A State Level Retrospective Analysis of Newborn Screening for Hemoglobinopathies

Introduction: Screening for variant hemoglobin is essential in identifying newborns born with hemoglobinopathies, including sickle cell trait (SCT). Screening allows families the opportunity for patient education as well as genetic counseling. This study aimed to better understand the trends in newborn screening of variant hemoglobin in the state of Nebraska over a period of eight years.

Methods: Using the Department of Health and Human Services state-level screening information,the crude incidence rate of SCT was calculated as the screened positives divided by the total number of screened newborns within the state of Nebraska from 2011 to 2018. Rates were further delineated by variant. A Daniel's test was utilized to determine if the crude incidence rates exhibited characteristics of a trend. Rates were also examined with joinpoint regression to determine annual percent change (APC). Excel v 1808 and Joinpoint Trend Analysis v 4.5 software packages were used for all analyses; p < 0.05 was considered significant.

Results: We identified 3,416 newborns with SCT among a total of 211,697 live births, which is an incidence rate of 161.4 cases per 10,000 screened newborns. There was no evidence of a trend in the overall incidence rate from 2011 to 2018 (p = 0.493). However, the incidence of FA Barts significantly increased over the examined interval (p = 0.015) with a 4.4% APC (95% CI: 0.7% to 8.3%; p =0.026)

Conclusion: The data obtained from this study showed no significant change in the incidence of SCT in the state of Nebraska from 2011 to 2018. However, there was a significant increase in the incidence of Hemoglobin FA Barts. Hemoglobin FA Barts is associated primarily with alpha thalassemia, which is most prevalent in southeast Asia, but is also common in the Mediterranean, Africa, Middle east, Central Asia and India. This finding is of interest and likely related to the changing migration patterns in the state of Nebraska. For the healthcare system to continue to provide appropriate care, future studies should aim to further elucidate this trend and patient demographics of this increasing patient population in the state of Nebraska.