Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies 张咸宁 zhangxianning@zju.edu.cn Tel:13105819271;88208367 Office: A705, Research Building 2013/03
Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2013/03
Required Reading Thompson &Thompson Genetics in Medicine,7Ed(双语版,2009) ● Pages237-257 O Clinical Case Studies: 37. Sickle Cell Disease 39. Thalassemia
Required Reading Thompson &Thompson Genetics in Medicine, 7th Ed （双语版，2009） ● Pages 237-257; ● Clinical Case Studies: 37. Sickle Cell Disease 39. Thalassemia
Part i genetics of the Hemoglobinopathies
Part I. Genetics of the Hemoglobinopathies
Learning obiectives 1. To review the normal structure-function relationships of hemoglobin and expression of globin genes 2. To examine the hemoglobinopathies as disorders of hemoglobin structure. or a or B-globin gene expression 3. To explore the influences of compound heterozygosity and modifier genes on hemoglobinopathy phenotypes
Learning Objectives 1. To review the normal structure-function relationships of hemoglobin and expression of globin genes 2. To examine the hemoglobinopathies as disorders of hemoglobin structure, or α- or β-globin gene expression 3. To explore the influences of compound heterozygosity and modifier genes on hemoglobinopathy phenotypes
Molecular disease a disease in which there is an abnormality in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia
Molecular Disease A disease in which there is an abnormality in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia