ABSTRACT
<p><b>OBJECTIVE</b>To detect rare types of thalassemia mutations among southern Chinese population.</p><p><b>METHODS</b>Peripheral blood samples from 327 patients from various regions of southern China were collected. The patients were suspected as rare-type thalassemia for their inconsistency between hematological phenotypes and results of routine mutation screening. The samples were further analyzed with GAP-PCR and DNA sequencing.</p><p><b>RESULTS</b>One hundred and eight cases were diagnosed as rare types of thalassemia. Among whom 10 rare α-globin gene mutations including --THAI, HKα, αααanti3.7, αααanti4.2, -α2.8, -α27.6, CD74 GAC>CAC (Hb Q-Thailand), CD30 (-GAG), CD31 AGG>AAG and CD118 (+TCA), and 12 rare β-globin gene mutations including CD37 TGG>TAG, CD39 CAG>TAG/CD39 CAG>TAG, β II-2 (-T), -90(C>T), -31(A>C), -88(C>T), CD7(-A), CD138(+T), CD89-93 (--AGTGAGCTGCACTG), CD54-58 (-TATGGGCAACCCT), Chinese G γ +(A γδβ)0 and Vietnamese HPFH (HPFH-6) were identified. -88(C>T) (HBB: c.-138C>T) and CD39 CAG>TAG (HBB: c.118C>T) were discovered for the first time in Chinese population. CD7(-A) (HBB: c.23delA) and CD138(+T) (HBB: c.416_417insT) were new types of β-globin gene mutations.</p><p><b>CONCLUSION</b>The present study have enriched the mutation spectrum of thalassemia in southern China, which has provided necessary information for its diagnosis.</p>