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Inherited aplastic anemia
- ... People with this condition often also have physical abnormalities affecting various parts of the body.The RPL5 gene mutations that cause Diamond-Blackfan anemia are either inherited or occur early in development before birth, and ...
- ... The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence ...
- ... of the iron overload in X-linked sideroblastic anemia when it is inherited along with a mutation in the ALAS2 gene. The combination of HFE and ALAS2 gene mutations leads to more severe signs and symptoms of X-linked sideroblastic anemia by further increasing the absorption of dietary iron, ...
- ... autoimmune disorder, primarily rheumatoid arthritis or autoimmune hemolytic anemia, and other blood cell abnormalities, such as pure red cell aplasia. There are ...
- ... phosphate isomerase (GPI) deficiency. GPI deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down ( ...
- ... to a shortage of red blood cells (hemolytic anemia) and blood in the urine. Studies show that ... low muscle tone (hypotonia); distinct facial features; and abnormalities that are present from birth (congenital), typically involving ...
