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


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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Hospital General Universitario Gregorio Marañón


High-performance liquid chromatography


Isoelectric focusing


Newborn screening


Spanish Registry of Hemoglobinopathies


Sickle cell disease


Spanish Society of Hematology and Pediatric Oncology


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Correspondence to Eduardo J. Bardón-Cancho.

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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).

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  • Sickle cell disease
  • Newborn screening
  • Spain
  • Diagnosis
  • Madrid
  • Efficiency