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標題: 台灣人血紅素基因病變血液學表徵與基因損害的 相關性
Correlation between hematological features and genetic lesions of hemoglobin gene disorders in Taiwanese patients
作者: 林惠茹
Lin, Hui-Ju
關鍵字: α-thalassemia;甲型地中海型貧血;β-thalassemia;hemoglobin variant;Taiwanese.;乙型地中海型貧血;變異血紅素;台灣人
出版社: 生命科學院碩士在職專班
引用: 1. Forget BG. Molecular Genetics of the Human Globin Genes. In: Steinbery MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge, United Kingdom: Cambridge University Press. 2001: 117-30. 2. Weatherall DJ, Clegg JB. The Thalassemia Syndromes, 4th ed. Blackwell Science, Oxford. 3. Old JM. Screening and Genetic Diagnosis of Hemoglobin Disorder. Blood 2003; 17(1): 43-53. 4. Higgs DR. Molecular Mechanisms of α-Thalassemia. In: Steinbery MH, Forget BG., Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, United Kingdom: Cambridge University Press. 2001: 405-30. 5. Ko TM, Ku X. Molecular Study and Prenatal Diagnosis of Alpha- and Beta-thalassemia in Chinese. J Formos Med Assoc 1998; 97(1): 5-15. 6. Ko TM, Tseng LH, Cheng TA, Hwa HL, Chang YK, Chuang SM, Lee TY. Prevalence and Molecular Studies of Thalassemia in Five Aboriginal Groups in Taiwan. J Formos Med Assoc 1994; 93(5): 379-82. 7. Lin CK, Lee SH, Wang CC, Jiang ML, Hsu HC. Alpha-thalassemia Traits are Common in the Taiwanese Population: Usefulness of a Modified Hemoglobin H Preparation for Prevalence Studies. J Lab Clin Med 1991; 118(6): 599-603. 8. Ko TM, Hsieh FJ, Chen CJ, Hsu PM, Lee TY. Cord blood Screening for α-thalassemia in Northern Taiwan. J Formos Med Assoc 1998; 87: 146-49. 9. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid Detection of Alpha-thalassemia Deletions and Alpha-globin Gene Triplication by Multiplex PCRs. Br J Haematol 2000; 108: 295-99. 10. Chang JG, Lee LS, Lin CP, Chen PH, Chen CP. Rapid Diagnosis of Alpha-thalassemia-1 of Southern Asia Type and Hydrops Fetalis by Polymerase Chain Reaction. Blood 1991; 78: 853-54. 11. Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid Diagnosis of β-Thalassemia Mutations in Chinese by Naturally and Amplified Created Restriction Sites. Blood 1992; 80: 2092-96. 12. Chiou SS, Liu TC, Tseng WP, Sy WD, Chang JG. Prenatal and Molecular Diagnosis o β- Thalassemia Major in Taiwan by Naturally and Amplified Created Restriction Sites. Int J Hematol 1993; 59: 1-8. 13. Peng CT, Liu SC, Chiou SS, Kuo PL, Shih MC, Chang JY, Chang JG. Molecular Characterization of Deletional Forms ofβ-Thalassemia in Taiwan. Ann Hematol 2003; 82(1): 33-6. 14. Chang JG, Yang TY, Perng LI, Wang NM, Peng CT, Tsai CH. Hb Siriraj: A G→A Substitution at Codon 7 of the β-Globin Chain Creates an MboII Cutting Site. Hemoglobin 1999; 23(2): 197-99. 15. Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Peng CT. Hb G-Chinese: A G→C Substitution at Codon 30 of theα2-Globin Gene and Creates a Pst I Cutting Site. Hemoglobin 2002; 26: 95-97. 16. Chang JG, Liu TC, Perng LI, Chiou SS, Chen TP, Chen TP, Lin CP. Rapid Molecular Characterization of Hb H Disease in Chinese by Polymerase Chain Reaction. Ann Hematol 1994; 68: 33-37. 17. Ko TM, Tseng LH, Kao CH, Lin YW, Hwa HL, Hsu PM, Li SF, Chuang SM. Molecular Characterization and PCR Diagnosis of Thailand Deletion of Alpha-globin Gene Cluster. Am J Hematol 1998; 57(2):124-30. 18. Chen TP, Liu TC, Chang CS, Chang JG, Tasi HJ, Lin SF. PCR-Based Analysis of α-Thalassemia in Southern Taiwan. Int J of Hematol 2002; 75: 277-80. 19. Chang JG, Liu TC, Chiou SS, Chen PH, Lee SS, Chen TP. Molecular Basis of β-Thalassemia Minor in Taiwan. Int J Hematol 1994; 59: 267-72. 20. Peng CT, Wu JY, Tsai CH, Tsai FJ, Chang JG. Molecular Diagnosis of Patients with Beta-thalassemia Major in Central Taiwan by Amplified Created Restriction Site Analysis. J Hum Genet 1998; 43: 237-41.
血紅素基因的病變是台灣常見的遺傳病之一,主要包括甲型、乙型地中海型貧血及變異血紅素。在這篇論文中,我們收集還分析了930個血紅素基因病變的病人檢體,但不包括水胎(Hb Barts hydrops)及重型乙型海洋性貧血;在930位病人中,有650位為甲型地中海型貧血;225位為乙型地中海型貧血;9位為甲型地中海型貧血合併乙型地中海型貧血;及46位為變異學紅素或變異血紅素合併甲型或乙型地中海型貧血。
我們的結果顯示,甲型地中海型貧血中,以α0-thalassemia的東南亞型缺損(α0-thalassemia of SEA type)及α+- thalassemia的α3.7缺損最常見;而乙型地中海型貧血以IVS-2 nt 654 C→T mutation最常見。而變異血紅素最常見的為HbCS和HbG-Taichung.。
我們比較不同血紅素基因病變的基因型及血液學表徵的相關性,發現α0-thalassemia的不同基因型具有相似的臨床表徵;β+突變或β+突合併α0-thalassemia的Hb及MCV比β0突變或是β0突變合併α0-thalassemia高。而乙型地中海型貧血和乙型地中海型貧合併α0-thalassem的血液學表徵則無不同。α0-thalassemia合併β globin變異或是乙型地中海型貧血合併α-globin變異的血液學表徵和α0-thalassemia或是乙型地中海型貧血相似。甲型地中海型貧性合併α-globin變異或是乙型地中海型貧血合併β globin變異的血液學表徵決定變異的形式。在臨床上乙型地中海型貧血的點突變和乙型地中海型貧血的HPFH of SEA type缺損是不嚴重的,所以病人不需要輸血。

Hemoglobin (Hb) gene disorders are one of most common inherited diseases in Taiwan, which includes α-thalassemia, β-thalassemia, and associated hemoglobin variants. In this study, we collected and analyzed mutations found in 930 patients of hemoglobin gene disorders except for Hb Bart's Hydrops and β-thalassemia major. The patients included 650 cases of α-thalassemia, 225 cases of β-thalassemia, 9 cases of α-thalassemia combined with β-thalassemia, and 46 cases of Hb variants or Hb variants combined with α-thalassemia or β-thalassemia. Our results showed that the most common type of α-thalassemia and α-thalassemia mutation is SEA type deletion and α3.7 deletion, respectively, and the most common type of β-thalassemia mutation is the IVS-2 nt 654 C→T mutation, and the most common Hb variant is the HbCS and HbG-Taichung. We compared the relationship between the genotypes and the hematological phenotypes of different hemoglobin gene disorders and found that different genotypes of α0-thalassemia have similar hematological features; β+ mutation or β+ combined α0 -thalassemia has higher Hb and MCV than β0 mutation or β0 with α0 -thalassemia. There is no difference between β-thalassemia and β-thalassemia with α0-thalassemia. The hematological features of α0 -thalassemia with β-globin variant or β-thalassemia with α-globin variant is similar with α0-thalassemia or β-thalassemia, respectively. The hematological features of α-thalassemia with α-globin variant or β-thalassemia with β-globin variant are dependent on the character of the variant form. The clinical features of point mutation of β-thalassemia with deletional mutation of HPFH of SEA type of β-thalassemia are usually not severe, and the patients may not require transfusion. In conclusion, our study provide a useful data for clinicians to evaluate patients of hemoglobin gene disorder.
其他識別: U0005-1408200615353600
Appears in Collections:生命科學系所

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