| Summary: | 碩士 === 中國醫藥大學 === 醫學檢驗生物技術學系碩士班 === 98 === Over more than one thousand paper about hemoglobin (Hb) variant has been published. Hemoglobin’s diseases, including alpha-thalassemia, beta-thalassemia and other variations, are common genetic diseases in Taiwan. Most genetic variation is usually α or β chain gene chain gene mutation. For this reason our government began promoting pregnant women since 1993, thalassemia, the health policy making severe beta- thalassemia the prevalence of anemia in patients also averaged from 1991 to 1996 was 52.3 per million, reduced from 1999 to 2003 of 11.6 ppm. Patients with severe beta-thalassemia carrier rate in Taiwan, about 5% to 8%, and this genetic blood disease in the world is most widely distributed, the highest incidence, but also the most common single gene genetic disease. As the relatively low cost, of hemoglobin in cellulose membrane or agarose gel electrophoresis is still the most widely used of clinical hospital, but electrophoresis technology for some variant of hemoglobin that can not be detected. In view of this current is often used in clinical screening methods, including hemoglobin electrophoresis and high pressure liquid chromatography (HPLC). These two methods, although being widely used in many clinical laboratories, but for confirm hemoglobin variants are no absolute definite answer that unless the use of amino acids sequencing or DNA sequencing confirm test.
From the beginning of the 1990s the technology of proteomics test more of the skilled, MS now has been quickly applied to the analysis of the protein hemoglobin. Recently, ESI-MS electrospray ionization mass spectrometry (ESI-MS) and matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF) has been mainly in the qualitative detection of Hb variants analysis tools. Our study is the use of MALDI-TOF, the analytical procedure is simple, it can accurately analyze the amino acid sequence (equivalent to the accuracy of the analysis to the DNA sequence), and the analysis of samples need less, and many other advantages for Taiwan’s common hemoglobin variant study.
The results show that in our analysis of 42 cases of variant hemoglobin in these cases, 12 cases of Hb Phnom-Penh for about 28.6%, 8 cases of Hb E about 19.0%, 10 cases of Hb J-meinung (J-Bangkok) about 23.8%, 5 cases of Hb H accounted for about 11.9%, other 3 patients with Hb Constant Spring (Hb CS), 3 cases of Hb Owari about 7.1%, and Hb G-Taichung (Q-Thailand), Hb Prato, Hb Westmead, Hb Woodville 1 case each for each 2.4% of all cases of use of MALDI-TOF analysis of DNA sequencing can be confirmed with the same results, the above results of this study, we hope to establish by MALDI-TOF common in Taiwan Analysis of the Hemoglobin variation database for clinical screening as a future alternative variant hemoglobin.
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