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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 ...
Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome.
Hypersegmented neutrophils may be seen in the absence of macroovalocytes as hypersegmentation of neutrophils is an early sign of megaloblastic anemia and may precede the appearance of macroovalocytes; they may also be seen in other anemias (e.g., iron deficiency anemia) and thus are suggestive of megaloblastic anemia but not specific for it. [1]
Lubani Al Saleh Teebi syndrome also known as cystic fibrosis-gastritis-megaloblastic anemia syndrome is a very rare autosomal recessive genetic disorder which consists of cystic fibrosis, helicobacter pylori-associated gastritis, folate-deficiency megaloblastic anemia and intellectual disabilities.
Macrocytic anemia: Megaloblastic anemia: D51.1, D52.0, D53.1: 29507: Megaloblastic anemia (or megaloblastic anaemia) is an anemia of macrocytic classification that results from inhibition of DNA synthesis in red blood cell production. [10] Microangiopathic hemolytic anemia: Minkowski-Chauffard syndrome: Myelophthisic anemia: D61.9
The presence of hypersegmented neutrophils is an important diagnostic feature of megaloblastic anaemias. Hypersegmentation can also be seen in many other conditions but with relatively less diagnostic significance. Hypersegmentation can sometimes be difficult to assert since interobserver variation is high and segmentation may vary with race.
Immune mediated hemolytic anemia (direct Coombs test is positive) Autoimmune hemolytic anemia. Warm antibody autoimmune hemolytic anemia. Idiopathic; Systemic lupus erythematosus (SLE) Evans syndrome (antiplatelet antibodies and hemolytic antibodies) Cold autoimmune hemolytic anemia Cold agglutinin disease; Paroxysmal cold hemoglobinuria (rare)
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).