title: Update in the genetics of thalassemia: What clinicians need to know.
abstract: Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops fetalis and thalassemia major. However, accurate prenatal diagnosis depends on the comprehensive consideration of the molecular basis of thalassemias. To make a correct decision, the obstetrician should have a certain understanding of the genetics of thalassemias. Here we present a brief introduction of some fundamental genetic knowledge of thalassemias, including the production of hemoglobin, structure and location of globin genes, hemoglobin switch, epidemiology, clinical classification, molecular and cellular pathology, genotype-phenotype correlation, and genetic modifiers. Furthermore, some unusual clinical cases that cannot be explained by Mendel's laws are described. On the basis of a thorough understanding of the above information, clinicians should have the ability to precisely diagnose thalassemia patients and provide applicable genetic counselling to the affected families.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China; Guangdong Genetic Testing Engineering Research Center, Guangzhou, Guangdong 510515, China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Shang
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China; Guangdong Genetic Testing Engineering Research Center, Guangzhou, Guangdong 510515, China. Electronic address: xixm@smu.edu.cn.
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Xu
mesh_terms: D005260:Female; D056726:Genetic Association Studies; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's
keywords: genetic modifier; genotype–phenotype correlation; molecular basis; thalassemia