Clinical Manifestations of Inherited Abnormal Hemoglobins

Abstract

Abstract A clinical and hematologic description is presented of the family demonstrating the existence of the genetically determined hemoglobin-D originally described by Itano. The interaction of hemoglobin-D with hemoglobin-S in two members of this family has resulted in a hemolytic process and a mild anemia. Clinically, one of the patients is asymptomatic. The other has repeated painful episodes characteristic of those seen in sickle cell crises. Clinical and hematologic evaluations of two members of the family inheriting normal hemoglobin and hemoglobin-D revealed no abnormalities. The only feature of hemoglobin-D which distinguishes it from normal hemoglobin is its electrophoretic mobility which is similar to that of hemoglobin-S. Hemoglobin-D is distinguished from hemoglobin-S by a higher solubility and by a failure to sickle and from hemoglobin-C by a lack of target cell formation and a different electrophoretic mobility. Clinical, hematologic and special hemoglobin studies are presented of a family exhibiting a new abnormal hemoglobin (hemoglobin-E). Its interaction with thalassemia trait in one of its members also is described. Hemoglobin-E does not sickle; under alkaline conditions it migrates slowly at a rate comparable to hemoglobin-C, while at an acid pH it migrates at a rate similar to hemoglobin-S. The result of its interaction with thalassemia is a microcytic, hypochromic anemia clinically resembling thalassemia major of an intermediate degree of severity. The major defect appears to be in hemoglobin synthesis, although the slight persistent reticulocytosis suggests a mild hemolytic process.