, in which there is a loss of gastric parietal cell numbers and an absence of intrinsic factor production, which effectively prevents vitamin B12 absorption. This is the classical pernicious anaemia, and it is often seen in association with other autoimmune disorders. Folate deficiency may result from poor diet, malabsorption, or when demand for folate is increased, for example, during pregnancy, or with increased haemopoiesis in haemolytic anaemias or myeloproliferative disorders.

scholarly journals A Case of Sub-acute Combined Degeneration of the Spinal Cord with Associated Pernicious Anaemia

Pulse ◽  
2014 ◽  
Vol 5 (1) ◽  
pp. 57-60 ◽  
Author(s):  
AA Bhuiyan ◽  
SK Dash ◽  
SMH Shahriar ◽  
F Nahid ◽  
S Arefin
Keyword(s):  
Spinal Cord ◽  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Bone Marrow Examination ◽  
Chronic Atrophic Gastritis ◽  
Endoscopic Biopsy ◽  
B12 Deficiency ◽  
Hands And Feet

Aim and Objective Vitamin B12 deficiency disease, specially associated with pernicious anaemia is a relatively rare disease in the developing countries. Patients with B12 deficiency may present with hematological, gastro-intestinal and neuro-psychiatric manifestations. Here we discuss a case of a fifty five-year-old lady presented with sub-acute combined degeneration of the spinal cord. Case presentation A fifty five year old female was admitted in Neurology ward in Apollo Hospitals, Dhaka from OPD for progressive quadriparesis with tingling in the hands and feet. She had no associated visual, bulbar symptoms, sphincter incontinence or memory impairment. Investigation revealed mild anaemia, macrocytosis on peripheral blood picture, low Vitamin B12 level with megaloblastic changes in bone marrow examination. Anti-Intrinsic factor antibody and anti-parietal cell antibody was not done, as it is not available here. MRI of dorsal spine shows T2 hyper-intense lesions in the posterior cord. GI Endoscopic biopsy revealed chronic atrophic gastritis. Conclusion We presented this case because of its relatively uncommon occurrence in our country. Sub-acute combined degeneration of spinal cord associated with dietary deficiency is common in Indian sub-continent. High index of suspicion is needed for its early diagnosis as delay in treatment can lead to poor neurological recovery. DOI: http://dx.doi.org/10.3329/pulse.v5i1.20193 Pulse Vol.5 January 2011 p.57-60

scholarly journals Congenital Pernicious Anemia with Coexistent Transitory Intestinal Malabsorption of Vitamin B12

Blood ◽  
1967 ◽  
Vol 30 (4) ◽  
pp. 495-502 ◽  
Author(s):  
BEATRICE C. LAMPKIN ◽  
ALVIN M. MAUER
Keyword(s):  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Gastric Fluid ◽  
Intestinal Malabsorption ◽  
Gastrointestinal Series ◽  
Schilling Test ◽  
B12 Deficiency ◽  
Vitamin B12 Absorption

Abstract Pernicious anemia with coexistent transitory intestinal malabsorption of vitamin B12 has been established in adults. In this report a child with congenital pernicious anemia was documented to have had transitory selective intestinal malabsorption of vitamin B12. The diagnosis of congenital pernicious anemia was established by the age of the patient, absence of intrinsic factor in gastric fluid, lack of antibodies to intrinsic factor and parietal cells, presence of HCl in gastric fluid, and normal gastric biopsy. The xylose excretion test, 72-hour fecal fat determination, upper gastrointestinal series, and biopsy of the jejunum were normal, but the Schilling test was abnormal with hog intrinsic factor of known potency on two occasions, indicating selective malabsorption of vitamin B12. Seven months after therapy the Schilling test was still abnormal without intrinsic factor, but was normal with both human and hog intrinsic factor. The normal absorption with intrinsic factor after therapy is indicative that the selective malabsorption which was originally present was probably a consequence of the vitamin B12 deficiency resulting from lack of intrinsic factor. In patients with abnormal radioactive vitamin B12 absorption tests with administration of intrinsic factor, coexistent pernicious anemia must be excluded by demonstration of intrinsic factor in gastric fluid.

scholarly journals P77 Management of vitamin B12 deficiency in primary care during the COVID-19 pandemic: Do all patients need to come in?

BJS Open ◽  
2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Chaitya Desai ◽  
Beno Machado ◽  
Sanjay Kumar ◽  
Chaitya Desai
Keyword(s):  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Full Blood Count ◽  
Nursing Time ◽  
Nice Guidance ◽  
B12 Deficiency ◽  
Appropriate Therapy ◽  
To Come

Abstract Introduction Not all causes of vitamin B12 deficiency require intramuscular hydroxocobalamin (IMH). NICE guidance states that diet-related deficiency can be treated orally, but pernicious anaemia must be excluded via anti-intrinsic factor antibodies (anti-IFAB). Our aim was to audit the management of B12 deficiency during the COVID-19 pandemic when reducing footfall is vital. Then, implement staff education strategies to improve adherence to guidance. Methods Data for patients who received IMH from March-June 2020 was retrospectively analysed for: full blood count (FBC), B12, folate and anti-IFAB levels. These patients were sent letters to have blood tests for the missing investigations. Results were presented at meetings and flowchart-posters were distributed. Audit was closed with prospective data for patients who requested IMH from September-October 2020. Results From 46 patients identified, 82.6% had B12 and folate checked prior to therapy commencement, but 23.7% had an untreated folate deficiency. 79.3% of patients receiving IMH had never been tested for anti-IFAB; none of those tested were positive. A lack of awareness of the NICE guidance was identified as a key cause for non-adherence. Following the intervention, all 34 patients were appropriately investigated. Out of these, 8.8% had positive anti-IFAB levels and following a review of their clinical histories, all patients were commenced on appropriate therapy. Discussion IMH can have great benefit; but it is invasive, has financial and nursing-time implications, and increases the risk of contagion via footfall in the practice. Thus, this multi-cycle audit shows that appropriate investigations prior to commencing therapy is key.

scholarly journals Methylcobalamine (Vitamin B12): Water Soluble Vitamin with Various Pharmacological Aspect

2021 ◽  
Vol 11 (1) ◽  
pp. 130-137
Author(s):  
Roopesh Kumar Yadav ◽  
Sudhanshu Mishra ◽  
Deepti Jain
Keyword(s):  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Water Soluble ◽  
Oral Dosage ◽  
Therapeutic Effects ◽  
Water Soluble Vitamin ◽  
B12 Deficiency

Vitamin B12 is a water-soluble vitamin that plays a key role in the brain's proper functioning and nervous system, in blood flow, and in reducing weakness and tiredness. In their food, most people get adequate vitamin B12, but in some health conditions (e.g. inadequate sleep, stomach/intestinal disorders, inflammation, cancer), there could be a shortage. If left unchecked, severe Vitamin B12 deficiency results in anemia and nerve damage. Vitamin B12 deficiency is typically treated using parenteral and oral dosage formulations, but absorption and compliance problems are involved with these routes of administration. Most significantly, the function of this missing intrinsic factor has been shown to assist in vitamin B12 absorption and a deficiency known as pernicious anaemia. Vitamin B12 is only partially absorbed when delivered by mouth to patients with pernicious anemia, but hematologically re-absorbed in patients with pernicious anemia. Parenteral administration of the extrinsic element will treat pernicious anaemia satisfactorily. There are several roles and advantages of vitamin B 12 in the human body with therapeutic effects also. Keywords: Water Soluble Vitamins, Methylcobalamine, Vitamin B12, Pernicious Anaemia.

scholarly journals A Case of Subacute Combined Degeneration as a Manifestation of Pernicious Anaemia

EMJ Neurology ◽  
2021 ◽  
pp. 77-80
Author(s):  
Marta Arriaga Rocha ◽  
Martim Trovão Bastos ◽  
Joana Mauríco ◽  
Susana Heitor
Keyword(s):  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Chronic Atrophic Gastritis ◽  
Subacute Combined Degeneration ◽  
Limb Weakness ◽  
Multiple Systems ◽  
B12 Deficiency ◽  
Bilateral Lower Limb

Vitamin B12 deficiency affects multiple systems, including the central and peripheral nervous systems, producing a vast spectrum of neurological symptoms. It is particularly important due to its insidious presentation and because it can evolve to spastic paraplegia with permanent sequelae. The authors describe a case of a woman with asthenia, bilateral lower limb weakness, urinary retention, and faecal incontinence, with no structural cause on imaging studies. Blood tests showed anaemia (haemoglobin: 6.8 g/dL) and vitamin B12 deficiency (<100 pg/mL). After upper digestive endoscopy compatible with chronic atrophic gastritis and positive for anti-intrinsic factor antibodies was obtained, the diagnosis of subacute combined degeneration due to vitamin B12 deficiency in the context of pernicious anaemia was admitted. Although this entity is a rare cause of myelopathy, it is a frequent manifestation of vitamin B12 deficiency. Clinical suspicion is fundamental since the reversibility of the neurological lesion is dependent on early treatment.

scholarly journals Pernicious Anaemia with Normal Vitamin B12

2019 ◽  
Author(s):  
Joao Galaz Tavares ◽  
Bernardo Baptista ◽  
Bebiana Gonçalves ◽  
Alexandra Bayão Horta
Keyword(s):  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Low Grade ◽  
Macrocytic Anaemia ◽  
Normal Vitamin ◽  
B12 Deficiency ◽  
Diagnostic Work ◽  
Work Up

A 49-year-old female patient presented to our hospital with asthenia, odynophagia, low grade fever, worsening symptoms of chronic depression, and symmetric leg paresthesias. Investigations showed macrocytic anaemia, leucopenia, thrombocytopenia, high lactate dehydrogenase levels and a normal Coombs test. Trilineage dysplasia was detected in the bone marrow biopsy specimen. The diagnostic work-up led us to the diagnosis of pernicious anaemia with a spuriously normal value of vitamin B12 and high titres of anti-intrinsic factor autoantibodies. This case highlights the importance of considering vitamin B12 deficiency in the differential diagnosis of myelodysplasia, even when vitamin B12 levels seem to be normal.

The Danger of B12 Deficiency in the Elderly

1998 ◽  
Vol 12 (4) ◽  
pp. 215-226 ◽  
Author(s):  
Margaret Wynn ◽  
Arthur Wynn
Keyword(s):  
Nervous System ◽  
Risk Factor ◽  
Heart Disease ◽  
Vitamin B12 ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
The Elderly ◽  
Nerve Cells ◽  
Accelerated Ageing ◽  
B12 Deficiency

Vitamin B12 deficiency damages nerve cells and aggravates nervous system disorders even in the absence of evidence of anaemia. Prevalence of B12 deficiency increases with age especially over 65 and is frequently associated with Alzheimer's disease. Recent American surveys record a higher prevalence of B12 deficiency and of undiagnosed and untreated pernicious anaemia in the elderly than reported earlier. B12 deficiency is also reported to be a risk factor for heart disease, stroke and accelerated ageing.

scholarly journals The Level of Serum Pepsinogen in Diagnosing and Evaluating the Severity of Subacute Combined Degeneration Due to Vitamin B12 Deficiency

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaoyan Chen ◽  
Rong Wang ◽  
Xusheng Huang ◽  
Fei Yang ◽  
Shengyuan Yu
Keyword(s):  
Vitamin B12 ◽  
Neurological Complication ◽  
Vitamin B12 Deficiency ◽  
Inverse Correlation ◽  
Cobalamin Deficiency ◽  
Serum Pepsinogen ◽  
Roc Curve Analysis ◽  
Subacute Combined Degeneration ◽  
B12 Deficiency ◽  
Autoimmune Atrophic Gastritis

Subacute combined degeneration (SCD) is a neurological complication of cobalamin deficiency, which is usually caused by chronic autoimmune atrophic gastritis. Serum pepsinogen 1 and the ratio of pepsinogen 1/pepsinogen 2 (PG1/2) can reflect the severity of gastric atrophy.Objective: This work aims to investigate whether decreased serum PG1 and PG1/2 ratio are helpful in diagnosing SCD and reflecting the severity of SCD.Methods: We retrospectively analyzed the clinical and laboratory tests of 65 cases of SCD due to vitamin B12 deficiency and compared the laboratory parameters of SCD with 65 age- and sex-matched amyotrophic lateral sclerosis (ALS) patients.Results: PG1 and PG1/2 ratio were decreased in 80 and 52.3% of SCD patients, respectively. Compared to patients with PG1/2 ratio ≥3.0, patients with PG1/2 ratio &lt;3.0 had more severe anemia, larger mean corpuscular volume (MCV), lower level of vitamin B12, higher folate and homocysteine (Hcy), more severe changes in somatosensory evoked potential (SEP), and higher rate of lesions in spinal MRI (P &lt; 0.05). PG1 and PG1/2 ratio had inverse correlation with MCV and N20 latency in SEP examination (P &lt; 0.05). PG1/2 ratio, RBC count, and Hcy were independent risk factors for SCD in logistic regression analyses. The ROC curve analysis revealed that the diagnostic accuracy of PG1 and PG1/2 ratio was 72.2 and 73.0%, respectively, while the cutoff values were 22.4 ng/ml and 2.43 for SCD, respectively.Conclusions: Decreased PG1 and PG1/2 ratio are helpful for the diagnosis and evaluation of the severity of SCD due to vitamin B12 deficiency.

The Effect of Vitamin B12 Deficiency on Methylfolate Metabolism and Pteroylpolyglutamate Synthesis in Human Cells

1974 ◽  
Vol 47 (6) ◽  
pp. 617-630
Author(s):  
A. Lavoie ◽  
E. Tripp ◽  
A. V. Hoffbrand
Keyword(s):  
Folic Acid ◽  
Vitamin B12 ◽  
Direct Effect ◽  
Vitamin B12 Deficiency ◽  
Pernicious Anaemia ◽  
Normal Subjects ◽  
Normal Cells ◽  
Methyl Group ◽  
Consistent Effect ◽  
B12 Deficiency

1. The uptake of 14C from [methyl-14C]methyItetrahydrofolate was significantly reduced in the phytohaemagglutinin (PHA)-stimulated lymphocytes from nine patients with untreated pernicious anaemia compared with the uptake in seven normal subjects. 2. The uptake of 14C from [14C]methyltetrahydrofolate by the lymphocytes from seven of the patients with pernicious anaemia was consistently increased by addition of vitamin B12in vitro. 3. The proportion of 14C taken up from [14C]methyltetrahydrofolate transferred to non-folate compounds was found to be significantly reduced in the PHA-stimulated lymphocytes from nine patients with untreated pernicious anaemia compared with the proportion transferred in the PHA-stimulated lymphocytes from seven normal subjects. Addition of vitamin B12in vitro consistently increased the transfer in vitamin B12-deficient cells but had no consistent effect in normal cells. 4. Normal and vitamin B12-deficient PHA-stimulated lymphocytes took up [3H]folic acid and after 72 h incubation converted this largely into pteroylpolyglutamate forms. 5. The proportion of labelled lymphocyte folate as pteroylpolyglutamate after incubation with [3H]folic acid was the same in vitamin B12-deficient as in normal lymphocytes and the proportion of pteroylpolyglutamates formed in vitamin B12-deficient lymphocytes was unaffected by addition of vitamin B12in vitro. 6. No radioactivity could be decteted in pteroylpolyglutamates after incubating normal PHA-stimulated lymphocytes with [14C]methyltetrahydrofolate for 72 h, suggesting that pteroylpolyglutamate forms of folate cannot be made directly from methyltetrahydrofolate. 7. These results are consistent with the ‘methyltetrahydrofolate trap’ hypothesis in vitamin B12 deficiency. It is suggested that reduced synthesis of pteroylpolyglutamates reported by others in vitamin B12-deficient cells may be secondary to the failure of removal of the methyl group from methyltetrahydrofolate rather than to a direct effect of vitamin B12 deficiency on the enzyme responsible for pteroylpolyglutamate synthesis. 8. Reduced entry of methyltetrahydrofolate into vitamin B12-deficient cells may be secondary to failure of conversion of this compound into tetrahydrofolate.

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