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Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil.

By Elis??ngela Vit??ria Adorno, F??bio David Couto, Jos?? Pereira de Moura Neto, Joelma Figueiredo Menezes, Marco R??go, Mitermayer Galv??o dos Reis and Marilda Souza Gon??alves


Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous ??2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and ??2 3.7 Kb and ??2 4.2 Kb thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had ??2 3.7 Kb thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal ?? genes and ??2 3.7 Kb thalassemia carriers. The ??2 4.2 Kb thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs

Topics: Hemoglobinopathies, Sickle Cell Anemia, Thalassemia, Newborn Infant, Anemia Falciforme, Estudos Transversais, Sangue Fetal, Frequ??ncia do Gene, Gen??tipo, Hemoglobinas Anormais, Triagem Neonatal, Preval??ncia, Talassemia alfa, Rec??m-Nascido, Feminino, Humanos
Year: 2005
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