Domenico Coviello

Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen

Cystic fibrosis (CF) represents the most prevalent life-threatening autosomal recessive disorder in Europe, primarily affecting the respiratory tract, exocrine pancreatic function, and lipid metabolism. Immunoreactive trypsinogen (IRT) quantification constitutes the first-tier te...

A Novel α-Globin Gene Variant: Hb Romagna [α61(E10)Lys>Gln; HBA1:c.184A>C] Co-Inherited with Hb A2-Lampang [δ47(CD6)Asp>Asn; HBD:c.142G>A] in an Italian Diabetic Woman

Background: Screening for hemoglobinopathies, particularly in Mediterranean countries, is primarily aimed at preventing beta-thalassemia. However, during such screening, numerous other Hb defects can be diagnosed, each with different clinical significance, including qualitative a...