α-地中海贫血

Higgs DR, Bowden DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:431-469.

Pootrakul P, Sirankapracha P, Hemsorach S, et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood. 2000;96:2606-2612.

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Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood. 1989;74:2194-2202.

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Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101:791-800.

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Lal A, Goldrich ML, Haines DA, et al. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. 2011;364:710-718.

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2.  Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008;7:1045-1053.

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3.  Vichinsky E. Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy. Ann N Y Acad Sci. 2010;1202:180-187.

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4.  Harteveld CL, Higgs DR. Alpha-thalassemia. Orphanet J Rare Dis. 2010;5:13.

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5.  Chen FE, Ooi C, Ha SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000;343:544-550.

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9.  Higgs DR, Bowden DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:431-469.

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11.  Lorey F, Cunningham G, Vichinsky EP, et al. Universal newborn screening for Hb H disease in California. Genet Test. 2001;5:93-100.

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12.  Chan V, Chan VW, Tang M, et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997;96:224-228.

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13.  Chui DH, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood. 1998;91:2213-2222.

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14.  Gibbons RJ, Brueton L, Buckle VJ, et al. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet. 1995;55:288-299.

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17.  Steensma DP, Gibbons RJ, Higgs DR. Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood. 2005;105:443-452.

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18.  Flint J, Hill AV, Bowden DK, et al. High frequencies of alpha-thalassaemia are the result of natural selection by malaria. Nature. 1986;321:744-750.

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19.  Bernini LF. Geographic distribution of alpha thalassemia. In: Steinberg M, Forget B, Higgs D, et al, eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:878-894.

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21.  Beutler E, West C. Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. Blood. 2005;106:740-745.

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23.  Benesch RE, Ranney HM, Benesch R, et al. The chemistry of the Bohr effect: some properties of hemoglobin H. J Biol Chem. 1961;236:2926-2929.

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26.  Pootrakul P, Sirankapracha P, Hemsorach S, et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood. 2000;96:2606-2612.

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27.  Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood. 1989;74:2194-2202.

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28.  Schrier SL, Bunyaratvej A, Khuhapinant A, et al. The unusual pathobiology of hemoglobin constant spring red blood cells. Blood. 1997;89:1762-1769.

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32.  Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101:791-800.

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33.  Wu JH, Shih LY, Kuo TT, et al. Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. Am J Hematol. 1992;41:285-288.

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37.  Liu JZ, Han H, Schouten JP, et al. Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. Hemoglobin. 2008;32:561-571.

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38.  Northern California Comprehensive Thalassemia Center. Standards of care guidelines for thalassemia. 2012. http://thalassemia.com/ (last accessed 11 April 2017).

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39.  Wood JC. Diagnosis and management of transfusion iron overload: the role of imaging. Am J Hematol. 2007;82:1132-1135.

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40.  Yin XL, Zhang XH, Zhou TH, et al. Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. Acta Haematol. 2010;124:86-91.

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41.  Fucharoen G, Trithipsombat J, Sirithawee S, et al. Molecular and hematological profiles of hemoglobin EE disease with different forms of alpha-thalassemia. Ann Hematol. 2006;85:450-454.

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45.  Leung TN, Lau TK, Chung T. Thalassaemia screening in pregnancy. Curr Opin Obstet Gynecol. 2005;17:129-134.

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46.  Dormandy E, Bryan S, Gulliford MC, et al. Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial. Health Technol Assess. 2010;14:1-160.

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47.  Langlois S, Ford JC, Chitayat D, et al; CCMG Prenatal Diagnosis Committee; SOGC Genetic Committee. Carrier screening for thalassemia and hemoglobinopathies in Canada. J Obstet Gynaecol Can. 2008;30:950-959.

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48.  Dormandy E, Gulliford M, Bryan S, et al. Effectiveness of earlier antenatal screeningfor sickle cell disease and thalassaemia in primary care: cluster randomised trial. BMJ. 2010;341:c5132.

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49.  ACOG Committee on Obstetrics. ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy. Obstet Gynecol. 2007;109:229-237.

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50.  Tongsong T, Wanapirak C, Sirichotiyakul S, et al. Sonographic markers of hemoglobin Bart disease at midpregnancy. J Ultrasound Med. 2004;23:49-55.

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51.  Li X, Zhou Q, Zhang M, et al. Sonographic markers of fetal α-thalassemia major. J Ultrasound Med. 2015;34:197-206.

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52.  Society for Maternal-Fetal Medicine; Norton ME, Chauhan SP, Dashe JS. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015;212:127-139.

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55.  Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011742.

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56.  Lal A, Goldrich ML, Haines DA, et al. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. 2011;364:710-718.

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58.  Hsu HC, Lin CK, Tsay SH, et al. Iron overload in Chinese patients with hemoglobin H disease. Am J Hematol. 1990;34:287-290.

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59.  Tso SC, Loh TT, Chen WW, et al. Iron overload in thalassaemic patients in Hong Kong. Ann Acad Med Singapore. 1984;13:487-490.

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60.  Kattamis A, Papassotiriou I, Palaiologou D, et al. The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica. 2006;91:809-812.

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61.  Lin CK, Lin JS, Jiang ML. Iron absorption is increased in hemoglobin H diseases. Am J Hematol. 1992;40:74-75.

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62.  Taher A, Vichinsky E, Musallam K, et al; Thalassaemia International Federation. Guidelines for the management of non transfusion dependent thalassaemia (NTDT). 2013. http://www.ncbi.nlm.nih.gov/ (last accessed 11 April 2017).

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63.  Musallam KM, Cappellini MD, Taher AT. Evaluation of the 5mg/g liver iron concentration threshold and its association with morbidity in patients with β-thalassemia intermedia. Blood Cells Mol Dis. 2013;51:35-38.

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64.  Taher A, Porter J, Viprakasit V, et al. Estimation of liver iron concentration by serum ferritin measurement in non-transfusion-dependent thalassemia patients: analysis from the 1-year THALASSA study. Haematologica. 2012;97(s1):383.

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65.  Taher AT, Porter J, Viprakasit V, et al. Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. Blood. 2012;120:970-977.

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66.  Taher AT, Porter JB, Viprakasit V, et al. Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study. Ann Hematol. 2013;92:1485-1493.

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67.  US Food and Drug Administration. Exjade (deferasirox): boxed warning. http://www.fda.gov/ (last accessed 11 April 2017).

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68.  Chan JC, Chim CS, Ooi CG, et al. Use of the oral chelator deferiprone in the treatment of iron overload in patients with Hb H disease. Br J Haematol. 2006;133:198-205.

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69.  Xia S, Zhang W, Huang L, et al. Comparative efficacy and safety of deferoxamine, deferiprone and deferasirox on severe thalassemia: a meta-analysis of 16 randomized controlled trials. PLoS One. 2013;8:e82662.

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70.  Cappellini MD, Cohen A, Piga A, et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood. 2006;107:3455-3462.

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72.  Schrier S. New treatment options for thalassemia. Clin Adv Hematol Oncol. 2004;2:783-784.

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76.  Singer ST, Wu V, Mignacca R, et al. Alloimmunization and erythrocyte autoimmunization in transfusion-dependent thalassemia patients of predominantly Asian descent. Blood. 2000;96:3369-3373.

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82.  Vichinsky E. Clinical application of deferasirox: practical patient management. Am J Hematol. 2008;83:398-402.

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83.  Price VE, Dutta S, Blanchette VS, et al. The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer. 2006;46:597-603.

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86.  Higgs DR, Bowden DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:431-469.

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91.  Singer ST, Vichinsky EP, Sweeters N, et al. Darbepoetin alfa for the treatment of anaemia in alpha- or beta- thalassaemia intermedia syndromes. Br J Haematol. 2011;154:281-284.

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93.  Zhou X, Ha SY, Chan GC, et al. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant. 2001;28:105-107.

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94.  Gibbons RJ, Higgs DR. The alpha thalassemia/mental retardation syndromes. In: Steinberg M, Forget B, Higgs DR, et al, eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:470-488.

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96.  Cunningham MJ, Macklin EA, Neufeld EJ, et al. Complications of beta-thalassemia major in North America. Blood. 2004;104:34-39.

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