| Author | Silva, Marcilene Rezende | |
| Author | Sendin, Shimene Mascarenhas | |
| Author | Pimentel, Fernanda Silva | |
| Author | Rodrigues, Cibele Velloso | |
| Author | Romanha, Álvaro José | |
| Author | Viana, Marcos Borato | |
| Access date | 2014-02-10T15:53:43Z | |
| Available date | 2014-02-10T15:53:43Z | |
| Document date | 2012 | |
| Citation | SILVA, Marcilene Rezende et al. Hb Stanleyville-II [ α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil. Hemoglobin. 2012; 36 (4): 388-394 | pt_BR |
| ISSN | 0363-0269 | |
| URI | https://www.arca.fiocruz.br/handle/icict/7308 | |
| Language | eng | pt_BR |
| Publisher | Informa Health Care | pt_BR |
| Rights | restricted access | pt_BR |
| Title | Hb Stanleyville-II [ α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil | pt_BR |
| Type | Article | |
| Abstract | Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the βS allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A] was present in 96 children (85.7%), two in a homozygous state and 94 in a heterozygous state. Its estimated prevalence was 1:11,500. Hbs Hasharon [α47(CE5)Asp→His, GAC>CAC (α2)], Ottawa [α15(A13)Gly→Arg (GGT>CGT) (α2 or α1)], G-Ferrara [β57(E1)Asn→Lys (AAC>AAA or AAG)], St. Luke's [α95(G2)Pro→Arg, C CG>C GG (α1)], Maputo [β47(CD6)Asp→Tyr (GAT>TAT)] and Etobicoke [α84(F5)Ser→Arg (AG C>AG G or CGC or AGA) (α2 or α1)] were also identified. Many children with Hbs Stanleyville-II and Hasharon also co-inherited the −α3.7 thalassemia gene. African ancestry was recognized by parents of all 31 children with Hb Stanleyville-II who were interviewed. Mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values were significantly lower in children with α-thalassemia (α-thal). We came to the conclusion that Hb Stanleyville-II is not so uncommon in Brazil and seems to have originated from the African slave trade. This study reinforces the importance of an accurate diagnosis of variants that have electrophoretic mobility similar to Hb S [β6(A3)Glu→Val, GAG>GTG] so that false diagnoses are avoided. | pt_BR |
| Affilliation | Universidade Federal de Minas Gerais. Faculdade de Medicina. Belo Horizonte, MG, Brasil | pt_BR |
| Affilliation | Universidade Federal de Minas Gerais. Faculdade de Medicina. Belo Horizonte, MG, Brasil | pt_BR |
| Affilliation | Universidade Federal de Minas Gerais. Faculdade de Medicina. Núcleo de Ações e Pesquisa em Apoio Diagnóstico. Belo Horizonte, MG, Brasil | pt_BR |
| Affilliation | Fundação Hemominas. Belo Horizonte, MG, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brasil | pt_BR |
| Affilliation | Universidade Federal de Minas Gerais. Faculdade de Medicina. Belo Horizonte, MG, Brasil/Universidade Federal de Minas Gerais. Faculdade de Medicina. Núcleo de Ações e Pesquisa em Apoio Diagnóstico. Belo Horizonte, MG, Brasil | pt_BR |
| Subject | Hb Stanleyville-II | pt_BR |
| Subject | Sickle Cell Disease | pt_BR |
| Subject | Gene Sequencing | pt_BR |
| Subject | Polymerase Chain Reaction-restriction Fragment Len | pt_BR |
| Subject | Newborn Screening | pt_BR |
