The National Neonatal Screening Program (PNRN) identified 118 cases of sickle cell anemia in May 2021, a disorder that affects red blood cells and is one of the diseases monitored using the so-called heel prick test.
According to the Ricardo Jorge National Institute of Health (INSA) this Wednesday, sickle cell anemia is the latest pathology to be included in the group of diseases monitored by the “heel prick test”, following a proposal made in 2016 by the Portuguese Association of Doctors. Parents and patients with hemoglobinopathies.
According to the institute, following an assessment by the national technical committee and a feasibility assessment at the laboratory level by the PNRN executive committee, the green light was given for the pilot study, which has already tracked more than 100,000 newborns. two years to decide whether sickle cell disease will be included in the program’s list of diseases.
This Wednesday marks International Cellular Disease Day, or World Sickle Cell Awareness Day. It was established in 2008 by the United Nations to raise awareness of blood diseases, which are genetic and affect red blood cells, causing intense pain and anemia that affect the quality of life of patients.
Since 1979, the PNRN has screened all newborns for certain serious medical conditions, called the heel prick test, which identifies children with conditions that are almost always genetic and who may benefit from early treatment. care.
The program currently monitors 26 diseases.
Neonatal screening continues to be a “highly successful national program demonstrating high quality, as evidenced by coverage rates of over 99% of newborns and initiation of therapeutic intervention” in an average of 10 days, INSA also highlighted.
In 2023, the PNRN screened 85,764 newborns and performed 2,328 heel prick tests, compared to 2022 (83,436).
In 2023, 150 cases were diagnosed: 54 of hereditary metabolic diseases, 50 of congenital hypothyroidism, 6 of cystic fibrosis, 34 of sickle cell anemia and 6 of spinal muscular atrophy.
According to the institute, from 1979 until the end of 2023, more than 4.2 million newborns were screened and 2,692 cases of rare diseases were identified, allowing all patients to begin specific treatment immediately.
Author: Lusa
Source: CM Jornal
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