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The disease is autosomal recessive, and can therefore skip generations.Mutations in either amnionless (AMN) or cubilin can be the culprit. Due to its autosomal recessive pattern of inheritance, affected individuals (persons possessing a homozygous recessive genotype) need to undergo genetic counseling to identify the risk of family members who might be heterozygous genetic carriers.
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 ...
Therefore, low compliance of patients is one of the major concerns of this therapy. Side effects include abnormal growth of bones and kidney damages. [9] [13] Deferoxamine is seldom used alone nowadays, but rather in combination with oral deferiprone to increase the effectiveness in reducing iron overload. [9] [13]
Anemia of kidney failure [35] due to insufficient production of the hormone erythropoietin; Anemia of endocrine disease [36] Disturbance of proliferation and maturation of erythroblasts. Pernicious anemia [35] is a form of megaloblastic anemia due to vitamin B 12 deficiency dependent on impaired absorption of vitamin B 12.
ESAs are used to maintain hemoglobin at the lowest level that both minimizes transfusions and best meets a person's needs. [8] Medical speciality professional organizations do not recommend the use of ESAs in people with chronic kidney disease (CKD) who have hemoglobin levels greater than 10 g/dL and do not have anemia symptoms.
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 ...
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines.It was the first described enzyme deficiency of the de novo pyrimidine synthesis pathway.