Genetics of the hemoglobinopathies Newborn Screening for the Hemoglobinopathies 张成宁 zhangxianning@zju.edu.cn Tel:13105819271:88208367 Office: C303, Teaching Building 2016/03
Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: C303, Teaching Building 2016/03
Required Reading Nussbaum RL, et al. thompson Thompson Genetics in Medicine, 8th ed Elsevier, 2016, pp195-214 O Clinical case Studies-42. Sickle Cell Disease, 44. thalassemia
Required Reading Nussbaum RL, et al. Thompson & Thompson Genetics in Medicine, 8th ed. Elsevier，2016，pp195-214； ● Clinical Case Studies-42. Sickle Cell Disease，44. Thalassemia
Part i。 Genetics of the Hemoglobinopathies血红蛋白病
Part I. Genetics of the Hemoglobinopathies血红蛋白病
Learning Objectives 1. To review the normal structure-function relationships of Hb and expression of globin g enes 2. To examine the hemoglobinopathies as disorders of Hb 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 Hb and expression of globin genes 2. To examine the hemoglobinopathies as disorders of Hb structure, or α- or β-globin gene expression 3. To explore the influences of compound heterozygosity and modifier genes on hemoglobinopathy phenotypes
Compound heterozygote(复合杂合子) An individual, or a genotype, with two different mutant alleles at the same locus · Compound heterozygote≠ homozygote≠ Double heterozygote
• Compound heterozygote（复合杂合子）： An individual, or a genotype, with two different mutant alleles at the same locus • Compound heterozygote ≠ homozygote ≠ Double heterozygote