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Thalassemia is one of the most common monogenic disorders in the world. In order to develop a community-based prevention program, we screened 12,900 individuals for α- and β-thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for α-thalassemia is 15%. β-thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of α-thalassemia [−−SEA 46.7%; −α/4.2, 23.9%; −α/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the β-globin gene account for 99% of the mutations [codon (CD) 41/42 (−TCTT) (39.4%), CD 17(A→T) (32%), CD 71/72 (+A) (7.4%), −28 (A→G) (5.8%), IVS-2-654 (C→T) (5.8%), CD26 (Hb E) (4%), IVS-1 (G→A) (3.7%), and CD 43(G→T) (1.9%)]. Most individuals with α-thalassemia major die in the uterus or shortly after birth. Among 106 patients with β-thalassemia major followed by our clinic, the majority died before 5 years of age. Knowledge surveys about thalassemia were conducted. Our results show a severe lack of knowledge about thalassemia in both medical professionals and in the general populations. This study shows that thalassemia is a very severe public health issue in minority populations in Baise City, China. Identification of the common mutations will allow us to design cost-effective molecular tests. There is an urgent need to educate the general population and the medical community for a successful community-based prevention program. [ABSTRACT FROM AUTHOR]