The codon 37 (TGG → TAG) β0-thalassemia mutat on found in a Chinese family

beta-Thalassemia (thal) is a common hereditary anemia caused by mutations that reduce or abolish expression of one or both of the P-globin genes. Over 200 different beta-thal mutations have been characterized worldwide, including 30 types that have been found in Chinese subjects (1,2). Recently, a beta-thal nonsense mutation, a G -> A substitution at the second position of codon 37 of the P-globin gene, was identified in an Afghanistani family (3). We here record an example of this mutation in a Chinese family. The family was from Dongguan City, Guangdong Province in Southern China. Both parents had classical beta-thal trait (Table 1). Their first daughter was diagnosed with severe homozygous beta-thal at 5 months of age. She had been regularly transfused, but died at 4 years of age. At 15 weeks gestation in the next pregnancy, the couple was referred to our Center for prenatal diagnosis.