Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies

TLDR: Early diagnosis of hemoglobinopathies should be in the newborn period as mentioned in this paper, even though screening has not received widespread acceptance for the past 15 to 20 years, even though the technology to screen infants in the new period has been available for more than 20 years.

Abstract: Hemoglobinopathies represent one of the major health problems in the United States and constitute the most common genetic disorders in some populations Sickle cell disease (SS, SC, S-β-thalassemia) alone affects about one in 400 American black newborns, as well as persons of African, Mediterranean, Asian, Caribbean, Middle Eastern, and South and Central American origins For the past 20 years, the medical profession has known that children with sickle cell anemia have an increased susceptibility to severe bacterial infection, particularly due to Streptococcus pneumoniae The risk of major infection and death posed by this organism is greatest in the first 3 years of life and can occur as early as 3 months of age In fact, this infection may be the first clinical manifestation of disease The infection can be fulminant, progressing from the onset of fever to death in a matter of hours, and the case fatality rate is reported as high as 30% In addition, acute splenic sequestration, another acute catastrophic event, contributes to early mortality in children with sickle cell anemia and may occur as early as 5 months of age It has been proposed that early diagnosis to identify infants with major sickle hemoglobinopathies, who have a high risk of early mortality and morbidity, is essential to institute appropriate ongoing care and effective measures of prophylaxis and intervention Early diagnosis of hemoglobinopathies should be in the newborn period Even though the technology to screen infants in the newborn period has been available for the past 15 to 20 years, screening has not received widespread acceptance