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Stomatocytosis may present with signs and symptoms consistent with hemolytic anemia as a result of extravascular hemolysis and often intravascular hemolysis. These include fatigue and pallor, as well as signs of jaundice , splenomegaly and gallstone formation from prolonged hemolysis.
A few indications and symptoms include anemia, sporadic episodes of excruciating pain, hand and foot edema, recurrent infections, delayed puberty or growth, and visual issues. [19] The goal of sickle cell anemia treatment is usually to avoid pain episodes, relieve symptoms, and prevent complications.
Hereditary persistence of fetal hemoglobin: Hereditary stomatocytosis: D58.8: 29710: Hereditary stomatocytosis is a classification of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions, causing cell lyses and eventual haemolytic anaemia.
Symptoms, Signs and Ill-defined Conditions XVII 800–999: Injury and Poisoning E800–E999: Supplementary Classification of External Causes of Injury and Poisoning: V01–V82: Supplementary Classification of Factors influencing Health Status and Contact with Health Services: M8000–M9970: Morphology of Neoplasms
Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. [ 6 ] Although the wide distribution of stomatin and its constitutive expression suggest an important role for this protein in cell biology, perhaps as a “house-keeping” component, its function remains undetermined.
Initial symptoms of drug-induced autoimmune hemolytic anemia are typically vague and reflect mild, moderate, or severe anemia. Symptoms of DIIHA can manifest within hours to months of the initial drug exposure. [1] DIIHA ranges in severity from severe intravascular hemolysis to milder presentations of extravascular hemolysis. [7]
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]
It is hereditary hemolytic anaemia in which the red blood cell is oval-shaped. The primary defect in SAO differs significantly from other forms of elliptocytosis in that it is a defect in the gene coding for a protein that is not directly involved in the cytoskeleton scaffolding of the cell.