title: Diagnosis and prevention of thalassemia.
abstract: Thalassemia is the most common monogenic inherited disease worldwide and it affects most countries to various extents. This review summarizes the current approaches to phenotypic and genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling and prenatal diagnosis are discussed. The importance of public education and an awareness of a changing perception regarding this group of diseases are emphasized. It also addresses the impact of the rapidly increasing knowledge in disease severity modification by hemoglobin F (Hb F).
authors.affiliation: Department of Pathology and Clinical Biochemistry, Queen Mary Hospital , Hong Kong SAR , China and.
authors.forename: Ho-Wan
authors.initials: HW
authors.lastname: Ip
authors.forename: Chi-Chiu
authors.initials: CC
authors.lastname: So
mesh_terms: D000818:Animals; D019317:Evidence-Based Medicine; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D005914:Globins / Q000235:genetics; D006801:Humans; D008297:Male; D005810:Multigene Family; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D040641:Quantitative Trait Loci; D012720:Severity of Illness Index; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000517:prevention & control*
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin