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reference materials

Sickle cell disease: Information for physicians and other health care professionals

key information

source: Illinois Department of Public Health

summary/abstract:

Sickle cell disease is a term for hemoglobin disorders characterized by the predominant production of hemoglobin S. Any sign of illness in an infant with sickling disease is a potential medical emergency. Acute and chronic tissue injury can occur when sickled cells cause vascular occlusion.

Newborn Screening and Definitive Diagnosis: Newborn screening for sickle cell disease is performed by high performance liquid chromatography (HPLC) testing to determine the presence of abnormal hemoglobins (Hgb) in whole blood. All abnormal newborn screening test results indicating a sickle cell disorder require appropriate confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis. Referral to a pediatric hematologist for evaluation and diagnostic testing is recommended within the first month of life and should not be delayed until the infant is older. Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods for defining an infant’s hemoglobin phenotype.

 

 

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