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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]
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of aplastic anemia affecting the precursors to red blood cells but usually not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple etiologies that can cause PRCA. The condition has been first described by Paul Kaznelson in 1922. [1]
A megaloblast is an unusually large erythroblast that can be associated with vitamin B 12 deficiency (caused by pernicious anemia or dietary insufficiency), folic acid deficiency, or both (such anemias are collectively called megaloblastic anemias). This kind of anemia leads to macrocytes (abnormally large red cells) and the condition called ...
In OTC deficiency, hyperammonemia and decreased BUN are seen because the urea cycle is not functioning properly, but megaloblastic anemia will not occur because pyrimidine synthesis is not affected. [7] In orotic aciduria, the urea cycle is not affected. [citation needed] Orotic aciduria can be diagnosed through genetic sequencing of the UMPS ...
Methylmalonic acidemias have varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. [3] The first symptoms may begin as early as the first day of life or as late as adulthood. [4] Symptoms can range from mild to life-threatening. [1]