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International Journal of Laboratory... Apr 2022In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be... (Review)
Review
In this review of megaloblastic anemia (MA), an overview of vitamin B and folate body requirements, biochemical pathways, and laboratory testing strategies will be provided. However, the focus of this review is the classic and unique features of MA in blood and bone marrow. Acquired MA is a benign disorder for many, but can be detrimental for some. The clinical presentation can vary considerably, and the spectrum of symptoms and signs is diverse and quite broad. Prompt recognition and therapy are critical to prevent potential irreversible damage and clinical sequelae, especially in patients with vitamin B deficiency. A delay in diagnosis of vitamin B deficiency can result in significant neurologic sequelae that may not fully resolve with treatment, including in neonates and young infants. The blood and bone marrow features in MA can closely mimic thrombocytopenic purpura, myelodysplasia, and other myeloid neoplasms. Both pancytopenia and normal MCV at presentation are common in MA and raise unique challenges for the diagnostician. Partially treated MA is also a significant diagnostic "trap". MA is highly responsive to treatment, and patients tend to improve rapidly upon treatment initiation. However, the broad range of clinical and hematologic features makes the rapid, successful diagnosis of MA a unique challenge for the hematopathologist. Even in the era of state-of-the-art laboratory testing, a high suspicion is required.
Topics: Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 34981651
DOI: 10.1111/ijlh.13789 -
European Journal of Case Reports in... 2021Before the development of transfusion medicine, severe anaemia was an important cause of morbidity and mortality. The discovery of haematopoietic mechanisms and...
UNLABELLED
Before the development of transfusion medicine, severe anaemia was an important cause of morbidity and mortality. The discovery of haematopoietic mechanisms and essential nutrients made it possible to easily treat and prevent this condition. Nevertheless, it is often fatal in patients presenting with extreme anaemia (haemoglobin levels <2 g/dl). We report the rare case of a 54-year-old woman who presented with profound megaloblastic anaemia (haemoglobin of 1.7 g/dl) due to vitamin B12 deficiency, and was successfully treated.
LEARNING POINTS
The discovery of vitamin B12 in the 20th century led to the successful and easy treatment of thousands of patients with anaemia.Focus on patient adherence to treatment and medical advice is essential in order to manage chronic conditions such as post-gastrectomy nutritional deficiencies.Extreme anaemia is very rare and associated with high mortality; treatment should be tailored to acute or chronic anaemia and in cases where haemodynamic stability is guaranteed, a restrictive blood transfusion strategy should be considered to reduce the risk of complications.
PubMed: 33869097
DOI: 10.12890/2021_002357 -
Diagnostics (Basel, Switzerland) Nov 2021This article summarizes and systematizes the available data from the literature on chronic autoimmune gastritis (CAG) in order to increase the awareness of specialists... (Review)
Review
This article summarizes and systematizes the available data from the literature on chronic autoimmune gastritis (CAG) in order to increase the awareness of specialists about the modern possibilities for diagnosing the disease, including its early stages. The clinical manifestation of the disease includes possible variants such as gastrointestinal, hematological (first of all, the formation of iron deficiency and B12-deficiency anemia), and neurological variants. Patients with chronic autoimmune gastritis are characterized by comorbidity with other autoimmune diseases. In this paper, data on the most informative serological markers for the diagnosis of CAG, as well as laboratory tests to detect micronutrient deficiencies, information on the characteristic changes in the gastric mucosa, and the prognosis of the disease, are presented. The diagnosis of CAG should be based on a multidisciplinary approach that combines a thorough analysis of a patient's complaints with a mandatory assessment of nutritional status, as well as the results of serological, endoscopic, and histological research methods.
PubMed: 34829460
DOI: 10.3390/diagnostics11112113 -
The Journal of the Royal College of... Dec 2020
Topics: Anemia, Hemolytic; Anemia, Megaloblastic; Folic Acid; Humans; Purpura, Thrombotic Thrombocytopenic; Vitamin B 12
PubMed: 33469636
DOI: 10.4997/JRCPE.2020.430 -
BMJ (Clinical Research Ed.) Apr 2020
Topics: Anemia, Pernicious; Attention; Erythrocyte Indices; Fatigue; Humans; Hydroxocobalamin; Injections, Intramuscular; Missed Diagnosis; Peripheral Nervous System Diseases; Vitamin B 12 Deficiency; Vitamin B Complex
PubMed: 32332011
DOI: 10.1136/bmj.m1319 -
The National Medical Journal of India 2023We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her...
We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.
Topics: Humans; Female; Anemia, Megaloblastic; Adult; Thiamine; Thiamine Deficiency; Membrane Transport Proteins; Mutation; Vitamin B Complex; Diabetes Mellitus; Hearing Loss, Sensorineural
PubMed: 38759983
DOI: 10.25259/NMJI_20_21 -
Current Opinion in Clinical Nutrition... Jul 2020Genome instability has long been implicated as a primary causal factor in cancer and diseases of aging. The genome is constantly under attack from extrinsic and... (Review)
Review
PURPOSE OF REVIEW
Genome instability has long been implicated as a primary causal factor in cancer and diseases of aging. The genome is constantly under attack from extrinsic and intrinsic damaging agents. Uracil misincorporation in DNA and its repair is an intrinsic factor resulting in genomic instability and DNA mutations. Additionally, the presence of uracil in DNA can modify gene expression by interfering with promoter binding and transcription inhibition or upregulation of apoptotic proteins. In immune cells, uracil in DNA drives beneficial genomic diversity for antigen-driven immunity. This review addresses diseases that are linked to uracil accumulation in DNA, its causes, consequences, and the associated biomarkers of risk factors.
RECENT FINDINGS
Elevated genomic uracil is associated with megaloblastic anemia, neural tube defects, and retroviral immunity. Current evidence supporting causal mechanisms and nutritional interventions that rescue impaired pathways associated with uracil accumulation in DNA are summarized in this review.
SUMMARY
Nutritional deficiencies in B vitamins can cause uracil misincorporation into DNA leading to genome instability and associated diseases. Nutritional approaches to preventing uracil accumulation in DNA show some promise to address its associated diseases, but additional randomized controlled trials are needed.
Topics: DNA; DNA Repair; Deoxyuracil Nucleotides; Genetic Markers; Genomic Instability; Humans; Nutritional Physiological Phenomena; Risk Factors; Uracil; Vitamin B Deficiency
PubMed: 32398439
DOI: 10.1097/MCO.0000000000000660 -
Indian Journal of Pathology &... 2023β-thalassemia trait is usually diagnosed by raised hemoglobin A (HbA). The presence of megaloblastic anemia can cause an increase in HbA and create a diagnostic...
CONTEXT
β-thalassemia trait is usually diagnosed by raised hemoglobin A (HbA). The presence of megaloblastic anemia can cause an increase in HbA and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin B12 and folic acid supplementation on HbA and diagnosis of β-thalassemia trait in cases of megaloblastic anemia with raised HbA.
MATERIALS AND METHODS
Cases of megaloblastic anemia with raised HbA on high-performance liquid chromatography (HPLC) were supplemented with vitamin B12 and folic acid. Post-treatment evaluation was done after 2 months. Cases showing adequate hematological response were subjected to statistical analysis. Based on post-treatment HbA value, the cases were diagnosed as normal, borderline raised HbA, or β-thalassemia trait. Pre- and post-treatment values of red cell parameters and HbA were analyzed.
RESULTS
There was a significant decrease in HbA value after vitamin B12 and folic acid supplementation. The diagnosis was changed in 70.97% of the cases after treatment. The chance of inconclusive diagnosis was decreased from more than 50% to less than 10%. Pre-treatment mean corpuscular volume (MCV) and HbA% showed a significant difference between the thalassemic and normal groups.
CONCLUSIONS
Megaloblastic anemia can lead to false-positive diagnosis of β-thalassemia trait on HPLC. Repeat HPLC should be done after adequate supplementation of vitamin B12 and folic acid in cases of megaloblastic anemia with raised HbA. Red cell parameters are not helpful to suspect β-thalassemia trait in presence of megaloblastic anemia. However, HbA% on HPLC can be a useful parameter to suspect or exclude β-thalassemia trait in cases of megaloblastic anemia.
Topics: Humans; beta-Thalassemia; Hemoglobin A2; Anemia, Megaloblastic; Vitamin B 12; Folic Acid
PubMed: 37077076
DOI: 10.4103/ijpm.ijpm_233_21 -
The New England Journal of Medicine Oct 2019
Topics: Anemia, Pernicious; Atrophy; Glossitis; Humans; Male; Middle Aged; Tongue
PubMed: 31618542
DOI: 10.1056/NEJMicm1902490