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Pyropoikilocytosis, hereditary(HPP)

MedGen UID:
141708
Concept ID:
C0520739
Disease or Syndrome
Synonym: Pyropoikilocytosis
SNOMED CT: Hereditary pyropoikilocytosis (9434008); HPP - hereditary pyropoikilocytosis (9434008)
 
Gene (location): SPTA1 (1q23.1)
 
HPO: HP:0004839
Monarch Initiative: MONDO:0009948
OMIM®: 266140
Orphanet: ORPHA98867

Definition

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008). [from OMIM]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Elliptocytosis
MedGen UID:
98107
Concept ID:
C0427480
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
Pyropoikilocytosis, hereditary
MedGen UID:
141708
Concept ID:
C0520739
Disease or Syndrome
Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).
Microspherocytosis
MedGen UID:
870826
Concept ID:
C4025285
Disease or Syndrome
The presence of erythrocytes that are sphere-shaped and reduced in size.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyropoikilocytosis, hereditary

Conditions with this feature

Pyropoikilocytosis, hereditary
MedGen UID:
141708
Concept ID:
C0520739
Disease or Syndrome
Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).
Elliptocytosis 3
MedGen UID:
357139
Concept ID:
C1866810
Disease or Syndrome
Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804).

Professional guidelines

PubMed

Agarwal AM, McMurty V, Clayton AL, Bolia A, Reading NS, Mani C, Patel JL, Rets A
Eur J Haematol 2023 Jun;110(6):688-695. Epub 2023 Mar 8 doi: 10.1111/ejh.13951. PMID: 36825813
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA
Blood Cells Mol Dis 2016 Oct;61:4-9. Epub 2016 Jul 17 doi: 10.1016/j.bcmd.2016.07.003. PMID: 27667160Free PMC Article
King MJ, Telfer P, MacKinnon H, Langabeer L, McMahon C, Darbyshire P, Dhermy D
Cytometry B Clin Cytom 2008 Jul;74(4):244-50. doi: 10.1002/cyto.b.20413. PMID: 18454487

Recent clinical studies

Etiology

Songdej D, Surapolchai P, Komwilaisak P, Sripornsawan P, Lauhasurayotin S, Teawtrakul N, Rungjirajittranon T, Tantiworawit A, Sinlapamongkolkul P, Torcharus K, Sutcharitchan P, Pongtanakul B, Sirachainan N, Charoenkwan P
Ann Hematol 2024 Feb;103(2):385-393. Epub 2023 Nov 23 doi: 10.1007/s00277-023-05555-1. PMID: 37996759
Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155
Lin PC, Chiou SS, Lin CY, Wang SC, Huang HY, Chang YS, Tseng YH, Kan TM, Liao YM, Tsai SP, Peng CT, Chang JG
Clin Chim Acta 2018 Dec;487:311-317. Epub 2018 Oct 11 doi: 10.1016/j.cca.2018.10.020. PMID: 30317022

Diagnosis

Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Iolascon A, Andolfo I, Russo R
Br J Haematol 2019 Oct;187(1):13-24. Epub 2019 Jul 31 doi: 10.1111/bjh.16126. PMID: 31364155
Thomas B, Perrin J
Blood 2017 Dec 21;130(25):2808. doi: 10.1182/blood-2017-08-802678. PMID: 29269532
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA
Blood Cells Mol Dis 2016 Oct;61:4-9. Epub 2016 Jul 17 doi: 10.1016/j.bcmd.2016.07.003. PMID: 27667160Free PMC Article
Bayhan T, Ünal Ş, Gümrük F
Turk J Haematol 2016 Mar 5;33(1):86-7. Epub 2015 Aug 6 doi: 10.4274/tjh.2015.0054. PMID: 26377499Free PMC Article

Prognosis

Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Anil More T, Kedar P
Gene 2022 Nov 15;843:146796. Epub 2022 Aug 9 doi: 10.1016/j.gene.2022.146796. PMID: 35961434
Vives-Corrons JL, Krishnevskaya E, Hernández-Rodriguez I, Payán-Pernia S, Sevilla ÁFR, Badell I
Ann Hematol 2022 Mar;101(3):549-555. Epub 2021 Nov 29 doi: 10.1007/s00277-021-04723-5. PMID: 34845540
Suzuki T, Togawa T, Kanno H, Ogura H, Yamamoto T, Sugiura T, Kouwaki M, Saitoh S
J Pediatr Hematol Oncol 2021 Mar 1;43(2):e250-e254. doi: 10.1097/MPH.0000000000001796. PMID: 32287101
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA
Blood Cells Mol Dis 2016 Oct;61:4-9. Epub 2016 Jul 17 doi: 10.1016/j.bcmd.2016.07.003. PMID: 27667160Free PMC Article

Clinical prediction guides

Songdej D, Surapolchai P, Komwilaisak P, Sripornsawan P, Lauhasurayotin S, Teawtrakul N, Rungjirajittranon T, Tantiworawit A, Sinlapamongkolkul P, Torcharus K, Sutcharitchan P, Pongtanakul B, Sirachainan N, Charoenkwan P
Ann Hematol 2024 Feb;103(2):385-393. Epub 2023 Nov 23 doi: 10.1007/s00277-023-05555-1. PMID: 37996759
Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R
Ann Hematol 2023 Sep;102(9):2343-2351. Epub 2023 Jul 4 doi: 10.1007/s00277-023-05337-9. PMID: 37400730
Vives-Corrons JL, Krishnevskaya E, Hernández-Rodriguez I, Payán-Pernia S, Sevilla ÁFR, Badell I
Ann Hematol 2022 Mar;101(3):549-555. Epub 2021 Nov 29 doi: 10.1007/s00277-021-04723-5. PMID: 34845540
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA
Blood Cells Mol Dis 2016 Oct;61:4-9. Epub 2016 Jul 17 doi: 10.1016/j.bcmd.2016.07.003. PMID: 27667160Free PMC Article

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