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July 1963

Studies of Sickle Cell Disease: Diagnosis in Infancy

Author Affiliations

Stanley F. Porter, MD, Associate Professor, Department of Pediatrics, University of Arkansas Medical Center, Little Rock, Ark.; Associate Professor of Pediatrics, University of Arkansas Medical Center, (Dr. Porter); Attending Pediatrician, Memorial Hospital for Cancer and Allied Diseases, New York, and John and Mary Markle Scholar in Medical Sciences (Dr. Thurman).; From the Departments of Pediatrics, University of Arkansas Medical Center, and Tulane University School of Medicine, New Orleans.

Am J Dis Child. 1963;106(1):35-42. doi:10.1001/archpedi.1963.02080050037008

Sickle cell disease is diagnosed most frequently in the pediatric age group, since clinical symptomatology usually occurs prior to the age of six. However, the diagnosis is seldom made under one year of age. This, of course, is not due to decreased incidence because as genetically determined disorders, both the homozygous state (sickle cell disease or disease) and the heterozygous state (sickle cell trait or trait) exist from birth. Mulherin 1 has shown that cord blood specimens from the newborn that later develops typical electrophoretic patterns of either the heterozygous or homozygous state, will give a positive sickle preparation, utilizing the sodium metabisulfite method. The percentage of red cells demonstrating the sickle phenomenon at birth ranges from 1%-42%. With this in mind, it is not surprising that symptoms may occur at a very early age. Leiken and McCoo2 found four cases in the literature and added two of their

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