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.[2] It is considered a severe form of hereditary elliptocytosis.[3]
Mutations of the alphaspectrin gene causes this disease.[4] HPP can be considered as a subset of hereditary elliptocytosis.[5]
Diagnosisedit
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.[6]
^"Pyropoikilocytosis hereditary | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 July 2019.
^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. S2CID 27274147.
^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". International Journal of Laboratory Hematology. 33 (2): 205–11. doi:10.1111/j.1751-553X.2010.01270.x. PMID 21054813. S2CID 12444573.
^. Archived from the original on 2015-01-10. Retrieved 2015-01-06.
^"Final Diagnosis -- Case 623". Path.upmc.edu. Retrieved 9 July 2018.
External linksedit
January 01, 1970
hereditary, pyropoikilocytosis, autosomal, recessive, form, hemolytic, anemia, characterized, abnormal, sensitivity, blood, cells, heat, erythrocyte, morphology, similar, that, seen, thermal, burns, from, prolonged, exposure, healthy, patient, blood, sample, h. 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 Hereditary pyropoikilocytosisOther namesPyropoikilocytosis hereditary 1 Hereditary pyropoikilocytosis is autosomal recessiveSpecialtyHematology HPP has been associated with a defect of the erythrocyte membrane protein spectrin and with spectrin deficiency It was characterized in 1975 2 It is considered a severe form of hereditary elliptocytosis 3 Contents 1 Causes 2 Diagnosis 3 Treatment 4 See also 5 References 6 External linksCauses editMutations of the alphaspectrin gene causes this disease 4 HPP can be considered as a subset of hereditary elliptocytosis 5 Diagnosis editGenetic 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 6 Treatment editSplenectomy is a possible treatment citation needed See also editErythrocyte Poikilocytosis List of hematologic conditionsReferences edit Pyropoikilocytosis hereditary Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 17 July 2019 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 S2CID 27274147 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 International Journal of Laboratory Hematology 33 2 205 11 doi 10 1111 j 1751 553X 2010 01270 x PMID 21054813 S2CID 12444573 Pyropoikilocytosis Hereditary disease Malacards Research Articles Drugs Genes Clinical Trials Archived from the original on 2015 01 10 Retrieved 2015 01 06 OMIM Entry 266140 PYROPOIKILOCYTOSIS HEREDITARY HPP Omim org Retrieved 9 July 2018 Final Diagnosis Case 623 Path upmc edu Retrieved 9 July 2018 External links edit Retrieved from https en wikipedia org w index php title Hereditary pyropoikilocytosis amp oldid 1184146770, wikipedia, wiki, book, books, library,
