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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.
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]
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.
Plummer–Vinson syndrome (also known as Paterson–Kelly syndrome [1] or Paterson–Brown-Kelly syndrome in the UK [2]) is a rare disease characterized by dysphagia (difficulty swallowing), iron-deficiency anemia, glossitis (inflammation of the tongue), cheilosis (cracking at the corners of the mouth), and esophageal webs (thin membranes in the esophagus that can cause obstruction). [1]
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
Treatments for nutritional anemia includes replacement therapy is used to elevate the low levels of nutrients.[1] Diet improvement is a way to combat nutritional anemia and this can be done by taking dietary supplements such as iron, folate, and Vitamin B12.[2] These supplements are available over-the-counter however, a doctor may prescribe ...
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
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.