Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action

Abstract

Background Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single‐center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies. Population and methods NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High‐performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta‐globin gene was performed on positive samples. Results A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub‐Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa–India–South America); carriers of other hemoglobin variants were mainly (47%) from other areas. Conclusions Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

“…The prevalence of SCD in developed countries is increasing partly due to migration from high prevalent countries [17][18][19][20]. It is estimated that over 14,000 people live with SCD in the UK, similar to France, while countries like Italy, Germany have seen increasing numbers from Africa [21][22][23][24]. With increasing survival, the age distribution of SCD is changing from a childhood disorder pattern that patients now survive into adulthood and old age.…”

Screening for sickle cell disease in newborns: a systematic review

“…Established diagnostic test procedures for SCD are currently available: The results of test-positive newborns screened using tandem mass spectrometry or HPLC, for example, showed that they were actually affected by SCD, since no false-positive results were reported in selected studies (e.g. [ 29 , 30 ]). Since the factors influencing test accuracy may vary, essential factors for the widespread use of such screening programmes are the training of laboratory personnel, laboratory standards, and the minimum amount of blood per sample to be analysed.…”

Evolutionary history of sickle-cell mutation: implications for global genetic medicine

“…Malaria selective environment in these regions further augmented the gene frequencies. Recent migrations have also contributed to the prevalence of the gene in regions with low or no malaria prevalence, for instance in southern Africa ( 16 ), North America ( 3 ) and Europe ( 17 ).…”