THE OCCURRENCE IN A FAMILY OF SICILIAN ANCESTRY OF THE TRAITS FOR BOTH SICKLING AND THALASSEMIA

Author:

POWELL W. N.,RODARTE J. G.,NEEL J. V.

Abstract

Abstract 1. A 38 year old male of Sicilian ancestry with a chronic, hemolytic anemia clinically indistinguishable from sickle cell disease is described. Family studies extending over three generations and including all persons indicate that this individual has received from his father a gene for the sickling phenomenon, and from his mother a gene for thalassemia. 2. Three alternative hypotheses are advanced to account for the severity of the anemia present in the patient. The bases whereby a decision can be reached as to which of the three hypotheses is correct are discussed. It is indicated that no decision is possible until the results of studying a number of families comparable to the present are available. 3. It is suggested that many of the reported cases of sickle cell disease in Caucasians actually involve a genetic situation comparable to the one reported in the present paper.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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