Koralkova P, Van Solinge WW, Van Wijk R (2014) Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol 36(3):388–97

Article  PubMed  CAS  Google Scholar 

Baughan M, Valentine W, Paglia D, Ways P, Simons E, DeMarsh Q (1968) Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency–a new enzyme defect of human erythrocytes. Blood 32(2):236–249

Article  PubMed  CAS  Google Scholar 

Zhu D, Liang G, Zhang Y, Wei X, Wu X, Shang X (2023) Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: correction of misdiagnosis and consideration of the cause of misdiagnosis. Br J Haematol 200(1):e8–e12

Article  PubMed  Google Scholar 

Wang Y, Liu T, Liu J, Xiang Y, Huang L, Li J et al (2023) The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis. BMC Med Genomics 16(1):162

Article  PubMed  Google Scholar 

Prabhakar SK, Rashmi D, Pooja C, Vinod G, Ashish C, Rati D et al (2019) Glucose phosphate isomerase deficiency: high prevalence of p.Arg347His mutation in Indian population associated with severe hereditary non-spherocytic hemolytic anemia coupled with neurological dysfunction. Indian J Pediatr 86(8):692–99

Article  Google Scholar 

Elisa F, Cristina V, Anna Paola M, Anna Z, Selin A, Mualla C et al (2019) Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 New Cases. Front Physiol 10:467

Article  Google Scholar 

Wing-Shan QS, Chi-Chiu JS, Daniel Ka-Leung C, Richard VW, Shau-Yin H (2020) Congenital hemolytic anemia because of glucose phosphate isomerase deficiency: identification of 2 novel missense mutations in the GPI gene. J Pediatr Hematol Oncol 42(7):e696-7

Article  Google Scholar 

Zhenqi S, Kongjian W, DjandanTadum A, Zhongwen T, Feng X, Jie W et al (2022) Case report: glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head. Front Pediatr 10:909752

Article  Google Scholar 

Park H, Haller J, Smith F, Parkin N, Lythe T, Zoeller R et al (2020) Attenuation of hemolysis due to glucose-6-phosphate isomerase deficiency with ketogenic diet - a case report. HemaSphere 4(1):e328

Article  PubMed  Google Scholar 

Przepiorka D, Weisdorf D, Martin P, Klingemann HG, Beatty P, Hows J, Thomas ED et al (1995) 1994 consensus conference on acute GVHD grading. Bone Marrow Transplant 15(6):825–8

PubMed  CAS  Google Scholar 

Robin S, Sebastian P, Markus S, David NC, Jana Marie S, Dominik S (2021) MutationTaster2021. Nucleic Acids Res 49(W1):W446–W451

Article  Google Scholar 

Ngak-Leng S, Prateek K, Jing H, Steven H, Georg S, Pauline CN (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452–W457

Article  Google Scholar 

Ivan AA, Steffen S, Leonid P, Vasily ER, Anna G, Peer B et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249

Article  Google Scholar 

Andrew W, Martino B, Stefan B, Gabriel S, Gerardo T, Rafal G et al (2018) SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res 46(W1):W296–W303

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424

Article  PubMed  PubMed Central  Google Scholar 

Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N (2022) Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report. Int J Hematol 115(2):255–262

Article  PubMed  CAS  Google Scholar 

Licínio M, Celeste B, Bruno LV, Janet P, Luís R, Rui MB et al (2016) Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: clinical features and molecular study. Blood Cells Mol Dis 60:18–23

Article  Google Scholar 

Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W et al (1997) Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. Eur J Pediatr 156(8):605–609

Article  PubMed  CAS  Google Scholar 

Weatherall D (1997) The thalassaemias. BMJ 314(7095):1675–1678

Article  PubMed  CAS  Google Scholar 

GrudaSussman R, Yan A, Baker J (2023) Glucose 6 phosphate isomerase deficiency, a rare hemolytic anemia misdiagnosed as hereditary spherocytosis. J Pediatr Hematol Oncol 45(1):41–43

Article  Google Scholar 

Adama van Scheltema P, Zhang A, Ball L, Steggerda S, van Wijk R, Fransen van de Putte D et al (2015) Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report. Clin Case Rep 3(10):862–865

Article  PubMed  Google Scholar 

Weledji E (2014) Benefits and risks of splenectomy. Int J Surg 12(2):113–119

Article  PubMed  Google Scholar 

Marta M, Ana María V, Silvia DLI, Jorge M-N, Rafael DOB, David B et al (2021) Consensus document for the diagnosis and treatment of pyruvate kinase deficiency. Med Clin 157(5):253.e1-e8

Google Scholar 

Emeline M, Marlène SL, Paul M, Serge P, Bertrand L, Agnès M et al (2022) Prenatal management of fetal anemia due to pyruvate kinase deficiency: a case report. Transfusion 63(1):257–262

Google Scholar 

van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra I et al (2018) Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency. Haematologica 103(2):e82–e86

Article  PubMed  Google Scholar 

Catherine JL, Soyoung K, Heather RT, Stephanie B-S, Rachel P, Ruta B et al (2020) Late effects after ablative allogeneic stem cell transplantation for adolescent and young adult acute myeloid leukemia. Blood Adv 4(6):983–992

Article  Google Scholar