8,463 results match your criteria Anemia Megaloblastic

A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.

J Pediatr Hematol Oncol 2021 May 31. Epub 2021 May 31.

Departments of Pediatrics Pathology Pediatrics and Prevention Genetics LLC Pediatric Hematology-Oncology Pediatric Intensive Care Unit, Marshfield Children's Hospital, Marshfield Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.

Imerslund-Gräsbeck syndrome is an autosomal recessive disorder of vitamin B12 malabsorption presenting with megaloblastic anemia and mild proteinuria in childhood. The disorder is caused by biallelic pathogenic variants in the CUBN or AMN genes, which encode proteins involved in B12 absorption. We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers. Read More

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Hemorrhagic manifestation in different etiologies of pancytopenia: A prospective, cross-sectional study.

J Family Med Prim Care 2021 Feb 27;10(2):804-808. Epub 2021 Feb 27.

Department of Pharmacology, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India.

Background: Pancytopenia is a triage of anemia, leukopenia, and thrombocytopenia. The etiology causing pancytopenia varies depending upon factors such as age, sex, occupation, and geographical distribution. Unfortunately, the major treatises of hematology have not given emphasis on the hemorrhagic manifestation of different etiologies causing pancytopenia. Read More

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February 2021

Pernicious anaemia: cause of recurrent cerebral venous thrombosis.

BMJ Case Rep 2021 May 10;14(5). Epub 2021 May 10.

Baroda Medical College, Vadodara, Gujarat, India.

This case of recurrent cerebral venous thrombosis (CVT) highlights hyperhomocysteinemia in pernicious anemia due to vitamin B deficiency. No other risk factors such as trauma, infections, coagulation disorders or autoimmune diseases were present. The patient was cured with vitamin B and anticoagulation therapy. Read More

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Use of hyperbaric oxygenation as an adjunctive treatment for severe pernicious anaemia in a bloodless medicine patient.

BMJ Case Rep 2021 Apr 12;14(4). Epub 2021 Apr 12.

Bloodless Medicine and Surgery Program, MedStar Georgetown University Hospital, Washington, DC, USA.

Severe anaemia in patients who cannot receive blood transfusion is an indication for the use of hyperbaric oxygen therapy (HBO). Most reports of the use of HBO for anaemia involve patients with acute blood loss. This report details a case of HBO used for a patient with severe pernicious anaemia. Read More

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Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Front Pediatr 2021 19;9:630329. Epub 2021 Mar 19.

Caihong Hospital, Xianyang, China.

Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in . Some cases show familial inheritance. A female patient (from a gravida 1, para 1 mother) of 3. Read More

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Rapid Development of Pernicious Anemia Unmasking Underlying Gastric Adenocarcinoma.

Cureus 2021 Mar 1;13(3):e13630. Epub 2021 Mar 1.

Hematology/Oncology, Mercy Catholic Medical Center, Darby, USA.

Gastric cancer is one of the most common malignancies, often detected at later stages as patients remain asymptomatic until later stages. Pernicious anemia (PA), a well-known cause of vitamin B12 deficiency, is a classic risk factor for gastric cancer. Patients with PA usually present with megaloblastic anemia and peripheral neuropathy; however, they can also present with nonspecific symptoms. Read More

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[Extra hospital use of nitrous oxide for recreational purposes].

Rev Prat 2020 Dec;70(10):1143-1149

Service des urgences du CUB, hôpital Erasme, Bruxelles, Belgique.

Extra hospital use of nitrous oxide. FOR RECREATIONAL PURPOSESThe problematic recreational consumption of nitrous oxide is increasing in the adolescent population and its harms are little publicized and / or trivialized. This therefore represents a public health issue. Read More

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December 2020

Cutaneous hyperpigmentation and megaloblastic anemia as manifestations of gastric syphilis.

Int J Dermatol 2021 Mar 14. Epub 2021 Mar 14.

Departamento de Dermatologia e Radioterapia, FMB-UNESP, Botucatu, Brazil.

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Sub-internal limiting membrane haemorrhage following pancytopenia in megaloblastic anemia.

Clin Exp Optom 2021 Mar 1:1-3. Epub 2021 Mar 1.

Department of Ophthalmology, Lady Hardinge Medical College and Associated SSKH and KSC Hospital, University of Delhi, New Delhi, India.

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Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.

Ital J Pediatr 2021 Mar 8;47(1):54. Epub 2021 Mar 8.

Department of Cardiovascular, Respiratory, Nephrology, Anesthesiology and Geriatric Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.

Background: Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy.

Case Presentation: We describe the case of a 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B metabolism. Family history revealed a sister who died at the age of 3 months with a similar clinical syndrome and with pancytopenia. Read More

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The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.

AAPS J 2021 03 1;23(2):35. Epub 2021 Mar 1.

Department of Bioengineering and Therapeutic Sciences, University of California at San Francisco, San Francisco, California, 94158, USA.

A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter. The study objectives were to (1) functionally characterize selected TRMA-associated SLC19A2 variants and (2) determine whether current prescription drugs associated with drug-induced MA (DIMA) may act via inhibition of SLC19A2. Functional characterization of selected SLC19A2 variants was performed by confocal microscopy and isotopic uptake studies of [3H]-thiamine in HEK293 cells. Read More

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Enteral Vitamin B12 Supplementation Is Effective for Improving Anemia in Patients Who Underwent Total Gastrectomy.

Oncology 2021 18;99(4):225-233. Epub 2021 Feb 18.

Department of Surgery, Kochi Medical School, Nankoku, Japan.

Background: This study aimed to investigate the efficacy of enteral supplementation of vitamin B12 for vitamin B12 deficiency in patients who underwent total gastrectomy for gastric cancer.

Methods: The study enrolled 133 patients who underwent total gastrectomy for gastric cancer at Kochi Medical School. Clinical data were obtained to investigate associations between vitamin B12 supplementation and vitamin B12 levels. Read More

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Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report.

BMC Rheumatol 2021 Feb 12;5(1). Epub 2021 Feb 12.

Department of Internal Medicine, WellStar Atlanta Medical Center, Atlanta, GA, USA.

Background: Low dose methotrexate toxicity rarely occurs, but may present with severe complications, such as pancytopenia, hepatotoxicity, mucositis, and pneumonitis. Known risk factors for methotrexate toxicity include dosing errors, metabolic syndrome, hypoalbuminemia, renal dysfunction, lack of folate supplementation, and the concomitant use of drugs that interfere with methotrexate metabolism. Vitamin B12 deficiency leads to megaloblastic anemia and may cause pancytopenia, but its role in methotrexate toxicity has not been described. Read More

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February 2021

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.

Clin Chim Acta 2021 May 9;516:157-168. Epub 2021 Feb 9.

Department of Pediatric Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China; Department of Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China. Electronic address:

Background And Aims: Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we present the case of a Chinese infant with two novel variants segregating in compound heterozygous form in SLC19A2 and reviewed genotype-phenotype associations (GPAs) in patients with TRMA.

Materials And Methods: Whole-exome sequencing was performed to establish a genetic diagnosis. Read More

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Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.

Int J Lab Hematol 2021 Jan 25. Epub 2021 Jan 25.

Genetic and developmental Medicine Department, Sultan Qaboos University Hospital, Muscat, Oman.

Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal-recessive disorder characterized by selective vitamin B12 malabsorption, megaloblastic anemia, and proteinuria. The precise incidence of this disorder is unknown in the Middle East and Arab countries. The disease is caused by a homozygous variant in either AMN or CUBN genes. Read More

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January 2021

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase () mutation.

Mol Genet Metab Rep 2021 Mar 9;26:100703. Epub 2021 Jan 9.

Department of Pediatrics, Division of Metabolic Genetics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.

Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase () gene. To date, only about twenty patients have been described. Read More

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Could high serum folate be associated with adverse effects?

Iran J Basic Med Sci 2020 Dec;23(12):1499-1500

Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Folate is an important water-soluble vitamin that is presented naturally in foods in particular vegetables, fruits, and whole grains. To which extent is this vitamin needed in our daily regimen is not fully known. Several studies have indicated that many complications, such as megaloblastic anemia, cardiovascular disease, neural tube defects, and numerous cancers, occur in humans when the body becomes deficient in folic acid. Read More

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December 2020

Combined sclerosis of the spinal cord revealing Biermer's anemia: about a case.

Tunis Med 2020 Dec;98(12):1042-1045

Biermer's anemia is an auto immune disease that can lead to neurological manifestations. Medullary combined sclerosis accounts for only 10% of neurological complications. There are few reports of documented bone marrow involvement by magnetic resonance imaging (MRI). Read More

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December 2020

Megaloblastic Anaemia.

Michael Bennett

J R Coll Physicians Edinb 2020 12;50(4):456-461

Retired Consultant Haematologist.

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December 2020

A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report.

BMC Pediatr 2021 01 18;21(1):41. Epub 2021 Jan 18.

Colombo North Teaching Hospital, Ragama, Sri Lanka.

Background: Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B deficiency and proteinuria.

Case Presentation: A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. Read More

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January 2021

Sex Differences in Folate Levels: A Cross Sectional Study of a Large Cohort from Israel.

Isr Med Assoc J 2021 Jan;23(1):17-22

Department of Medicine F, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

Background: Low folate levels are associated with megaloblastic anemia, neural tube defects, and an increased risk of cancer. Data are scarce regarding the sex aspect of this deficiency.

Objectives: To assess sex differences in folate levels in a large cohort of patients and to investigate the effect of low folate levels on homocysteine concentrations. Read More

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January 2021

Neonatal Diabetes Mellitus: Novel Mutations.

Indian J Pediatr 2021 Jan 7. Epub 2021 Jan 7.

Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

Objective: To describe the spectrum of neonatal diabetes mellitus (NDM), document new mutations, and review published Indian literature on the etiology of NDM.

Methods: Retrospective analysis of the clinical and genetic profile of 12 NDM patients.

Results: Eight patients presented with NDM before the age of 6 mo. Read More

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January 2021

Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries.

Can J Diabetes 2020 Nov 23. Epub 2020 Nov 23.

Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.

Objectives: To describe clinical presentation and long-term outcomes in a large cohort of children diagnosed with thiamine-responsive megaloblastic anemia (TRMA)-related diabetes.

Methods: Data from the Diabetes Patienten Verlaufsdokumentation (DPV) and Better control in Pediatric and Adolescent diabeteS: Working to crEate CEnTers of Reference (SWEET) registries were used to identify cases. Complementary information was collected through a chart review of each case. Read More

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November 2020

[Cancer or vitamin B12 deficiency? Difficult differential diagnosis in elderly].

Pol Merkur Lekarski 2020 Dec;48(288):446-448

Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland.

Vitamin B12 deficiency anaemia in adults is usually caused by Addison- Biermer's disease. The presence of antibodies against gastric parietal cells and intrinsic factor (IF) in blood is typical for the disease. The gastrointestinal malabsorption or a diet poor in vitamin B12 are rarer causes. Read More

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December 2020

Case Report: Simultaneously diagnosed gastric adenocarcinoma and pernicious anemia - a classic association.

F1000Res 2020 15;9:604. Epub 2020 Jun 15.

Cancer Center of Kansas, Wichita, KS, 67214, USA.

Primary gastric cancer remains one of the most prevalent malignancies worldwide. Often patients remain asymptomatic until it is detected at an advanced stage with a poor prognosis. Thus, it's characteristically difficult to initially diagnose until it becomes late stage, at which point prognosis becomes poor. Read More

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Severe Malnutrition and Anemia Are Associated with Severe COVID in Infants.

J Trop Pediatr 2021 01;67(1)

Department of Pediatrics, B.J. Government Medical College, Pune, India.

Background: COVID-19 is uncommon and less severe in children than adults. It is thought that infants may be at higher risk for severe disease than older children. There is a paucity of literature on infants with COVID, particularly those with severe disease. Read More

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January 2021

Pure erythroid leukemia.

Clin Case Rep 2020 Nov 18;8(11):2286-2288. Epub 2020 Sep 18.

Division of Hematology and Medical Oncology Department of Internal Medicine University of Michigan Ann Arbor Michigan.

The diagnosis of pure erythroid leukemia (PEL) can be challenging. Prompt identification of CD45+, CD34-, CD71+, CD117+, and E-cadherin+ erythroblasts is important. The differential diagnosis is broad and includes megaloblastic anemia. Read More

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November 2020

Frequency and Etiology of Pancytopenia in Patients Admitted to a Tertiary Care Hospital in Karachi.

Cureus 2020 Oct 20;12(10):e11057. Epub 2020 Oct 20.

Internal Medicine, The Indus Hospital, Karachi, PAK.

Introduction Pancytopenia is an important hematologic problem encountered frequently in clinical practice characterized by a reduction in all three peripheral blood cell lineages, i.e., anemia, leucopenia, and thrombocytopenia, caused by myriad disease processes. Read More

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October 2020

Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Pan Afr Med J 2020 10;35(Suppl 2):139. Epub 2020 Aug 10.

Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 19-year-old man known for TRMA, who presented in the emergency department with bicytopenia (haemoglobin 5,4 g/dL, thrombocytes 38×10/L) revealed by dyspnea and chest pain. Read More

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November 2020