Association of Hb e with β° Thalassemia

Abstract

Hemoglobin Hope β 136 (H 14) Fly→Ala is a mildly unstable hemoglobin variant initially described in 1965 by Minnich et al. in an American Negro family (1). In the following years other cases have been reported among African and American Blacks (2,3). The oxygen affinity, the cooperativity and the 2,3 diphosphoglycerate (2,3 DPG) interaction of this mutant were demonstrated to be decreased but the Bohr effect is normal (3). Associations of this abnormal hemoglobin with hemoglobin S (2) and with β_± thalassemia (S. Charache, personal communication) have been described. In this paper we report a case of hemoglobin Hope associated with β° thalassemia. The patient studied here provides the first example in which the major hemoglobin component within the RBC is hemoglobin Hope.