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Published December 1, 1951 | public
Journal Article Open

A Third Abnormal Hemoglobin Associated with Hereditary Hemolytic Anemia

Abstract

Previous work from these Laboratories has established the existence of an abnormal hemoglobin in sickle cell trait and sickle cell anemia and has provided the basis for a theory relating the presence of the abnormal hemoglobin to the clinical pictures in sickle cell trait and sickle cell anemia [1]. It was shown in this work that the electrophoretic picture in these conditions is compatible with the usual genetic picture that both parents of an individual suffering from sickle cell anemia have the sickle cell trait [2]. There are in the literature, however, a number of reports in which one of the parents of a sickle cell anemia victim possesses non-sickling erythrocytes. In some cases of this type the parent whose cells do not sickle has been shown to have thalassemia minor (Cooley's trait), and hematologic studies on the erythrocytes of the anemic individual have revealed the presence of properties which are present in the erythrocytes both of sickle cell disease and of thalassemia [3,4]. In other cases the hemoglobin of the parent having the non-sickling cells has a greater electrophoretic mobility on the acid side of the isoelectric point than either normal hemoglobin or sickle cell hemoglobin, and the hemoglobin of the anemic child contains both this new hemoglobin and sickle cell hemoglobin [5]. The present report deals with the identification of still another form of human hemoglobin in five members of a family in which the genetic picture is not typical of sickle cell anemia, although two of the members have in the past been diagnosed as having sickle cell anemia. An earlier study of this family disclosed that the two anemic children and the father, who was not anemic, had sickling erythrocytes while the mother, two sisters and two brothers of the anemic children had non-sickling erythrocytes and were not anemic [6]. The father, one brother and one sister were not available for the present study.

Additional Information

Copyright © 1951 by the National Academy of Sciences Communicated by Linus Pauling, October 26, 1951 The blood specimens used in this study were obtained through the generous cooperation of Dr. Phillip Sturgeon of the Children's Hospital of Los Angeles. The author thanks Professor Linus Pauling and Dr. S. J. Singer of these Laboratories, and Professor Ray D. Owen of the Division of Biology for their helpful suggestions concerning the manuscript. This investigation was supported by a grant from the U.S. Public Health Service. Assigned to the California Institute of Technology by the National Cancer Institute of the National Institutes of Health, Public Health Service, Federal Security Agency. Gates and Crellin nLaboratories of Chemistry, Contribution No. 1609.

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August 21, 2023
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