Chronic non-spherocytic hemolytic anemia

MedGen UID:: 632794
•Concept ID:: C0472790
•: Disease or Syndrome

Synonym:	CNSHA - Chronic non-spherocytic hemolytic anemia
SNOMED CT:	CNSHA - Chronic non-spherocytic hemolytic anemia (234402007); Chronic non-spherocytic hemolytic anemia (234402007)

Professional guidelines

PubMed

Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.

Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF
Lancet Haematol 2024 Mar;11(3):e228-e239. Epub 2024 Feb 5 doi: 10.1016/S2352-3026(23)00377-0. PMID: 38330977

Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.

Morado M, Villegas AM, de la Iglesia S, Martínez-Nieto J, Del Orbe Barreto R, Beneitez D, Salido E; en representación del Grupo Español de Eritropatología
Med Clin (Barc) 2021 Sep 10;157(5):253.e1-253.e8. Epub 2021 Jan 9 doi: 10.1016/j.medcli.2020.10.018. PMID: 33431182

Pyruvate kinase deficiency: the genotype-phenotype association.

Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G
Blood Rev 2007 Jul;21(4):217-31. Epub 2007 Mar 13 doi: 10.1016/j.blre.2007.01.001. PMID: 17360088

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Recent clinical studies

Etiology

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.

Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Eandi Eberle S, Pepe C, Chaves A, Aguirre F, Milanesio B, Fernández D, Ávalos Gómez V, Sciuccati G, Díaz LA, Candas A, Cervio C, Bonduel M, Feliu Torres A
Arch Argent Pediatr 2019 Aug 1;117(4):263-270. doi: 10.5546/aap.2019.eng.267. PMID: 31339274

Glucose-6-phosphate dehydrogenase deficiency in India.

Mohanty D, Mukherjee MB, Colah RB
Indian J Pediatr 2004 Jun;71(6):525-9. doi: 10.1007/BF02724295. PMID: 15226563

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Diagnosis

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.

Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.

Mañú Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, López Lafuente A, Kalko SG, García Mateos E, Beutler E, Vives Corrons JL
Haematologica 2007 Nov;92(11):e102-5. doi: 10.3324/haematol.11238. PMID: 18024385

A case of congenital dyserythropoietic anemia in a male Chinese.

Szeto SC, Ng CS
Pathology 1986 Jan;18(1):165-8. doi: 10.3109/00313028609090849. PMID: 3725428

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