Hereditary pyropoikilocytosis is an autosomal recessive form of haemolytic anaemia in which red blood cells are abnormally sensitive to heat and look like cells from thermal burns. Affected infants tend to have severe haemolysis and anaemia that gradually improves, evolving toward the typical elliptocytosis of hereditary elliptocytosis, of which it is considered a severe form. It has been associated with a defect of the red cell membrane protein spectrin and with spectrin deficiency, and mutations of the alpha spectrin gene cause the disease. It was characterised in 1975. Genetic testing confirms the diagnosis. Rapid sequestration and destruction of red cells can occur, and removal of the spleen is curative when it does.
Facts
Classification
ICD-10 ChapterIII: Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. Hereditary pyropoikilocytosis (Wikipedia)
Causes
Mutations of the alphaspectrin gene causes this disease.
Lead
It was characterized in 1975.
lead sentence 1
Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns or from prolonged exposure of a healthy patient's blood sample to high ambient temperatures.
Lead: disease category
Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns or from prolonged exposure of a healthy patient's blood sample to high ambient temperatures.
View the SourceReader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.