Importance of neonatal screening: A case study of sickle cell disease and cystic fibrosis coexistence

Abstract

BACKGROUND

Neonatal screening (NS) is a public health policy to identify genetic pathologies such as cystic fibrosis (CF), sickle cell disease, and other diseases. Sickle cell disease is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S. CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane regulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium. NS is crucial for early diagnosis and management, which ensures a better quality of life.

AIM

To report a case of the coexistence of sickle cell anemia (SCA) and CF and perform an integrative literature review.

METHODS

This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case. The authors identified only 5 cases of SCA associated with CF. No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.

RESULTS

Herein, the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin. The diagnosis of CF was confirmed by the Coulometry Sweat Test. The rarity of the co-occurrence of these two severe genetic pathologies (CF and SCA) is a challenge for medical science.

CONCLUSION

This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

Keywords: Sickle cell disease; Sickle cell anemia; Children; Cystic fibrosis; Neonatal Screening; Case reports

Core Tip: The key finding of this study was that the early identification and diagnosis of two severe genetic diseases determined by neonatal screening can improve life expectancy and quality of life. The co-occurrence of sickle cell anemia and cystic fibrosis is rare. To the best of our knowledge, only 5 cases are currently reported in the literature. This manuscript contributes to the scientific community by adding another case of the co-occurrence of serious genetic diseases to the body of knowledge. When recognizing the existence of both pathologies in an association, there is a broader view of patients with these disorders, improving their quality of life and reducing morbidity and mortality.