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Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country

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Abstract

Sickle cell disease (SCD) describes a set of chronic inherited anemias characterized by hemolysis, episodes of vaso-occlusion, and high infectious risk, with high morbidity and mortality. Newborn screening (NBS) for SCD allows family health education and early start of infectious prophylaxis. In the Community of Madrid, a pilot universal NBS study found that the SCA birth prevalence was 1/5851 in newborns, higher than expected, confirming the need to include early detection in the NBS program. The aim of the present prospective single-center study is to analyze the results of newborn SCD screening in Madrid in terms of epidemiological data and its inclusion in a comprehensive care program during the last 15 years, between 1st of May 2003 and 1st of May 2018. During the study period, 1,048,222 dried bloodspots were analyzed. One hundred ninety-seven patients were diagnosed with possible SCD (HPLC phenotype of FS, FSA, FSC, FSE, FSDPunjab, FSOArab), with 187 patients finally confirmed (birth prevalence 1/5552 newborns, 0.18 per 1000 live births), and 1 out of 213 infants carried Hb S. All of them were seen by a specialist clinician; median age at the first visit consultation was 35 days and median age at the beginning of penicillin treatment was 66 days. The Madrid SCD NBS program achieved high rates of sensitivity and specificity and good quality of care assistance. Establishing a good relationship with the family, a strong education program, and a multidisciplinary team that includes social workers and a psychologist are needed to ensure the success of early intervention.

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Abbreviations

Hb:

Hemoglobin

HGUGM:

Hospital General Universitario Gregorio Marañón

HPLC:

High-performance liquid chromatography

IEF:

Isoelectric focusing

NBS:

Newborn screening

REHem:

Spanish Registry of Hemoglobinopathies

SCD:

Sickle cell disease

SEHOP:

Spanish Society of Hematology and Pediatric Oncology

References

  1. Piel FB (2016) The present and future global burden of the inherited disorders of hemoglobin. Hematol Oncol Clin North Am 30(2):327–341. https://doi.org/10.1016/j.hoc.2015.11.004

    Article  PubMed  Google Scholar 

  2. Weatherall DJ, Hay SI (2013) Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet 381(9861):142–151. https://doi.org/10.1016/S0140-6736(12)61229-X

    Article  PubMed  PubMed Central  Google Scholar 

  3. Rees DC, Williams TN, Gladwin MT (2010) Sickle-cell disease. Lancet. 376(9757):2018–2031

    Article  CAS  Google Scholar 

  4. Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L et al (2018) Sickle cell disease. Nat Publ Gr 4:1–22

    Google Scholar 

  5. Naik RP, Haywood C (2015) Sickle cell trait diagnosis: clinical and social implications. Hematol Am Soc Hematol Educ Program 2015(1):160–167. http://www.ncbi.nlm.nih.gov/pubmed/26637716. Accessed 21 Jan 2020

  6. Rogers DW, Clarke JM, Cupidore L, Ramlal AM, Sparke BR, Serjeant GR (1978) Early deaths in Jamaican children with sickle cell disease. Br Med J 1(6126):1515–1516

    Article  CAS  Google Scholar 

  7. Leikin S, Gallagher D, Kinney T, Sloane D, Klug P, Rida W (1989) Mortality in children and adolescents with sickle cell disease: cooperative study of sickle cell disease. Paediatrics. 84:500

    CAS  Google Scholar 

  8. Seeler RA (1972) Deaths in children with sickle cell anemia. A clinical analysis of 19 fatal instances in Chicago. Clin Pediatr 11:634–637. https://journals.sagepub.com/doi/abs/10.1177/000992287201101111. Accessed 21 Jan 2020

  9. Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B (1988) Newborn screening for sickle cell disease: effect on mortality. Pediatrics 81(6):749–755. http://www.ncbi.nlm.nih.gov/pubmed/3368274. Accessed 21 Jan 2020

  10. Lee A, Thomas P, Cupidore L, Serjeant B, Serjeant G (1995) Improved survival in homozygous sickle cell disease: lessons from a cohort study. BMJ 311(7020):1600–1602. http://www.ncbi.nlm.nih.gov/pubmed/8555802. Accessed 21 Jan 2020

  11. Gaston MH, Verter JI, Woods G, Pegelow C, Kelleher J, Presbury G, Zarkowsky H, Vichinsky E, Iyer R, Lobel JS, Diamond S, Holbrook CT, Gill FM, Ritchey K, Falletta JM, For the Prophylactic Penicillin Study Group (1986) Prophylaxis with oral penicillin in children with sickle cell anemia. N Engl J Med 314(25):1593–1599. https://doi.org/10.1056/NEJM198606193142501

    Article  CAS  PubMed  Google Scholar 

  12. Halasa NB, Shankar SM, Talbot TR, Arbogast PG, Mitchel EF, Wang WC, Schaffner W, Craig AS, Griffin MR (2007) Incidence of invasive pneumococcal disease among individuals with sickle cell disease before and after the introduction of the pneumococcal conjugate vaccine. Clin Infect Dis 44(11):1428–1433

    Article  CAS  Google Scholar 

  13. Cela E, Bellón JM, de la Cruz M, Beléndez C, Berrueco R, Ruiz A et al (2017) National registry of hemoglobinopathies in Spain (REPHem). Pediatr Blood Cancer 64(7):1–8

    Article  Google Scholar 

  14. Bardón Cancho EJ, García-Morín M, Beléndez C, Velasco P, Benéitez D, Ruiz-Llobet A, Berrueco R, Argilés B, Cervera Á, Salinas JA, Vecilla C, Gondra A, Vallés G, Murciano T, Bermúdez M, Cela E, Representing the erythropathology working group of the Spanish Society of Pediatric Hematology and Oncology (SEHOP) (2020) Update of the Spanish registry of haemoglobinopathies in children and adults. Med Clin (Barc) S0025–7753(19):30717–30711. https://doi.org/10.1016/j.medcli.2019.10.011

    Article  Google Scholar 

  15. Dulín Iñíguez E, Cantalejo López MA, Cela de Julián ME, Galarón García P (2003) Detección precoz neonatal de anemia falciforme y otras hemoglobinopatías en la comunidad autónoma de Madrid. Estudio piloto. An Pediatría 58(2):146–155. http://www.sciencedirect.com/science/article/pii/S1695403303780187. Accessed 22 Jan 2020

  16. Lorey F, Cunningham G, Shafer F, Lubin B, Vichinsky E (1994) Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens. Eur J Hum Genet 2(4):262–271

    Article  CAS  Google Scholar 

  17. Telfer P, Lobitz S, Cela E, Allaf B, Backman C, Badens C et al (2018) Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br J Haematol 183(4):648–660. http://www.ncbi.nlm.nih.gov/pubmed/7704556. Accessed 22 Jan 2020

  18. Cela E, Ruiz A, Cervera A, et al (2019) Guía de Práctica Clínica de la Enfermedad de Células Falciformes. Sociedad Española de Hematología y Oncología Pediátrica (SEHOP). Ediciones CeGe. ISBN 978–84–944935-5-3. [Consultado 30 Julio 2019]

  19. Sociedad Española De Hematología Pediátrica (SEHP) (2002) Protocolo de Anemia de Células Falciformes o Drepanocitosis DREP-2002-SEHP

  20. Instituto Nacional de Estadística (2020) Movimiento Natural de la Población: Nacimientos [Internet]. https://www.ine.es/jaxiT3/Tabla.htm?t=6506. Accessed 22 Jan 2020

  21. Instituto de Estadística de la Comunidad de Madrid (2020) [Internet]. http://www.madrid.org/iestadis/fijas/otros/estructu_indemt.htm. Accessed 22 Jan 2020

  22. Akl PS, Kutlar F, Patel N, Salisbury CL, Lane PYA (2009) Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn]. Lab Hematol 15, 20(3):–4. https://www.ncbi.nlm.nih.gov/pubmed/?term=10.1532%2FLH96.09004. Accessed 21 Feb 2020

  23. Streetly A, Sisodia R, Dick M, Latinovic R, Hounsell K, Dormandy E (2017) Evaluation of newborn sickle cell screening programme in England: 2010–2016. 2010–6

  24. Quinn CT, Rogers ZR, Mccavit TL, Buchanan GR (2010) Improved survival of children and adolescents with sickle cell disease. Blood J 115(17):3447–3452

  25. Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Williams TN et al (2010) Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. Nat Commun 1(8):104. http://www.nature.com/doifinder/10.1038/ncomms1104. Accessed 23 Jan 2020

  26. Piel FB, Tatem AJ, Huang Z, Gupta S, Williams TN, Weatherall DJ (2014) Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000. Lancet Glob Heal 2(2):e80–e89. http://linkinghub.elsevier.com/retrieve/pii/S2214109X13701505. Accessed 23 Jan 2020

  27. Almeida AM, Henthorn JS, Davies SC (2001) Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region. Br J Haematol 112(1):32–35 Available from: http://www.ncbi.nlm.nih.gov/pubmed/11167779

    Article  CAS  Google Scholar 

  28. Streetly A, Latinovic R, Henthorn J (2005) Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005–07. 626–629

  29. NHS Sickle cell and thalassaemia screening programme data report 2016 to 2017: trends and performance analysis [Internet]. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/713120/SCT_data_report_2016_to_2017.pdf. Accessed 21 Jan 2020

  30. Bardakjian J, Benkerrou M, Bernaudin F, Briard ML, Ducrocq R, Lambilliotte A, Léna-Russo D, de Montalembert M, Thuret I, Bégué P, Elion J, Galactéros F; Travail du Groupe sur le dépistage néonatal de la drépanocytose (2000). Neonatal screening of sickle cell anemia in metropolitan France. Arch Pediatr 7(12):1261–1263. https://doi.org/10.1016/s0929-693x(00)00140-8 Available from: http://www.ncbi.nlm.nih.gov/pubmed/11147058

  31. Bardakdjian-Michau J1, Bahuau M, Hurtrel D, Godart C, Riou J, Mathis M, Goossens M, Badens C, Ducrocq R, Elion J, Perini JM. (2009) Neonatal screening for sickle cell disease in France. J Clin Pathol 62(1):31–33. https://doi.org/10.1136/jcp.2008.058867. http://www.ncbi.nlm.nih.gov/pubmed/19103855

  32. Thuret I, Sarles J, Merono F, Suzineau E, Collomb J, Lena-Russo D, Levy N, Bardakdjian J, Badens C (2010) Neonatal screening for sickle cell disease in France: evaluation of the selective process. J Clin Pathol 63(6):548–551

  33. Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant. Le dépistage de la drépanocytose en 2016 [Internet]. http://www.afdphe.org/ewb_pages/a/administration-1347.php. Accessed 17 Dec 2019

  34. Gulbis B, Tshilolo L, Cotton F, Lin C,Vertongen F (1999) Newborn screening for haemoglobinopathies: the Brussels experience. J Med Screen 6(1):11–15

  35. Cotton Ł, LebouchardM, Cochaux P, Vertongen F (2006) Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels. 13(2):76–78

  36. Gulbis B, Lê P-Q, Ketelslegers O, Dresse M-F, Adam A-S, Cotton F, Boemer F, Bours V, Minon J-M, Ferster A (2018) Neonatal screening for sickle cell disease in Belgium for more than 20 years: an experience for comprehensive care improvement. Int J Neonatal Screen 4:37

  37. Henthorn JS, Almeida AM, Davies SC (2004) Neonatal screening for sickle cell disorders. Br J Haematol 124(3):259–263

  38. Therrell BL Jr, Lloyd-Puryear MA, Eckman JR, Mann MY (2015) Newborn screening for sickle cell diseases in the United States: a review of data spanning 2 decades. Semin Perinatol 39(3):238–251. https://doi.org/10.1053/j.semperi.2015.03.08

  39. Cela E, Dulín E, Guerrero M, Arranz M, Galarón P, Beléndez C, Bellón JM, García Arias M, López AC (2007) Evaluación en el tercer año de implantación del cribado neonatal universal de anemia falciforme en la Comunidad de Madrid. 66(4):382–386

  40. González Santiago P, Ruiz-Alvarez M, Arribas Gómez I, Vecilla Rivelles MC, Aracil Santos FJ (2008) Selective neonatal screening for sickle cell disease. An Pediatr (Barc) 68(4):407–408

  41. Castilla-Rodríguez I, Cela E, Vallejo-Torres L, Valcárcel-Nazco C, Dulín E, Espada M, Rausell D, Mar J, Serrano-Aguilar P (2016) Cost-effectiveness analysis of newborn screening for sickle-cell disease in Spain. Expert Opinion on Orphan Drugs 4(6):567–575. https://doi.org/10.1080/21678707.2016.1179572

  42. Inusa BPD, Colombatti R (2017) European migration crises: the role of national hemoglobinopathy registries in improving patient access to care. Pediatr Blood Cancer 64(7):7–8

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Author information

Authors and Affiliations

  1. Pediatric Hematology Unit, “Hospital General Universitario Gregorio Marañón”, Facultad de Medicina, Universidad Complutense de Madrid, España. Instituto Investigación Sanitaria Gregorio Marañón, C/ Maiquez, 9, 28007, Madrid, Spain

    Marina García-Morín, Eduardo J. Bardón-Cancho, Cristina Beléndez, Rosario Zamarro, Cristina Béliz-Mendiola & Elena Cela

  2. Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

    Cristina Beléndez & Elena Cela

  3. Newborn Screening Laboratory, Hospital General Universitario Gregorio Marañón, C/Maiquez, 9, 28007, Madrid, Spain

    Milagros González-Rivera & Elena Dulín

  4. Pediatric Hematology Unit, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Spain

    Cruz Vecilla

  5. Department of Pediatrics, Hospital Universitario de Fuenlabrada, Fuenlabrada, Spain

    Lucía Llorente-Otones

  6. Pediatric Hematology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain

    Vanesa Pérez-Alonso

  7. Pediatric Hematology Unit, Hospital Universitario La Paz, Madrid, Spain

    Sonsoles San Román

  8. Pediatric Hematology Unit, “Hospital Infantil Universitario Niño Jesús”, Av. de Menéndez Pelayo, 65, 28009, Madrid, Spain

    Elena Sebastián

Authors
  1. Marina García-Morín
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  2. Eduardo J. Bardón-Cancho
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  3. Cristina Beléndez
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  4. Rosario Zamarro
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  5. Cristina Béliz-Mendiola
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  6. Milagros González-Rivera
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  7. Cruz Vecilla
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  8. Lucía Llorente-Otones
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  9. Vanesa Pérez-Alonso
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  10. Sonsoles San Román
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  11. Elena Sebastián
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  12. Elena Dulín
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  13. Elena Cela
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Corresponding author

Correspondence to Eduardo J. Bardón-Cancho.

Ethics declarations

The Pediatric Hematology Unit of the HGUGM is responsible for this study, which has been approved by the Ethics Committee and the Spanish Data Protection Agency. After their consultation visit, the parents signed written informed consent according to the Declaration of Helsinki.

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García-Morín, M., Bardón-Cancho, E.J., Beléndez, C. et al. Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country. Ann Hematol 99, 1465–1474 (2020). https://doi.org/10.1007/s00277-020-04044-z

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