3 documents found, page 1 of 1
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proport...
Hemoglobin A2 values in sickle cell disease patients quantified by high perform...
Fonseca,Silvana Fahel da; Amorim,Tatiana; Purificação,Antônio; Gonçalves,Marilda; Boa-Sorte,NeyBACKGROUND: In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/ß0-thalassemia.OBJECTIVE: To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without concomitant alpha thalassemia.METHODS: This is a retrospecti...
Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, to...
Boa-Sorte,Ney; Purificação,Antônio; Amorim,Tatiana; Assunção,Lorena; Reis,Alan; Galvão-Castro,BernardoIntroduction:Screening for vertically transmitted infection is mandatory and must be conducted at the first prenatal consultation. The most vulnerable women's groups are those at the lowest socio-economic level. Dried blood spot testing on filter paper could represent a secure way to screen pregnant women in the prenatal period.Methods:A cross-sectional study was conducted between November 2009 and March 2010, ...