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Hereditary stomatocytosis describes a number of inherited, mostly autosomal dominant human conditions which affect the red blood cell and create the appearance of a slit-like area of central pallor (stomatocyte) among erythrocytes on peripheral blood smear.
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.
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
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.
Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine. Slow growth may occur in children. [27] Treatment depends on the type and severity. [28] Treatment for those with more severe disease often includes regular blood transfusions, iron chelation, and folic acid. [28]
Other disorders which cause macrocytosis without DNA replication problems (i.e., non-megaloblastic macrocytic anemias), are disorders associated with increased red cell membrane surface area, such as pathologies of the liver and spleen which produce codocytes or "target cells" which have a central collection of hemoglobin surrounded by a pallor (a thin area) then followed by a thicker ...
For example, poikilocytosis can be caused by a vitamin deficiency (e.g. vitamin B 12, folic acid), in which case the treatment is to replenish the deficient vitamin. It can be caused by a digestive disease, such as celiac disease , in which case the solution may lie in treating the underlying celiac disease so that nutrients can be properly ...
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.