부산대학교 도서관

Hemoglobin (Hb) gene disorders are common inherited diseases in Taiwan. The αα- and ββ-thalassemias are among the well-known Hb diseases in this area. We reviewed abnormal hematological data in 3578 cases, identified between 1998 and 2009, as being at-risk for αα-thalassemia (αα-thal) (n == 1909; 53.3%%), ββ-thal (n == 743; 20.8%%), non-αα, ββ-thal (n == 872; 24.4%%), and αα-thal combined with ββ-thal (n == 54; 1.5%%), and collected fetal blood samples for prenatal testing. The most common types of αα0- and αα++-thal were the SEA (Southeast Asian) deletion and the −−αα3.7 rightward deletion, with frequencies of 87.79 and 4.85%%, respectively. The frequency of the IVS-II-654 (C>T) mutation, the most common ββ-thal mutation in this region, was 38.6%%. Hb E [ββ26(B8)Glu→→Lys, GAG> AAG] was found to be the most common Hb variant, and it was concluded that Hb Tak [ββ147 (++AC)], Hb G -Taichung (also known as Hb Q-Thailand) [αα74(EF3)Asp→→His, GAC> CAC (αα1)], Hb Owari [αα121(H4)Val→→Met ( GTG> ATG)], and Hb Phnom Penh [αα117(GH5)Phe-Ile-αα118(H1)Thr (αα1)] were very rare. The results of this study provide a primary reference for designing a locally relevant antenatal diagnostic test for controlling the spread of thalassemia. [ABSTRACT FROM AUTHOR]