Correlation between hematological features and genetic lesions of hemoglobin gene disorders in Taiwanese patients

• Main Authors: Hui-Ju Lin, 林惠茹
• Other Authors: Tschen,J.S.-M
• Format: Others
• Language: zh-TW
• Published: 2006
• Online Access: http://ndltd.ncl.edu.tw/handle/35818706948467023458

碩士 === 國立中興大學 === 生命科學院碩士在職專班 === 94 === 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.