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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).
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 ...
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
Mutations in the SLC19A2 gene can cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially.
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]
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.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
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.