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Overhydrated hereditary stomatocytosis is frequently linked to mutations in genes that encode components of the band 3 complex, such as RHAG. [4] It is the altered band 3 protein complex which mediates the cation leaks that are characteristic of hydrocytotic hereditary stomatocytosis. [7]
This is a shortened version of the fourth chapter of the ICD-9: Diseases of the Blood and Blood-forming Organs.It covers ICD codes 280 to 289.The full chapter can be found on pages 167 to 175 of Volume 1, which contains all (sub)categories of the ICD-9.
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. Hexokinase deficiency: D55.2
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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.
RHAG - Rh-associated glycoprotein is an ammonia transporter protein encoded by the RHAG gene. Mutations in this gene can cause stomatocytosis. CD242: known as ICAM4 (Intercellular Adhesion Molecule-4) or LW (Landsteiner-Wiener blood group) CD243
Rouleaux formation on wet smear. Rouleaux (singular is rouleau) are stacks or aggregations of red blood cells (RBCs) that form because of the unique discoid shape of the cells in vertebrates.
Physicians specialized in hematology are known as hematologists or haematologists. [2] Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hematology laboratory viewing blood films and bone marrow slides under the microscope, interpreting various hematological test results and blood clotting test results.