Unmasking Vitamin B12 Deficiency Misdiagnosed as Myelodysplastic Syndrome.

Pancytopenia is characterized by a decrease in all three types of blood cells. Instead of being a standalone disease, it acts as a common outcome resulting from various factors, including infections, autoimmune disorders, genetic issues, nutritional deficiencies, and malignancies. Pinpointing the root cause of pancytopenia poses a challenge but is essential for devising an effective treatment plan and predicting the likely prognosis.

Etiological Spectrum of Bone Marrow Biopsy in Patients With Pancytopenia.

Background Pancytopenia is defined as a decrease in all three hematologic cell lines. The condition is not a disease in itself but a common pathway caused by various etiologies that can be infectious, autoimmune, genetic, nutritional, and/or malignant. Determining the cause of pancytopenia is a challenge and is key in determining the proper treatment regimen and estimating prognosis.

Neuroprotective Effects of Folic Acid: A Review.

Folic acid also known as folate and vitamin B9 is of the class of B complex vitamins. It is crucial for homeostatic function of the biological system and is not endogenously produced. It is medically approved for the treatment of megaloblastic anemia.

Physiology of vitamin B12: a study on its molecular mechanisms using a Caenorhabditis elegans model.

Vitamin B12 (B12) is a water-soluble substance that is a member of the B-vitamin family. Its recommended daily dose in adult men and women is 2.4 µg, which is the lowest among the 13 vitamins.

Comparative bioavailability study of supplemental oral Sucrosomial vs. oral conventional vitamin B12 in enhancing circulatory B12 levels in healthy deficient adults: a multicentre, double-blind randomized clinical trial.

Background: Vitamin B12 is essential for neurological function, red blood cell formation, and DNA synthesis. Deficiency can lead to diverse health conditions, including megaloblastic anemia and neurological issues. Oral supplementation is a standard treatment for B12 deficiency.

A Comprehensive Analysis of Clinical Presentations, Laboratory Findings, and Etiologies of Pancytopenia: A Tertiary Care Experience.

Background Pancytopenia, while a common manifestation of a multitude of diseases, remains a relatively lesser-researched topic, especially in developing countries. Its management depends largely on identifying the etiology, which can range from simple infections to more sinister causes like leukemia. This study aims to investigate the clinical presentations, hematological findings, and etiologies of pancytopenia in a developing country.

Clinical characteristics of megaloblastic anemia with pancytopenia.

Objectives: In this study, we aimed to explore the clinical characteristics of patients with megaloblastic anemia and pancytopenia.

Methods: Data on patient characteristics, laboratory examinations, clinical manifestations, and associated diseases were collected from Changzhou Hospital of Traditional Chinese Medicine. The participants were divided into two groups according to routine blood test results: megaloblastic anemia patients with pancytopenia (Group A) and megaloblastic anemia patients with simple anemia (Group B).

Biermer's disease unveiled: Bilateral macular hemorrhage as a rare manifestation-A case report.

The patient, a 30-year-old woman, presented with a sudden, painless, and severe decrease in vision in both eyes. The ophthalmological examination revealed a normal anterior segment and intraocular pressure, but a fundus examination showed bilateral macular hemorrhage. In the absence of a known history, a metabolic and hematological biological assessment was conducted.

Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia.

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient.

Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.

Background: Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless (AMN) gene that causes IGS syndrome and underscores the importance of long-term oral vitamin B12 replacement therapy in managing the condition.

Case Presentation: In this retrospective analysis, we present the clinical data of a 3-year and 6-month-old female child diagnosed with IGS at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China, in November 2018.

Clinical and hematological profile of patients with pancytopenia at a tertiary medical center in Ethiopia.

Background: Pancytopenia is an important hematological problem encountered in routine clinical practice associated with a multitude of disease states. The possible causes of pancytopenia can be influenced by geography, socioeconomic conditions, and endemic illnesses. Information regarding the underlying clinical conditions and morphologic features of blood cells of pancytopenia is limited and varied across different regions.

A Case of False Insulin Test Results Due to the Megaloblastic Anemia.

Background: Megaloblastic anemia is a subtype of anemia with increased red blood cell volume. These megaloblastic cells can be easily destroyed in the bone marrow and spleen, leading to ineffective hematopoiesis. Insulin-degrading enzymes (IDE) in erythrocytes can break down the insulin into amino acid fragments; thus, when hemolysis occurs, IDE can be released into the blood, resulting in low insulin measurement values.