Role of the University of Rochester Medical Center in the Care of Newborns Identified with Hemoglobinopathies by the NY State Newborn Screening Program

Newborn Counseling

Dr. Norma B. Lerner, pediatric hematologist, at Strong Memorial Hospital, receives notification from NY State Newborn Screening in Albany of all babies born in a 9 county region* who test positive for an abnormal hemoglobin. Bridget Platania R.N. C.P.N.P., the nurse coordinator of the Sickle Cell Clinic, contacts the pediatrician of newborns who have a symptomatic hemoglobinopathy to explain the need for repeat testing and our role in counseling the family. After the result of the repeat sample is received, Ms. Platania makes a home visit to the family. During the home visit she explains the hereditary basis of the baby’s disease, the risks of a hemoglobinopathy in future children, the signs and symptoms of the disease, the need to contact the physician at the first sign of fever or anemia, and the importance of prophylactic penicillin. Hemoglobinopathy testing of the parents is recommended, if not already done, to make an accurate diagnosis for the baby and to determine the risk of disease for their future children. Educational materials about the baby’s diagnosis are given to the family. Ms. Platania also informs mothers of newborns with trait of their baby’s trait status. A letter is sent to each of these mothers stating her newborn’s hemoglobin test result along with an appropriate hemoglobin brochure and a brochure on newborn screening.

Dr. Norma B. Lerner, is the director of pediatric sickle cell disease clinical services. Outpatient services are offered for the comprehensive care of patients with sickle cell disease and related hemoglobinopathies. The intent is to share regularly scheduled visits with the general pediatrician so that the patient may benefit from the expertise of both the primary provider and the physician (and nurse) specialist. Physical examination and age appropriate tests are performed at each appointment and counseling regarding preventive care is provided. A social worker and educational liaison are always available. Specialty evaluations in the fields of cardiology, pulmonary disease, ophthalmology, orthopedics, etc. are arranged as needed with the Strong Memorial Hospital staff. Inpatient and outpatient acute care services are provided to children with sickle cell disease at Strong Memorial Hospital where a pediatric hematologist is always available for consultation. Those children who require regular transfusion therapy, most usually those who have experienced cerebrovascular accidents, receive blood in the treatment center of the ambulatory unit.

* Chemung, Livingston, Monroe, Ontario, Schuyler, Seneca, Stueben, Wayne, Yates. Sickle Cell Clinic