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Hemoglobin Barts hydrops fetalis is the most severe form of alpha-thalassemia, and individuals with this disease have severe anemia during the fetal stage of development. [15] It has been considered as fatal until advances in treatment were made. Patients that survive hemoglobin Barts hydrops fetalis will become transfusion dependent. [5]
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death.
Patients with propionic acidemia should be started as early as possible on a low protein diet. In addition to a protein mixture that is devoid of methionine, threonine, valine, and isoleucine, the patient should also receive L -carnitine treatment and should be given antibiotics 10 days per month in order to remove the intestinal propiogenic flora.
Congenital hemolytic anemia (CHA) is a diverse group of rare hereditary conditions marked by decreased life expectancy and premature removal of erythrocytes from blood flow. Defects in erythrocyte membrane proteins and red cell enzyme metabolism , as well as changes at the level of erythrocyte precursors, lead to impaired bone marrow ...
This compromises the effectiveness of treatment since treatment of the disease is often aimed at the underlying cause. [ 39 ] Those with a higher risk for aplastic anemia include individuals who are exposed to high-dose radiation or toxic chemicals, take certain prescription drugs, have pre-existing autoimmune disorders or blood diseases, or ...
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. [4] [5] Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.
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Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia , characterized by ineffective erythropoiesis , and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [ 2 ]
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