The Interaction ofllemoglobin E With ; 9 Thalassemia : A

A 5-yr-old girl with hemoglobin E-$ thalassemia was discovered in a family of mixed origin. The father is Iranian (6-thalassemia trait) and the mother is Burmese (hemoglobin-E trait). Hemoglobin synthesis was studied in vitro in the blood of the proposita and family members. In the subjects with hemoglobin E trait the ratio of the quantity of hemoglobin A to hemoglobin E was 3:1. However. the A/I tE synthesis ratio in reticulocytes was in the range of 1 .5-2.1 8, and the specific activity oft’ was 31%-49% greater than . suggesting instability of hemoglobin E with preferential destruction of abnormal hemoglobin. The blood of the proposita exhibited only hemoglobin F and hemoglobin E and reticulocytes and bone marrow showed no A synthesis. This Iranian fi -thalassemia gene is therefore of the fl#{176} type. The fi synthesis ratio (approximately 0.74) in blood of the proposita was similar to the flA/ ratio in mildly affected relatives with thalassemia trait. These results suggest that the seventy of the hemoglobin Ethalassemia syndrome is attributable to both instability and defective synthesis of hemoglobin E in association with absent 9 A synthesis due to a fl#{176} thalassemia gene.