REFERENCES
- Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu).
- Giardine B, van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206 (http://globin.cse.psu.edu).
- Chen FE, Ooi C, Ha SY, Genetic and clinical features of Hemoglobin H disease in Chinese patients. N Engl J Med. 2000;343(8):544–550.
- Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275–281.
- Traeger-Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis C, Bernini LF. Hb Aghia Sophia [α62(E11)Val→0 (α1)], an “in-frame” deletion causing α-thalassemia. Hemoglobin. 1999;23(4):317–324.
- Dimisianos G, Traeger-Synodinos J, Vrettou C, Papassotiriou I, Kanavakis E. A rare 33 bp in-frame deletion (α63-74 or α64-74 or α65-75) in the α1-globin gene causing α+-thalassemia: a second observation. Hemoglobin. 2004;28(2):137–143.
- Douna V, Papassotiriou I, Metaxotou-Mavrommati A, Further identification of the hyperunstable α-globin chain variant Hb Heraklion [codons 36/37 (–CCC); Pro→0 (α1)] in Greek cases with co-inherited α+-thalassemia mutations. Hemoglobin. 2008;32(4):379–385.
- Douna V, Liapi D, Kampourakis D, First observation of Hb Taybe [codons 38/39 (–ACC) Thr→0 (α1)] in Greece: clinical and hematological findings in patients with co-inherited α+-thalassemia mutations. Hemoglobin. 2008;32(4):371–378.
- Wajcman H, Préhu MO, Préhu C, Blouquit Y, Promé D, Galactéros F. Hemoglobin Phnom Penh [α117Phe(H1)-Ile-α118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the α1-globin gene. Hum Mutat. 1998;Suppl 1:S20–22.
- Müller-Wieland D, van der Vorm ER, Streicher R, An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. Diabetologia. 1993;36(11):1168–1174.
- Imbrici P, Eunson LH, Graves TD, Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005;65(6):944–946.
- Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann’s corneal dystrophy. Br J Ophthalmol. 2004;88(6):752–756.
- Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. Heterogeneity of Hemoglobin H disease in childhood. N Engl J Med. 2011;364(8):710–718.