Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil.

BACKGROUND: Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro. PROCEDURE: Blood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs. RESULTS: Data showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program. CONCLUSION: Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD.

[Neonatal screening for hemoglobinopathies in Rio de Janeiro, Brazil]. / Triagem neonatal para hemoglobinopatias no Rio de Janeiro, Brasil.

OBJECTIVE: To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001. METHODS: Starting in August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care clinics in the state of Rio de Janeiro. The samples were submitted to high-resolution liquid chromatography. If the resulting chromatogram was compatible with sickle cell disease, the child and the parents were referred for diagnostic confirmation and treatment. RESULTS: Between August 2000 and November 2001, 99 260 newborns were screened. There was one case of homozygous Hb C. On average, one of every 27 newborns who were screened presented sickle cell trait (Hb AS). Sickle cell disease was observed in 83 cases, or one new case in each 1 196 births. The 83 consisted of: 62 Hb S, 18 Hb SC, and 3 Hb SD. One child did not appear for diagnostic confirmation. The 82 children who were followed up by the program presented 15 intercurrent illnesses (upper respiratory infections, fever, splenic sequestration crises, hand-foot syndrome, and vascular occlusion), resulting in seven hospital admissions. Blood transfusions were necessary with 15 children, but none developed alloimmunization. All the other babies were doing well with the use of prophylactic penicillin. CONCLUSIONS: Our data show the importance of early diagnosis for sickle cell disease, so as to prevent the frequent infectious complications faced by these patients.