碩士 / 中國醫藥大學 / 醫學檢驗生物技術學系 / 96 / Thalassemias and Hb variant are important Hb gene disorders.Those multiple variabilities of gene rearrangement have great deal with diagnosis of these gene disorders.All these information are helpful to performance for clinicians and public health government establishing prevention policies .
In this study, we collect 2,141 cases of hemoglobin gene disorders from
2000 to 2007.We detect and analyze those gene abnormalities of these
2141 cases,then investigate and discuss their variation of clinical symptoms. Hb variants were done with electrophoresis by automated HPLC; Thalassemias typing were detected using the PCR and RFLP; Clinical approach include:Hb, MCV determination and blood transfusion.
The patients included 1,506 cases(71%) of α- thalassemias, 499 cases (23%)of β-thalassemias, 52 cases (2%)of complex hemoglobin gene disorder,and 84cases (4%)of Hb variants. 65 cases of β-Thalassemias Major Mutations had regular transfusions to maintain pretransfusional haemoglobin levels between 9 and 10 g/dl.Our results showed that the most common type of α-thalassemias mutation is SEA type deletion (1150 cases, 76.37%),the most common type of β-thalassemias mutation is the IVS-2nt 654 C→T mutation(204 cases, 40.88%), the most common type of complex hemoglobin gene disorder is the α-thalassemias combined with β-thalassemias(21 cases,87.50%),and 37cases (44.05%) of the most common type of Hb variants is unstable β variant Hb E.
In 2004 our team found the clinical features of α-thalassemias (except Hb H disease) or minor β-thalassemias are usually not severe, thalassemias minor with stable variant Hb,the hematological features are similar to thalassemias minor;but the combined Hb variant is unstable,the hematological features would aggravate severe clinical symptom. Hemoglobin E is a very common abnormal hemoglobin in the Southeast Asian population, and when paired with a β0-thalassemias mutation,can produce severe transfusion - dependent (βEβ0) thalassemias children.We recently observed some variants(ex:Hb Hekinan、Hb Ube-2) has been reported in Japanese,Thai, Chinese and Taiwan.. If paired with a α0- thalassemias mutation,would aggravate Intermedia anemia;Cases of αand β-thalassemias major were decreasing year after year,due to good performance of public health policy.However, this policy should be extend to Hb gene variants.
| Identifer | oai:union.ndltd.org:TW/096CMCH5108002 |
| Date | January 2008 |
| Creators | Shao-En Chang, 張韶恩 |
| Contributors | 施木青 |
| Source Sets | National Digital Library of Theses and Dissertations in Taiwan |
| Language | zh-TW |
| Detected Language | English |
| Type | 學位論文 ; thesis |
| Format | 99 |
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