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Hereditary pyropoikilocytosis

FieldValue
nameHereditary pyropoikilocytosis
synonymsPyropoikilocytosis hereditary
imageFile:Autosomal recessive - en.svg
captionHereditary pyropoikilocytosis is autosomal recessive
fieldhematology

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. Patients with HPP tend to experience severe hemolysis and anemia in infancy that gradually improves, evolving toward typical elliptocytosis later in life. However, the hemolysis can lead to rapid sequestration and destruction of red cells. Splenectomy is curative when this occurs.

HPP has been associated with a defect of the erythrocyte membrane protein spectrin and with spectrin deficiency. It was characterized in 1975. It is considered a severe form of hereditary elliptocytosis.

Signs and symptoms

Causes

Mutations of the alphaspectrin gene causes this disease. HPP can be considered as a subset of hereditary elliptocytosis.

Diagnosis

Genetic testing for the presence of mutations in protein molecules is considered to be a confirmatory testing technique. It is important to know the risks regarding the transmission and dangers of HPP.

Treatment

Splenectomy is a possible treatment

References

References

  1. "Pyropoikilocytosis hereditary {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  2. (1975). "A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane". Br J Haematol.
  3. (April 2011). "Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins". International Journal of Laboratory Hematology.
  4. "Pyropoikilocytosis, Hereditary disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials".
  5. "OMIM Entry - # 266140 - PYROPOIKILOCYTOSIS, HEREDITARY; HPP".
  6. "Final Diagnosis -- Case 623".
Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

red-blood-cell-disorders autosomal-recessive-disorders cytoskeletal-defects
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