Hereditary spherocytosis is a congenital hemolytic disorder in which a genetic mutation affecting a structural membrane protein causes red blood cells to become sphere-shaped and rigid rather than their normal biconcave disk shape. This abnormal shape interferes with the cells' ability to flex during circulation and makes them more prone to rupture under osmotic or mechanical stress. Cells carrying the dysfunctional protein are degraded in the spleen, producing a shortage of red blood cells and resulting hemolytic anemia.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterIII: Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism 1 Communicable or Non-communicable Transmission Route First Described Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IIIQuote, List of chapters, Chapter III
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
2. Wikipedia: Non-communicable disease
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NCDs include Parkinson's disease, autoimmune diseases, strokes, heart diseases, cancers, diabetes, chronic kidney disease, osteoarthritis, osteoporosis, Alzheimer's disease, cataracts, and others.
3. Wikipedia: Hereditary spherocytosis
WikipediaLead section, transmission-route statementQuote, Lead section, transmission-route statement
Hereditary spherocytosis (HS) is a congenital hemolytic disorder wherein a genetic mutation coding for a structural membrane protein phenotype causes the red blood cells to be sphere-shaped and rigid (spherocytosis), rather than the normal biconcave disk shape.
4. Hereditary spherocytosis (Wikipedia)
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