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April 1983

Newborn Sickle Cell Screening: Benefits and Burdens Realized

Author Affiliations

From the Departments of Medicine (Dr Rowley and Ms Huntzinger), Pediatrics (Dr Rowley), and Microbiology (Dr Rowley) and the Division of Genetics (Dr Rowley and Ms Huntzinger), University of Rochester (NY) School of Medicine.

Am J Dis Child. 1983;137(4):341-345. doi:10.1001/archpedi.1983.02140300023007

• Seventeen newborns identified by state-mandated screening as having sickle cell disease or homozygous hemoglobin C disease were followed up through interviews of their physicians and their parents to assess benefits and burdens received by the families. Many parents had provided proper care for their children (12/17) and pneumococcal prophylaxis had been given (6/14). However, some parents did not understand the recurrence risk (3/11) and for others genetic counseling may have threatened the parental relationship by focusing attention on the identity of the father (3/11). Deriving the maximum benefit from new-born sickle cell screening will require a better understanding on the part of physicians of the differential diagnosis, treatment, and inheritance of sickle cell disease and guidance regarding comprehensive counseling of families. In the meantime, states mandating such screening need to provide individual case follow-up.

(Am J Dis Child 1983;137:341-345)