REFERENCES
- 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).
- Xu XM, Zhou YQ, Luo GX, The prevalence and spectrum of α and β thalassemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517–522.
- Cai R, Li L, Prevalence survey and molecular characterization of α and β thalassemia in Liuzhou city of Guangxi. Zhonghua Liu Xing Bing Xue Za Zhi. 2002;23(4):281–285.
- Zeng YT, Huang SZ, Chen B, Hereditary persistence of fetal hemoglobin or (δβ)0-thalassemia: three types observed in South-Chinese families. Blood 1985;66(6):1430–1435.
- Zhang XQ, Zhang JW. The 3’ breakpoint of the Yunnanese (Aγδβ)0-thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion an d the reactivation of the Gγ-globin gene. Hum Genet. 1998;103(1):90–95.
- Huang CH, Chang YY, Chen CH, Ko TM. Molecular characterization of a β-globin gene deletion of 1357 bp in a Taiwanese β-thalassemia carrier. Hemoglobin. 2008;32(5):498–504.
- So CC, So AC, Chan AY, Tsang ST, Ma ES, Chan LC. Detection and characterization of β-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. J Clin Pathol. 2009;62(12):1107–1111.
- Kleihauer E, Braun H, Betke K. Demonstration of fetal hemoglobin in erythrocytes of a blood smear. Klin Wochenschr. 1957;35(12):637–638.
- Alter BP, Goff SC, Efremov GD, Gravely ME, Huisman THJ. Globin chain electrophoresis: a new approach to the determination of the Gγ/Aγ ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol. 1980;44(4):527–534.
- Chan V, Yam I, Chen FE, Chan TK. A reverse dot-blot method for rapid detection of non-deletion α thalassaemia. Br J Haematol. 1999;104(3):513–515.
- Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362.
- Zhang JZ, Xu XM, Ma WF, Peng ZH. Reverse dot blot analysis: a rapid prenatal diagnostic approach for β-thalassemia mutations in Chinese. Chin Sci Bull. 1994;39(19):1659–1662.
- Forget BG. Molecular basis of hereditary persistence of fetal hemoglobin. Ann NY Acad Sci. 1998;850:38–44.
- Guida V, Cappabianca MP, Colosimo A, Rafanelli F, Amato A, Dallapiccola B. Influence of Gγ −158 C>T and β (AT)x(T)y-globin gene polymorphisms on Hb F levels in Italian β-thalassemia carriers and wild-type subjects. Haematologica. 2006;91(9):1275–1276.
- Lee YJ, Park SS, Kim JY, Cho HI. RFLP haplotypes of β-globin gene complex of β-thalassemia chromosomes in Koreans. J Korean Med Sci. 2002;17(4):475–478.
- Mo QH, Li XR, Li CF, He YL, Xu XM. A novel frameshift mutation (+G) at codons 15/16 in a β0 thalassemia gene results in a significant reduction of β globin mRNA values. J Clin Pathol. 2005;58(9):923–926.
- Efremov GD, Filipce V, Gjorgovski I, GγAγ(δβ)0-thalassaemia and a new form of γ-globin gene triplication identified in the Yugoslavian population. Br J Haematol. 1986;63(1):17–28.
- Manca L, Masala B. Disorders of the synthesis of human fetal hemoglobin. IUBMB Life. 2008;60(2):94–111.
- Padanilam BJ, Felice AE, Huisman THJ. Partial deletion of the 5’ β0-thalassemia in members of an American Black family. Blood. 1984;64(4):941–944.
- Ho PJ, Thein SL. Gene regulation and deregulation: a β globin perspective. Blood Rev. 2000;14(2):78–93.
- Stamatoyannopoulos G. Control of globin gene expression during development and erythroid differentiation. Exp Hematol. 2005;33(3):259–271.
- Lloyd JA, Krakowsky JM, Crable SC, Lingrel JB. Human γ- to β-globin gene switching using a mini construct in transgenic mice. Mol Cell Biol. 1992;12(4):1561–1567.
- Liu JZ, Gilman JG, Cao Q, Bakioglu I, Huisman THJ. Four categories of γ-globin gene triplications: DNA sequence comparison of low Gγ and high Gγ triplications. Blood. 1988;72(2):480–484.
- Yang KG, Liu JZ, Kutlar F, β0-Thalassemia in association with a γ-globin gene quadruplication. Blood. 1986;68(6):1394–1397.
- Dimovski AJ, Efremov DG, Jankovic L, Plaseska D, Juricic D, Efremov GD. A β0-thalassaemia due to a 1605 bp deletion of the 5’ β-globin gene region. Br J Haematol. 1993;85(1):143–147.