Capacity building and networking to make newborn screening for sickle cell disease a reality in Haiti

Fleur, Rony Saint; Archer, Natasha M.; Hustace, Tally; Louis, R; Bellevue, Rita; Gautier, Jacqueline; Lerebours, Emmeline; Voltaire, Mimose; Álvarez, Ofelia

doi:10.1182/bloodadvances.2018gs111997

Cited by 5 publications

(5 citation statements)

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“…Despite a reported incidence of SCD of 0.58% (twice the U.S.) demonstrating a need for NBS, no national NBS program was continued [ 1222 ]. A 2018 report on capacity building for NBS in Haití noted that NBS for SCD is considered the standard of care in some hospitals and research at others [ 1223 ]. This report also noted that equipment for screening was a major need that was being addressed as funds become available, usually from external donations.…”

Section: Resultsmentioning

confidence: 99%

“…A POC validation study was also conducted in collaboration with the Florida, USA NBS program [ 1224 ]. Because of the impact of local advocacy groups in other countries, the Haití Sickle Cell Interest Group has been established [ 1223 ]. A recent report reviews the progress of the pilot study in demonstrating the feasibility of NBS while noting the difficulties with follow-up (which are much less with POC testing).…”

Section: Resultsmentioning

confidence: 99%

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Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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“…En la población de pacientes pediátricos de Haití, diversos estudios han establecido la presencia de la ACF. Estudios en inmigrantes de Haití a Estados Unidos identificaron la presencia de hemoglobina S y hemoglobina C en pacientes pediátricos en 8,0% y 4,7%, respectivamente 54 . Otro estudio estableció la prevalencia de estas mutaciones en un 0,58% para la mutación en portadores homocigotos y aproximadamente un 13% para los portadores heterocigotos.…”

Section: Discussionunclassified

“…Otro estudio estableció la prevalencia de estas mutaciones en un 0,58% para la mutación en portadores homocigotos y aproximadamente un 13% para los portadores heterocigotos. La evidencia apuntaría a establecer que la prevalencia de la ACF en la población haitiana sería el doble que la de los grupos étnicos del África subsahariana 54 . En la actualidad, según información censal y del Servicio Jesuita a Migrantes, existen aproximadamente 200.000 personas de origen haitiano en Chile 55 .…”

Section: Discussionunclassified

Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease

Cayupe,

Barra

2024

Andes pediatr

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La anemia falciforme (AF) es la enfermedad genética más frecuente del mundo. Hay países con programas de salud pública masivos para la detección temprana esta condición. Varios haplotipos específicos y polimorfismos de una sola base (SNPs) se han asociado en la literatura con la prognosis de AF.Objetivo: Demostrar la correlación significativa de SNPS relevantes para el diagnóstico y prognosis de AF entre diferentes grupos étnicos.Metodología: se analizaron las frecuencias poblacionales y correlaciones entre varios SNPs relevantes para la prognosis de AF (ej: niveles basales de hemoglobina fetal), respuesta a tratamiento con hydroxiurea y respuesta a otras drogas utilizadas en el tratamiento de AF. Los datos fueron obtenidos de bases de datos genómicos validadas entre diferentes grupos étnicos.Resultados: Los cálculos del equilibrio de Hardy-Weinberg y la regresión logística fue exitosa en clasificar los grupos étnicos, Africano (0 = 0,78, 1 = 0,89), y con menor eficiencia; Americano (AMR) (0 = 0,88, 1 = 0,00), Asia del Este (EAS) (0 = 0,80, 1 = 0,00), Europeo (EUR) (0 = 0,79, 1 = 0,00), y Sud-Asiático (SAS) (0 = 0,80, 1 = 0,00).Conclusiones: Estos resultados, extienden los trabajos previos y muestran que el perfil de mutaciones de la mayoría de los SNPs analizados, presenta distribuciones estadísticamente significativas entre grupos étnicos generales, apuntando a la necesidad de realizar programas de testeo masivo de SNPs para AF en pacientes diagnosticados con esta patología. Se concluye que la aplicación de un programa amplio de genotipificación de mutación generara una respuesta más eficiente y personalizada en el tratamiento de AF.

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“…• Haiti: there is not any NBS activity known at all to screen the most common conditions such as congenital hypothyroidism (CH) or phenylketonuria (PKU), but some attempts to implement NBS on request for hemoglobinopathies were recently reported (Alvarez et al, 2019;Saint Fleur et al, 2018 (Borrajo, 2007;Therrell et al, 2015), clearly reveals the growth and evolution experienced on this subject, behavior that, in general for all the countries, was accompanied by a continuous decreasing in the IMR.…”

Section: Modality Of Organization Year Of Implementation and Coverage (2018)mentioning

confidence: 99%

Newborn screening in Latin America: A brief overview of the state of the art

Borrajo

2021

American J of Med Genetics Pt C

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Latin America is a region consisting of 20 countries that present a wide diversity in terms of a geographic area as well as demographics, ethnicity, economy, social, and healthcare systems. This diversity also applies to the newborn screening (NBS) activities, as demonstrated by the start dates and modalities of implementation as organized programs, the panel of diseases screened for, the available technologies for testing, the coverage, the legislation in force, and the degree of development and success reached. Based on these characteristics, Latin American countries can currently be classified into five groups ranging from fully established national programs to no program at all. Sixteen countries have national or regional NBS programs, but up to date only 14 are actively working. The other 2 have organized programs conducted by different health services providers, but without any unified national coordination. Only six countries have coverage ≥ 90% and 12 ≥ 70%. Thirteen countries have legislation in force defining NBS as mandatory. The 16 countries that have active NBS programs screen for congenital hypothyroidism, 14 for phenylketonuria, 12 for congenital adrenal hyperplasia and cystic fibrosis, and 8 for galactosemia. NBS by tandem mass spectrometry is implemented at a national level only in two countries. Despite these disparities, sustained and significant growth has become evident in the last decade, highlighted by the implementation of new programs, the increase in coverage, the expansion of the panel diseases, the enactment of new NBS laws, and the increasing involvement of government and public health authorities.

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Capacity building and networking to make newborn screening for sickle cell disease a reality in Haiti

Cited by 5 publications

References 1 publication

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease

Newborn screening in Latin America: A brief overview of the state of the art

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