[Neonatal screening for hemoglobinopathies in Rio de Janeiro, Brazil].
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.
Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti (HEMORIO), Serviço de Hematologia Clínica, Rio de Janeiro, Brasil. dt@hemorio.rj.gov.br
Clarisse Lopes de Castro
CL
Lobo
Leíse Marcelo
LM
Bueno
Patricia
P
Moura
Leila Loureiro
LL
Ogeda
Shirley
S
Castilho
Silvia Maia Farias
SM
de Carvalho
D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology*; D001938:Brazil / Q000453:epidemiology; D002391:Catchment Area, Health; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening