-
The Medical Clinics of North America Mar 2017Vitamin B and folate deficiencies are major causes of megaloblastic anemia. Causes of B deficiency include pernicious anemia, gastric surgery, intestinal disorders,... (Review)
Review
Vitamin B and folate deficiencies are major causes of megaloblastic anemia. Causes of B deficiency include pernicious anemia, gastric surgery, intestinal disorders, dietary deficiency, and inherited disorders of B transport or absorption. The prevalence of folate deficiency has decreased because of folate fortification, but deficiency still occurs from malabsorption and increased demand. Other causes include drugs and inborn metabolic errors. Clinical features of megaloblastic anemia include anemia, cytopenias, jaundice, and megaloblastic marrow morphology. Neurologic symptoms occur in B deficiency, but not in folate deficiency. Management includes identifying any deficiency, establishing its cause, and replenishing B or folate parenterally or orally.
Topics: Anemia, Megaloblastic; Comorbidity; Folic Acid Deficiency; Humans; Metabolic Diseases; Nutrition Disorders; Prevalence; Vitamin B 12 Deficiency
PubMed: 28189172
DOI: 10.1016/j.mcna.2016.09.013 -
Cleveland Clinic Journal of Medicine Jan 2022
Topics: Anemia, Megaloblastic; Humans; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins
PubMed: 34983795
DOI: 10.3949/ccjm.89a.21041 -
Clinical Obstetrics and Gynecology Sep 1995Megaloblastic anemia is one of the acquired nutritional anemias that may complicate pregnancy. It is most often secondary to folic acid deficiency because folate... (Review)
Review
Megaloblastic anemia is one of the acquired nutritional anemias that may complicate pregnancy. It is most often secondary to folic acid deficiency because folate requirements are increased during gestation. When the diagnosis of megaloblastic anemia is confirmed, appropriate therapy will initiate a rapid reversal of the anemia process. Because of the association between neural tube defects and folate deficiency, it is recommended that women of reproductive age take folic acid supplementation.
Topics: Anemia, Megaloblastic; Female; Folic Acid Deficiency; Humans; Neural Tube Defects; Nutritional Requirements; Pregnancy; Pregnancy Complications, Hematologic; Vitamin B 12 Deficiency
PubMed: 8612357
DOI: 10.1097/00003081-199509000-00005 -
FP Essentials Jul 2023Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis,...
Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed. Vitamin B12 deficiency is the most common cause for megaloblastic anemia, although folate deficiency also can contribute. Nonmegaloblastic anemia entails normal DNA synthesis and typically is caused by chronic liver dysfunction, hypothyroidism, alcohol use disorder, or myelodysplastic disorders. Macrocytosis also can result from release of reticulocytes in the normal physiologic response to acute anemia. Management of macrocytic anemia is specific to the etiology identified through testing and patient evaluation.
Topics: Humans; Anemia, Macrocytic; Anemia; Anemia, Megaloblastic; Alcoholism; DNA
PubMed: 37390397
DOI: No ID Found -
Postgraduate Medicine Oct 1978Most, but not all, megaloblastic anemia is produced by "ineffective erythropoiesis" in the bone marrow due to either folic acid or vitamin B12 deficiency. In folic acid...
Most, but not all, megaloblastic anemia is produced by "ineffective erythropoiesis" in the bone marrow due to either folic acid or vitamin B12 deficiency. In folic acid deficiency the cause frequently is inadequate dietary intake, whereas vitamin B12 deficiency is almost always conditioned by some specific type of malabsorption. Anemia with oval macrocytes, few reticulocytes, moderate leukopenia, and thrombocytopenia is typical of both. Aplastic anemia, refractory anemias with cellular marrow, preleukemia, aleukemia, and erythroleukemia may have somewhat similar blood findings but are usually recognizable from bone marrow biopsy. Decreased levels of folate or vitamin B12 are the most reliable criteria of megaloblastic anemia. With these available in advance, therapy with the appropriate vitamin can be begun at once. If serum levels are unavailable or available only in retrospect, initial treatment, especially of severe anemia, should be with both vitamins. Differentiation between folate and vitamin B12 deficiency is important but impossible by blood and bone marrow morphology alone. Thus, if serum levels are unavailable, the distinction must be made, sometimes retrospectively, on the basis of other laboratory examinations, such as gastric analysis, small-bowel x-ray films, and the Schilling test.
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Humans; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 704501
DOI: 10.1080/00325481.1978.11714952 -
La Revue de Medecine Interne Jan 2019Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components:... (Review)
Review
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects.
Topics: Anemia, Megaloblastic; Diabetes Mellitus; Diagnosis, Differential; Dietary Supplements; Hearing Loss, Sensorineural; Humans; Membrane Transport Proteins; Mutation; Thiamine; Thiamine Deficiency
PubMed: 30031565
DOI: 10.1016/j.revmed.2018.06.005 -
Clinical Laboratory Sep 2022Deficiency of vitamin B(12) or folate causes megaloblastic anemia (MA). The disease presents with pancytopenia due to the excessive cellular apoptosis of hematopoietic...
BACKGROUND
Deficiency of vitamin B(12) or folate causes megaloblastic anemia (MA). The disease presents with pancytopenia due to the excessive cellular apoptosis of hematopoietic progenitor. MA is characterized by the presence of high mean corpuscular volume in the blood routine test and hyperlobulation nuclei of the granulocytes in the peripheral blood smears, and megaloblasts in the bone marrow.
METHODS
We report a rare case, in which megaloblastic anemia was masked by an unrecognized hemoglobinopathy and presented with normocytic anemia and atypical morphological features of bone marrow.
RESULTS
The patient was finally diagnosed with coexistence of MA and a-thalassemia minor due to determination of folate deficiency and genetic mutation for a-thalassemia.
CONCLUSIONS
The case focuses on the contribution of the peripheral circulating blood smear examination in the diagnosis of anemia.
Topics: Anemia, Megaloblastic; Folic Acid; Folic Acid Deficiency; Humans; Thalassemia; Vitamins
PubMed: 36125146
DOI: 10.7754/Clin.Lab.2021.211231 -
Blood May 2017B deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B deficiency usually... (Review)
Review
B deficiency is the leading cause of megaloblastic anemia, and although more common in the elderly, can occur at any age. Clinical disease caused by B deficiency usually connotes severe deficiency, resulting from a failure of the gastric or ileal phase of physiological B absorption, best exemplified by the autoimmune disease pernicious anemia. There are many other causes of B deficiency, which range from severe to mild. Mild deficiency usually results from failure to render food B bioavailable or from dietary inadequacy. Although rarely resulting in megaloblastic anemia, mild deficiency may be associated with neurocognitive and other consequences. B deficiency is best diagnosed using a combination of tests because none alone is completely reliable. The features of B deficiency are variable and may be atypical. Timely diagnosis is important, and treatment is gratifying. Failure to diagnose B deficiency can have dire consequences, usually neurological. This review is written from the perspective of a practicing hematologist.
Topics: Anemia, Megaloblastic; Anemia, Pernicious; Animals; Folic Acid; Humans; Intestinal Absorption; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 28360040
DOI: 10.1182/blood-2016-10-569186 -
Indian Journal of Pediatrics 1987
Review
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Female; Folic Acid; Folic Acid Deficiency; Humans; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 3301655
DOI: 10.1007/BF02748918 -
The New England Journal of Medicine Jan 1963
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Folic Acid; Humans
PubMed: 13953898
DOI: 10.1056/NEJM196301242680409