References
- Lin M, Wang Q, Zheng L, et al. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin Genet. 2012;81(2):165–171.
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(Database issue):D1063–D1069. (http://globin.cse.psu.edu)
- Oniyangi O, Cohall DH. Phytomedicines (medicines derived from plants) for sickle cell disease. Cochrane Database Syst Rev. 2018;2:CD004448
- Piel FB, Steinberg MH, Rees DC. Sickle cell disease. N Engl J Med. 2017;376(16):1561–1573.
- Sabath DE. Molecular diagnosis of thalassemias and hemoglobinopathies: an ACLPS critical review. Am J Clin Pathol. 2017;148(1):6–15.
- Jorge SE, Bringas M, Petruk AA, et al. Understanding the molecular basis of the high oxygen affinity variant human hemoglobin Coimbra. Arch Biochem Biophys. 2018;637:73–78.
- Kutlar F, Hilliard LM, Zhuang L, et al. Hb M Dothan [β25/26(B7/B8)/(GGT/GAG→GAG//Gly/Glu→Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics. Blood Cells Mol Dis. 2009;43(3):235–238.
- Collier AB, 3rd, Coon LM, Monteleone P, et al. A novel β-globin chain hemoglobin variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], associated with low oxygen saturation, intermittent aplastic crises and splenomegaly. Hemoglobin. 2016;40(2):130–133.
- Shang X, Peng Z, Ye Y, et al. Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. Ebiomedicine. 2017;23:150–159.
- Scheps KG, Hasenahuer MA, Parisi G, et al. Hb Wilde and Hb Patagonia: two novel elongated β-globin variants causing dominant β-thalassemia. Eur J Haematol. 2015;94(6):498–503.
- Guermeur Y. Combinaison de classifieurs statistiques; application à la prédiction de la structure sécondaire des proteins [PhD Thesis]. J Changchun Norm Univ. 1997, p. 127–130.
- Nair S, Eldjerou LK, Harris NS, et al. Rare form of autosomal dominant thalassemia – Hemoglobin Hakkari. Pediatr Blood Cancer. 2014;61(11):2118–2120.
- Préhu C, Pissard S, Al-Sheikh M, et al. Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (–T)] and codon 127 [CAG→TAG (Gln→Stop)]. Hemoglobin. 2005;29(3):229–233.
- Akbari MT, Hamid M, Izadyar M. Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family. Ann Hematol. 2011;90(3):349–351.
- Weinstein BI, Erramouspe B, Albuquerque DM, et al. Hb Florida: a novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype. Am J Hematol. 2006;81(5):358–360.
- Ivaldi G, David O, Baffico M, et al. Hb Trento: an elongated C-terminal β chain due to a new frameshift mutation β144 (–A). Hemoglobin. 2003;27(1):15–25.
- Efremov GD, Simjanovska L, Plaseska-Karanfilska D, et al. Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia. Acta Haematol. 2007;117(1):1–7.
- Chen D, Zuo Y, Zhang X, et al. A genetic variant ameliorates β-thalassemia severity by epigenetic-mediated elevation of human fetal hemoglobin expression. Am J Hum Genet. 2017;101(1):130–138.
- Danjou F, Francavilla M, Anni F, et al. A genetic score for the prediction of beta-thalassemia severity. Haematologica. 2015;100(4):452–457.
- Bauer DE, Kamran SC, Lessard S, et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013;342(6155):253–257.
- Liu D, Zhang X, Yu L, et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood. 2014;124(5):803–811.
- Perkins A, Xu X, Higgs DR, et al. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood. 2016;127(15):1856–1862.
- Taylor SM, Cerami C, Fairhurst RM. Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis. PLoS Pathog. 2013;9(5):e1003327.