Hereditary pyropoikilocytosis

Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis is autosomal recessive
Classification and external resources
OMIM 266140

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 haemolysis and anaemia 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.[1]It is considered a severe form of hereditary elliptocytosis.[2]

Causes

Mutations of the alphaspectrin gene causes this disease.[3] HPP can be considered as a subset of hereditary elliptocytosis.[4]

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.[5]

Treatment

  • Splenectomy

See also

References

  1. ↑ Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB (1975). "A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane". Br J Haematol. 29 (4): 537–43. doi:10.1111/j.1365-2141.1975.tb02740.x. PMID 1191563.
  2. ↑ King MJ, Jepson MA, Guest A, Mushens R (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". Int J Lab Hematol. 33 (2): 205–11. doi:10.1111/j.1751-553X.2010.01270.x. PMID 21054813.
  3. ↑ "Archived copy". Archived from the original on 2015-01-10. Retrieved 2015-01-06.
  4. ↑ "OMIM Entry - # 266140 - PYROPOIKILOCYTOSIS, HEREDITARY; HPP". Omim.org. Retrieved 9 July 2018.
  5. ↑ "Final Diagnosis -- Case 623". Path.upmc.edu. Retrieved 9 July 2018.


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