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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).
See: Feature record | Search on this feature
Elliptocytosis
MedGen UID:
98107
•Concept ID:
C0427480
•
Finding
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
See: Feature record | Search on 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).
See: Feature record | Search on this feature
Microspherocytosis
MedGen UID:
870826
•Concept ID:
C4025285
•
Disease or Syndrome
The presence of erythrocytes that are sphere-shaped and reduced in size.
See: Feature record | Search on this feature

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).
See: Condition Record
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).
See: Condition Record
Elliptocytosis 3
Pyropoikilocytosis, hereditary

Professional guidelines

PubMed

Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
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
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
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
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis.
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

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
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
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
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
Laboratory Approach to Hemolytic Anemia.
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
Advances in understanding the pathogenesis of red cell membrane disorders.
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
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
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

Laboratory Approach to Hemolytic Anemia.
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
Advances in understanding the pathogenesis of red cell membrane disorders.
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
Acquired "pyro"-poikilocytosis.
Thomas B, Perrin J
Blood 2017 Dec 21;130(25):2808. doi: 10.1182/blood-2017-08-802678. PMID: 29269532
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
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
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology
Int J Lab Hematol 2015 Jun;37(3):304-25. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109

Prognosis

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
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
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Anil More T, Kedar P
Gene 2022 Nov 15;843:146796. Epub 2022 Aug 9 doi: 10.1016/j.gene.2022.146796. PMID: 35961434
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
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
Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD, Agarwal AM, Yaish HM, Reading NS, O'Brien EA, Prchal JT
Clin Pediatr (Phila) 2018 Jan;57(1):19-26. Epub 2017 Jan 15 doi: 10.1177/0009922816687326. PMID: 28090778
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
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

Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
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
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
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
Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.
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
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
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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