REFERENCES
- Liebhaber SA, Cash FE, Ballas SK. Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis. J Biol Chem. 1986;261(32):15327–15333.
- Chan VW, Tang M, Lau K, Todd D, Chan TK. Molecular defects in Hb H hydrops foetalis. Br J Haematol. 1997;96(2):224–228.
- Ma SK, Chan AY, Chiu EK, Chan LC. Haemoglobin H disease due to (– –SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation: a family study. Clin Lab Haematol. 2001;23(5):325–327.
- Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041–5045.
- Clegg JB, Weatherall DJ, Milner PF. Haemoglobin Constant Spring – a chain termination mutant? Nature. 1971; 234(5328):337–340.
- Clegg JB, Weatherall DJ, Contopolou-Griva I, Caroutsos K, Poungouras P, Tsevrenis H. Haemoglobin Icaria, a new chain-termination mutant which causes α thalassaemia. Nature. 1974;251(5472):245–247.
- De Jong WW, Meera KP, Bernini LF. Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet. 1975;27(1):81–90.
- Waye JS, Eng B, Patterson M, Chui DHK, Olivieri NF. Identification of a novel termination codon mutation (TAA→TAT, Term→Tyr) in the α2 globin gene of a Laotian girl with Hemoglobin H disease. Blood. 1994;83(11):3418–3420.
- Higgs DR, Goodbourn SEY, Lamb J, Clegg JB, Weatherall DJ. α-Thalassaemia caused by a polyadenylation signal mutation. Nature. 1983;306(5941):398–400.
- Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101(3):791–800.
- 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.
- Chan AY, So CC, Ma ES, Chan LC. A laboratory strategy for genotyping haemoglobin H disease in the Chinese. J Clin Pathol. 2007;60(8):931–934.
- Chen P, Li SQ, Wu H. α2 Codon 30 deletion (ΔGAG) causing non-deletional Hemoglobin H disease in Guangxi province. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21(5):435–439.
- Liu YN, Li R, Zhou JY, Screening for mutations in the α-globin genes leading to abnormal hemoglobin variants with high resolution melting analysis. Clin Chem Lab Med. 2011;50(2):273–277.
- Wang W, Ma ES, Chan AY, Chui DHK, Chong SS. Multiple minisequencing screen for seven Southeast Asian nondeletional α-thalassemia mutations. Clin Chem. 2003;49(5):800–803.
- Eng B, Patterson M, Walker L, Chui DHK, Waye JS. Detection of severe nondeletional α-thalassemia mutations using a single-tube multiplex ARMS assay. Genet Test. 2001;5(4):327–329.