Abstract：Objective To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.Methods A total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--SEA, -α3.7, and -α4.2) and three non-deletion mutations (Hb Westmead, Hb Constant Spring, and Hb Quong Sze) which are common in the Chinese population.Results Among the 595 cases, five common genotypes were identified, which were --SEA/-α3.7 (232 cases), --SEA/αCSα (174 cases), --SEA/-α4.2 (122 cases), --SEA/αWSα (35 cases), and --SEA/αQSα (24 cases). The genotype of THAI deletion associated with α-thalassemia-2 was detected in eight cases. Six β-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identified in 23 cases. All children with HbH disease had microcytic hypochromic anemia; children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia.Conclusions Deletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild betathalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.
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