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Hereditary pyropoikilocytosis(HPP)

MedGen UID:
141708
Concept ID:
C0520739
Disease or Syndrome
Synonyms: HPP; Pyropoikilocytosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: HPP - Hereditary pyropoikilocytosis (9434008); Hereditary pyropoikilocytosis (9434008); HPP (9434008)
 
Gene (location): SPTA1 (1q23.1)
OMIM®: 266140
HPO: HP:0004839
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 condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Elliptocytosis
MedGen UID:
98107
Concept ID:
C0427480
Finding
A peripheral blood finding in which a large number of erythrocytes are shaped in a slightly oval-shaped form.
Hereditary pyropoikilocytosis
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  
  • CROGVHereditary pyropoikilocytosis

Conditions with this feature

Hereditary pyropoikilocytosis
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).
Spherocytosis type 2
MedGen UID:
436112
Concept ID:
C2674219
Disease or Syndrome
Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.

Recent clinical studies

Etiology

Gallagher PG
Pediatr Clin North Am 2013 Dec;60(6):1349-62. Epub 2013 Oct 15 doi: 10.1016/j.pcl.2013.09.001. PMID: 24237975Free PMC Article
King MJ, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. PMID: 21054813
DePalma L, Luban NL
Am J Dis Child 1993 Jan;147(1):93-5. doi: 10.1001/archpedi.1993.02160250095029. PMID: 8418610
Lecomte MC, Dhermy D, Garbarz M, Feo C, Gautero H, Bournier O, Picat C, Chaveroche I, Galand C, Boivin P
Hum Genet 1987 Dec;77(4):329-34. doi: 10.1007/bf00291420. PMID: 3692477
Lawler J, Palek J, Liu SC, Prchal J, Butler WM
Blood 1983 Dec;62(6):1182-9. PMID: 6640107

Diagnosis

Gali VL, Lynch DW
S D Med 2016 May;69(5):208-209. PMID: 28863418
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, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. PMID: 21054813
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
DePalma L, Luban NL
Am J Dis Child 1993 Jan;147(1):93-5. doi: 10.1001/archpedi.1993.02160250095029. PMID: 8418610

Therapy

Gallagher PG
Pediatr Clin North Am 2013 Dec;60(6):1349-62. Epub 2013 Oct 15 doi: 10.1016/j.pcl.2013.09.001. PMID: 24237975Free PMC Article
Gallagher PG
Hematology Am Soc Hematol Educ Program 2005:13-8. doi: 10.1182/asheducation-2005.1.13. PMID: 16304353
Lux SE, Wolfe LC
Pediatr Clin North Am 1980 May;27(2):463-86. doi: 10.1016/s0031-3955(16)33862-7. PMID: 6992078

Prognosis

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, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. PMID: 21054813
Lam VQ, Antoniou C, Rolius R, Fung LW
Br J Haematol 2009 Nov;147(3):392-5. Epub 2009 Aug 31 doi: 10.1111/j.1365-2141.2009.07876.x. PMID: 19747366Free PMC Article
DePalma L, Luban NL
Am J Dis Child 1993 Jan;147(1):93-5. doi: 10.1001/archpedi.1993.02160250095029. PMID: 8418610
Rangachari K, Beaven GH, Nash GB, Clough B, Dluzewski AR, Myint-Oo, Wilson RJ, Gratzer WB
Mol Biochem Parasitol 1989 Apr;34(1):63-74. doi: 10.1016/0166-6851(89)90020-0. PMID: 2651918

Clinical prediction guides

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, Jepson MA, Guest A, Mushens R
Int J Lab Hematol 2011 Apr;33(2):205-11. Epub 2010 Nov 3 doi: 10.1111/j.1751-553X.2010.01270.x. PMID: 21054813
Lam VQ, Antoniou C, Rolius R, Fung LW
Br J Haematol 2009 Nov;147(3):392-5. Epub 2009 Aug 31 doi: 10.1111/j.1365-2141.2009.07876.x. PMID: 19747366Free PMC Article
Gaetani M, Mootien S, Harper S, Gallagher PG, Speicher DW
Blood 2008 Jun 15;111(12):5712-20. Epub 2008 Jan 24 doi: 10.1182/blood-2007-11-122457. PMID: 18218854Free PMC Article
Franck PF, Op den Kamp JA, Lubin B, Berendsen W, Joosten P, Briët E, van Deenen LL, Roelofsen B
Biochim Biophys Acta 1985 May 14;815(2):259-67. doi: 10.1016/0005-2736(85)90296-2. PMID: 3995028

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