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Congenital nonspherocytic hemolytic anemia

MedGen UID:
284
•Concept ID:
C0002882
•
Disease or Syndrome
Synonyms: Anemia, Congenital Nonspherocytic Hemolytic; Anemia, Hemolytic Congenital, Nonspherocytic; Anemia, Hemolytic, Congenital Nonspherocytic; Congenital Nonspherocytic Hemolytic Anemia; Hemolytic Anemia, Congenital Nonspherocytic
SNOMED CT: Congenital nonspherocytic hemolytic anemia (301317008); Hereditary nonspherocytic hemolytic anemia (301317008); HNSHA - hereditary nonspherocytic hemolytic anemia (301317008)
 
Monarch Initiative: MONDO:0006506

Definition

Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital nonspherocytic hemolytic anemia

Professional guidelines

PubMed

An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency.
Song AB, Al-Samkari H
Expert Rev Hematol 2022 Oct;15(10):875-885. Epub 2022 Sep 22 doi: 10.1080/17474086.2022.2125865. PMID: 36124781
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
GENETIC PROGNOSIS AND COUNSELING.
MOTULSKY AG, HECHT F
Am J Obstet Gynecol 1964 Dec 1;90:SUPPL:1227-41. doi: 10.1016/0002-9378(64)90843-9. PMID: 14231697

Recent clinical studies

Therapy

Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.
Zhuang-Yan A, Shirley M
Drugs 2023 Nov;83(17):1613-1620. Epub 2023 Nov 22 doi: 10.1007/s40265-023-01961-x. PMID: 37991635
Mitapivat: A Quinolone Sulfonamide to Manage Hemolytic Anemia in Adults With Pyruvate Kinase Deficiency.
Wills J, Horenstein M, Kim A, Silva MA, Dima L
Am J Ther 2023 Sep-Oct 01;30(5):e433-e438. doi: 10.1097/MJT.0000000000001663. PMID: 37713687
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
Al-Samkari H, Galactéros F, Glenthøj A, Rothman JA, Andres O, Grace RF, Morado-Arias M, Layton DM, Onodera K, Verhovsek M, Barcellini W, Chonat S, Judge MP, Zagadailov E, Xu R, Hawkins P, Beynon V, Gheuens S, van Beers EJ; ACTIVATE Investigators
N Engl J Med 2022 Apr 14;386(15):1432-1442. doi: 10.1056/NEJMoa2116634. PMID: 35417638
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Red Blood Cell Enzyme Disorders.
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284

Prognosis

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.
Grace RF, van Beers EJ, Vives Corrons JL, Glader B, Glenthøj A, Kanno H, Kuo KHM, Lander C, Layton DM, Pospíŝilová D, Viprakasit V, Li J, Yan Y, Boscoe AN, Bowden C, Bianchi P
BMJ Open 2023 Mar 23;13(3):e063605. doi: 10.1136/bmjopen-2022-063605. PMID: 36958777Free PMC Article
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S, Grace RF, Despotovic JM
Pediatr Blood Cancer 2022 Aug;69(8):e29696. Epub 2022 Apr 22 doi: 10.1002/pbc.29696. PMID: 35452178
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
VanDemark AP, Hrizo SL, Eicher SL, Kowalski J, Myers TD, Pfeifer MR, Riley KN, Koeberl DD, Palladino MJ
Dis Model Mech 2022 May 1;15(5) Epub 2022 May 17 doi: 10.1242/dmm.049261. PMID: 35315486Free PMC Article
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B
N Engl J Med 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. PMID: 31483964
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173

Clinical prediction guides

Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.
van Beers EJ, Al-Samkari H, Grace RF, Barcellini W, Glenthøj A, DiBacco M, Wind-Rotolo M, Xu R, Beynon V, Patel P, Porter JB, Kuo KHM
Blood Adv 2024 May 28;8(10):2433-2441. doi: 10.1182/bloodadvances.2023011743. PMID: 38330179Free PMC Article
Recent developments in the use of pyruvate kinase activators as a new approach for treating sickle cell disease.
Parekh DS, Eaton WA, Thein SL
Blood 2024 Mar 7;143(10):866-871. doi: 10.1182/blood.2023021167. PMID: 38118071Free PMC Article
Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.
Zhuang-Yan A, Shirley M
Drugs 2023 Nov;83(17):1613-1620. Epub 2023 Nov 22 doi: 10.1007/s40265-023-01961-x. PMID: 37991635
Erythrocyte pyruvate kinase deficiency: 2015 status report.
Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B
Am J Hematol 2015 Sep;90(9):825-30. Epub 2015 Aug 14 doi: 10.1002/ajh.24088. PMID: 26087744Free PMC Article
Triosephosphate isomerase deficiency: facts and doubts.
Orosz F, Oláh J, Ovádi J
IUBMB Life 2006 Dec;58(12):703-15. doi: 10.1080/15216540601115960. PMID: 17424909

Recent systematic reviews

Prevalence of pyruvate kinase deficiency: A systematic literature review.
Secrest MH, Storm M, Carrington C, Casso D, Gilroy K, Pladson L, Boscoe AN
Eur J Haematol 2020 Aug;105(2):173-184. Epub 2020 Jun 23 doi: 10.1111/ejh.13424. PMID: 32279356Free PMC Article

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