Molecular Analysis of the 83 - Thalassemia Phenotype Associated with Inheritance of Hemoglobin E ( a 2 f 3226 Glu - > Lys )

Preliminary findings from these studies were presented at the 37th Annual Meeting of the American Federation for Clinical Research, 10-12 May 1980, in Washington, D. C. (Clin. Res. 28: 305A). Address all correspondence to Dr. Benz, Hematology Section, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. 06510. Received for publication 15 August 1980 and in revised form 20 February 1981. 118 comparable reductions in the levels of,8-globin mRNA. In Hb E-,p-thalassemia the 8A + pE/a globin mRNA ratios observed were substantially lower than those obtained from reticulocytes of patients with heterozygous p-thalassemia, or Hb S-lo-thalassemia, while in Hb E trait, the 8A + pE/a mRNA ratio was in the range observed for p-thalassemia trait. The pE-globin gene specifies reduced accumulation of ,E_globin mRNA, a property characteristic of other forms of,p-thalassemia. The p-thalassemia phenotype associated with inheritance of Hb E is thus determined at the level of 8globin mRNA metabolism.