| Abstract: | β-Thalassemia (β-thal) is a hereditary anemia caused by mutations in the β-globin gene encoding the β-globin chain of hemoglobin A. In its homozygous form, the disease is characterized by a hemolytic hypochromic anemia, hepatosplenomegaly, skeletal deformation, mongoloid facies, and cardiac enlargement. The heterozygous form is usually asymptomatic but is sometimes associated with moderate anemia and splenomegaly. More than 100 β-thal mutations have been detected in the β-globin gene (Kazazian, 1990). Here we report two new β-thal mutations and observation of another rare allele, which was found previously in a single individual. © 1995 Wiley-Liss, Inc. |
