Variable clinical phenotypes of alpha-thalassemia syndromes.
Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of alpha-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other alpha-thalassemia variants) call for more attention for improved screening methods and better care.
Singer
Sylvia Titi
ST
Hematology/Oncology Department, Children's Hospital and Research Center (CHRCO), Oakland, CA, USA. tsinger@mail.cho.org
D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010641:Phenotype; D013577:Syndrome; D017085:alpha-Thalassemia / Q000145:classification / Q000175:diagnosis* / Q000235:genetics