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Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of oxygen. [1] Megaloblastic anemia results from inhibition of DNA synthesis during red blood cell production. [2] When DNA synthesis is impaired, the cell cycle cannot progress from the G2 growth stage to the mitosis (M ...
Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic anemia, diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine (vitamin B1).
Macrocytic anemias have several causes but with the implementation of folic acid fortification in North America, folate deficiency has become a rare cause of megaloblastic macrocytic anemia in that part of the world. [1] In this region, Vitamin B 12 deficiency is a far more common cause of megaloblastic macrocytic anemia. [1]
Defined as those seen in any macrocytic, megaloblastic anemia: [1] Anemia: causing fatigue, conjuctival pallor, pale complexion, and in some cases, a mild icterus (yellowing of the eye). Glossitis ("shiny tongue"): shiny, glossy tongue. Cheilosis (stomatitis): Inflammation of the edges of the lips and the oral mucosa.
Macrocytosis is a condition where red blood cells are larger than normal. [1] These enlarged cells, also known as macrocytes, are defined by a mean corpuscular volume (MCV) that exceeds the upper reference range established by the laboratory and hematology analyzer (usually >110 fL). [2]
Macroovalocytes are enlarged, oval-shaped erythrocytes (red blood cells). They are not seen in healthy blood, and are most commonly seen in megaloblastic anemia. [1] In most instances, the macroovalocyte morphology is due to megaloblastic erythropoiesis (Vitamin B-12 or folate deficiency) but may be seen with dyserythropoiesis.
Neutrophil hypersegmentation is one of the earliest, most sensitive and specific signs of megaloblastic anemia (mainly caused by hypovitaminosis of vitamin B12 & folic acid). Nuclear hypersegmentation of DNA in neutrophils strongly suggests megaloblastosis when associated with macro-ovalocytosis.
Pernicious anemia is the most common cause of vitamin B 12 deficiency anemia in adults, which results from malabsorption of vitamin B 12 due to a lack or loss of intrinsic factor. [ 2 ] [ 8 ] There are relatively few studies which have assessed the impact of haematological measures in response to B 12 supplementation.