Blood, 1955, Vol. 10, No. 5, pp. 389-404.
© 1955 American Society of Hematology, Inc.
Clinical Manifestations of Inherited Abnormal Hemoglobins
PHILLIP STURGEON 1,
HARVEY A. ITANO 1, and
WILLIAM R. BERGREN 1
1 Department of Research of Children’s Hospital, Los Angeles, the Departments
of Pediatrics and of Biochemistry of the School of Medicine of the University of Southern
California, and the Gates and Crellin Laboratories of Chemistry, (Contribution No. 1903),
of the California Institute of Technology.
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.
Submitted on July 19, 1954
Accepted on October 12, 1954
