Molecular characterization of a novel 27.6-kb deletion causing α+ thalassemia in a Chinese family
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Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, Chen PY, Lu JP, Jia SQ, Xiao GF, Shen X, Li J, Chen HP, Xia YY, Wen YX, Mo QH, Li WD, Li YY, Zhuo LW, Wang ZQ, Chen YJ, Qin CH, Zhong M (2004) The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol 57:517–522
Cai R, Li L, Liang X, Liu Z, Su L, Li W, Zhu Q, Mo Q, Pan L, Ouyang H, Huang L, Xu X (2002) Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi. Zhonghua Liu Xing Bing Xue Za Zhi 23:281–285
Jia SQ, Li J, Mo QH, Liao C, Li LY, Xu XM (2004) Alpha0 thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated alpha globin genes. J Clin Pathol 57:164–167
Waye JS, Eng B, Chui DH (1992) Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual. Br J Haematol 80:378–380
Zhao JB, Zhao L, Fei YJ, Liu JC, Huisman TH (1991) A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease. Am J Hematol 38:248–249
Eng B, Walsh R, Walker L, Patterson M, Waye JS (2005) Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease. Hemoglobin 29:297–299
Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS (2003) Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications. Clin Chem 49:1679–1682
Kimura EM, Grignoli CR, Pinheiro VR, Costa FF, Sonati MF (2003) Thalassemia intermedia as a result of heterozygosis for beta 0-thalassemia and alpha alpha alpha anti-3, 7 genotype in a Brazilian patient. Braz J Med Biol Res 36:699–701
Chui DH, Fucharoen S, Chan V (2003) Hemoglobin H disease: not necessarily a benign disorder. Blood 101:791–800
Chen FE, Ooi C, Ha SY, Cheung BM, Todd D, Liang R, Chan TK, Chan V (2000) Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med 343:544–550
Kanavakis E, Papassotiriou I, Karagiorga M, Vrettou C, Metaxotou-Mavrommati A, Stamoulakatou A, Kattamis C, Traeger-Synodinos J (2000) Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. Br J Haematol 111:915–923
Laosombat V, Viprakasit V, Chotsampancharoen T, Wongchanchailert M, Khodchawan S, Chinchang W, Sattayasevana B (2009) Clinical features and molecular analysis in Thai patients with HbH disease. Ann Hematol 88:1185–1192
Origa R, Sollaino MC, Giagu N, Barella S, Campus S, Mandas C, Bina P, Perseu L, Galanello R (2007) Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes. Br J Haematol 136:326–332
Waye JS, Greenlay B, Eng B (2009) Novel 27.9 kb alpha(0)-thalassemia deletion in a Filipino woman. Am J Hematol 84:197–198