Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Martella, Maddalena; Viola, Giampietro; Azzena, Silvia; Schiavon, Sara; Biondi, Andrea; Basso, Giuseppe; Cortí, Paola; Colombatti, Raffaella; Masera, Nicoletta; Sainati, Laura

doi:10.3390/ijns5010002

Cited by 3 publications

(4 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Variant C was found only in NBs with Malian parentage. This observation is similar to that made by some authors [ 6 , 13 , 14 , 20 , 24 , 28 ], but differs from others in West Africa where Hb C predominates in most series 10. Indeed, Hb C is the most common abnormal Hb in West Africa and more particularly in Burkina Faso where it originated [ 29 ].…”

Section: Discussionsupporting

confidence: 92%

“…In addition, MSS prevalences ranging from 0.06% to 3% have been reported in Europe, South America, Central Africa, and other countries. These variations could be justified not only by the fact that MSS is endemic in some regions while in others, it is mainly imported cases but also by the lack of knowledge of sickle cell disease in regions of high prevalence and the existence of consanguineous marriages [ 5 – 7 , 9 , 11 , 12 , 14 , 15 , 21 , 23 , 24 , 28 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Neonatal Screening for Sickle Cell Disease in Congo

Dokékias

Gokaba

Louokdom³

et al. 2022

Anemia

View full text Add to dashboard Cite

Introduction. Sickle cell disease is an autosomal recessive inherited disorder due to the mutation of a gene coding for the globin beta chain. The aim of this study is to update the epidemiological data on hemoglobinoses, in particular sickle cell disease in newborns in Congo. Materials and Methods. This was a descriptive cross-sectional study, conducted from October 1, 2019, to March 31, 2020, throughout the Congolese national territory. It involved all full-term newborns, without distinction of nationality, aged 5 days or less, and whose parents consented to participate in the study. The blood samples, taken at the heel and collected on Whatman blotting paper, were analyzed using the HPLC Variant NBS machine. Results. In 2897 newborns (NN) screened, hemoglobin abnormalities were found in 603 NN (20.81%). The mean age of these newborns was 1 day (extremes 0 and 5 days). The male-to-female ratio was 1.03. Abnormal hemoglobins were mainly Hb S (n = 597 (97.71%)); Hb C (n = 5 (0.82%)); and variants (n = 7 (1.15%)). The national prevalence of major sickle cell (MSC) syndromes and sickle cell trait was 1.35% and 19.43%, respectively. The prevalence ranged from 1.77% to 2.56% for MSS in four departments and from 20.5% to 25.8% for the sickle cell trait in six other departments. Conclusion. Data on homozygous sickle cell disease remain consistent with previous studies. However, further studies should clarify the molecular anomalies of the variants observed in our samples.

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Sickle Cell Disease in Congo

Dokékias

Gokaba

Louokdom³

et al. 2022

Anemia

View full text Add to dashboard Cite

show abstract

“…. Global and regional birth prevalence a of SCD in Africa [23,[50][51][52][53][54][55][56][57][58][59], Europe [60][61][62][63][64][65][66][67][68][69][70], India [71], the Middle East [39,[72][73][74][75], North America [76][77][78][79], and South America/the Caribbean [80][81][82][83][84][85][86][87][88][89][90][91]. a Within each region, the birth prevalence was estimated using a binomial normal model, which assumed a binomial distribution for the individual studies with a mean value drawn from a normal distribution for a regional/global value.…”

Section: Quantitative Meta-analysis Of Prevalence and Birth Prevalencementioning

confidence: 99%

“…a Within each region, the birth prevalence was estimated using a binomial normal model, which assumed a binomial distribution for the individual studies with a Figure5. Global and regional birth prevalence a of sickle cell trait in Africa[23,[50][51][52][53][54][57][58][59], Europe[61,63,[65][66][67][68][69][70]92], India[71], the Middle East[72][73][74][75], North America[76,79,93,94], and South America/the Caribbean[80][81][82][83][85][86][87][88][89][90][91]. a Within each region, the birth prevalence was estimated using a binomial normal model, which assumed a binomial distribution for the individual studies with a mean value drawn from a normal distribution for a regional/global value.…”

mentioning

confidence: 99%

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

Colombatti,

Hegemann,

Medici

et al. 2023

JCM

Self Cite

View full text Add to dashboard Cite

Sickle cell disease (SCD) is an inherited monogenic disorder with high prevalence throughout sub-Saharan Africa, the Mediterranean basin, the Middle East, and India. Sources of SCD epidemiology remain scarce and fragmented. A systematic literature review (SLR) to identify peer-reviewed studies on SCD epidemiology was performed, with a search of bibliographic databases and key conference proceedings from 1 January 2010 to 25 March 2022 (congress abstracts after 2018). The SLR followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Meta-analyses, using a binomial normal random-effects model, were performed to estimate global and regional prevalence and birth prevalence. Of 1770 journal articles and 468 abstracts screened, 115 publications met the inclusion criteria. Prevalence was highest in Africa (~800/100,000), followed by the Middle East (~200/100,000) and India (~100/100,000), in contrast to ~30/100,000 in Europe. Birth prevalence was highest in Africa (~1000/100,000) and lowest in North America (~50/100,000) and Europe (~30/100,000). This SLR confirmed that sub-Saharan and North-East Africa, India, the Middle East, and the Caribbean islands are global SCD hotspots. Publications including mortality data were sparse, and no conclusions could be drawn about mortality. The identified data were limited due to gaps in the published literature for large parts of the world population; the inconsistent reporting of SCD genotypes, diagnostic criteria, and settings; and a sparsity of peer-reviewed publications from countries with assumed high prevalence. This SLR demonstrated a lack of systematic knowledge and a need to provide uniform data collection on SCD prevalence and mortality.

show abstract

Real-World Evidence on Disease Burden and Economic Impact of Sickle Cell Disease in Italy

Franceschi

Castiglioni

Condorelli

et al. 2022

JCM

View full text Add to dashboard Cite

A real-world analysis was conducted in Italy among sickle cell disease (SCD) patients to evaluate the epidemiology of SCD, describe patients’ characteristics and the therapeutic and economic burden. A retrospective analysis of administrative databases of various Italian entities was carried out. All patients with ≥1 hospitalization with SCD diagnosis were included from 01/2010-12/2017 (up to 12/2018 for epidemiologic analysis). The index date corresponded to the first SCD diagnosis. In 2018, SCD incidence rate was 0.93/100,000, the prevalence was estimated at 13.1/100,000. Overall, 1816 patients were included. During the 1st year of follow-up, 50.7% of patients had one all-cause hospitalization, 27.8% had 2, 10.4% had 3, and 11.1% had ≥4. Over follow-up, 6.1–7.2% of patients were treated with SCD-specific, 58.4–69.4% with SCD-related, 60.7–71.3% with SCD-complications-related drugs. Mean annual number per patient of overall treatments was 14.9 ± 13.9, hospitalizations 1.1 ± 1.1, and out-patient services 5.3 ± 7.6. The total mean direct cost per patient was EUR 7918/year (EUR 2201 drugs, EUR 3320 hospitalizations, and EUR 2397 out-patient services). The results from this real-world analysis showed a high disease burden for SCD patients with multiple hospitalizations during the follow-up. High healthcare resource utilization and costs were associated with patient’ management and were most likely underestimated since indirect costs and Emergency Room admissions were not included.

show abstract

Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Cited by 3 publications

References 17 publications

Neonatal Screening for Sickle Cell Disease in Congo

Neonatal Screening for Sickle Cell Disease in Congo

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

Real-World Evidence on Disease Burden and Economic Impact of Sickle Cell Disease in Italy

Contact Info

Product

Resources

About