Globin Gene Server home page. https://globin.bx.psu.edu/.

Hattori Y, Harano A. Abnormal hemoglobin and thalassemia. Nippon Rinsho. 2001;59:437–51.

PubMed  Google Scholar 

Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013;3: a011858.

PubMed  PubMed Central  Google Scholar 

Wajcman H, Préhu C, Bardakdjian-Michau J, Promé D, Riou J, Godart C, et al. Abnormal hemoglobins: laboratory methods. Hemoglobin. 2001;25:169–81.

CAS  PubMed  Google Scholar 

Villegas A, Ropero P, Nogales A, González FA, Mateo M, Mazo E, et al. Hb Santander [beta34(B16)Val→Asp (GTC→GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient. Hemoglobin. 2003;27:31–5.

CAS  PubMed  Google Scholar 

Blouquit Y, Braconnier F, Cohen-Solal M, Földi J, Arous N, Ankri A, et al. Hemoglobin Pitie-salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. Biochim Biophys Acta. 1980;624:473–8.

CAS  PubMed  Google Scholar 

Uchida T, Kinoshita T, Hirabayashi N, Saito H, Harano K, Harano T. Hemoglobin Pitié-Salpétrière [beta 34 (B16) Val→Phe] showing erythrocytosis and mild hemolysis in a Japanese man. Int J Hematol. 2000;71:221–6.

CAS  PubMed  Google Scholar 

Tavakoli J, Ho G, Kavecansky J, Pai AP. A new high affinity hemoglobin variant: Hb San Francisco-KP (HBB: c.104T>C). Hemoglobin. 2021;45:154–6.

CAS  PubMed  Google Scholar 

Wajcman H, Bardakdjian-Michau J, Riou J, Préhu C, Kister J, Baudin-Creuza V, et al. Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val→Leu] and Hb Vexin [beta116(G18)His→Leu]. Hemoglobin. 2003;27:191–9.

CAS  PubMed  Google Scholar 

Kavanaugh JS, Weydert JA, Rogers PH, Arnone A, Hui HL, Wierzba AM, et al. Site-directed mutations of human hemoglobin at residue 35beta: a residue at the intersection of the alpha1beta1, alpha1beta2, and alpha1alpha2 interfaces. Protein Sci. 2001;10:1847–55.

CAS  PubMed  PubMed Central  Google Scholar 

Dosunmu-Ogunbi AM, Wood KC, Novelli EM, Straub AC. Decoding the role of SOD2 in sickle cell disease. Blood Adv. 2019;3:2679–87.

CAS  PubMed  PubMed Central  Google Scholar 

Winterbourn CC. Oxidative denaturation in congenital hemolytic anemias: the unstable hemoglobins. Semin Hematol. 1990;27:41–50.

CAS  PubMed  Google Scholar 

Sklar GE. Hemolysis as a potential complication of acetaminophen overdose in a patient with glucose-6-phosphate dehydrogenase deficiency. Pharmacotherapy. 2002;22:656–8.

PubMed  Google Scholar 

Elyassi AR, Rowshan HH. Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. Anesth Prog. 2009;56:86–91.

PubMed  PubMed Central  Google Scholar 

Tamary H, Aviner S, Freud E, Miskin H, Krasnov T, Schwarz M, et al. High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol. 2003;25:952–4.

PubMed  Google Scholar 

Paschoudi K, Yannaki E, Psatha N. Precision editing as a therapeutic approach for β-hemoglobinopathies. Int J Mol Sci. 2023;24:9527.

CAS  PubMed  PubMed Central  Google Scholar 

Drysdale CM, Nassehi T, Gamer J, Yapundich M, Tisdale JF, Uchida N. Hematopoietic-stem-cell-targeted gene-addition and gene-editing strategies for β-hemoglobinopathies. Cell Stem Cell. 2021;28:191–208.

CAS  PubMed  Google Scholar