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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

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
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
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

Etiology

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
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
Chonat S, Eber SW, Holzhauer S, Kollmar N, Morton DH, Glader B, Neufeld EJ, Yaish HM, Rothman JA, Sharma M, Ravindranath Y, Wang H, Breakey VR, Sheth S, Bradeen HA, Al-Sayegh H, London WB, Grace RF
Pediatr Blood Cancer 2021 Sep;68(9):e29148. Epub 2021 Jun 14 doi: 10.1002/pbc.29148. PMID: 34125488
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
Mehta A, Mason PJ, Vulliamy TJ
Baillieres Best Pract Res Clin Haematol 2000 Mar;13(1):21-38. doi: 10.1053/beha.1999.0055. PMID: 10916676

Diagnosis

Bianchi P, Fermo E
Haematologica 2020 Sep 1;105(9):2218-2228. doi: 10.3324/haematol.2019.241141. [Epub ahead of print] PMID: 33054047Free PMC Article
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
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
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284
Haley K
Med Clin North Am 2017 Mar;101(2):361-374. Epub 2016 Dec 8 doi: 10.1016/j.mcna.2016.09.008. PMID: 28189176

Therapy

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
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
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284
Zipursky A, Rowland M, Peters JC, Israels LG
Can Med Assoc J 1965 Nov 27;93(22):1141-6. PMID: 5320918Free PMC Article

Prognosis

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
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
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
Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W
Ann Hematol 2011 Jul;90(7):769-75. Epub 2011 Feb 8 doi: 10.1007/s00277-010-1153-4. PMID: 21302115
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

Clinical prediction guides

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
Al-Samkari H, van Beers EJ, Morton DH, Eber SW, Chonat S, Kuo KHM, Kollmar N, Wang H, Breakey VR, Sheth S, Sharma M, Forbes PW, Klaassen RJ, Grace RF
Blood Adv 2022 Mar 22;6(6):1844-1853. doi: 10.1182/bloodadvances.2021004675. PMID: 34470054Free PMC Article
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
Orosz F, Oláh J, Ovádi J
IUBMB Life 2006 Dec;58(12):703-15. doi: 10.1080/15216540601115960. PMID: 17424909
Zanella A, Fermo E, Bianchi P, Valentini G
Br J Haematol 2005 Jul;130(1):11-25. doi: 10.1111/j.1365-2141.2005.05527.x. PMID: 15982340

Recent systematic reviews

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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