High Frequency of Hb E-Saskatoon (HBB: c.67G > A) in Brazilians: A New Genetic Origin?

Autor: Sidney Santos, Juliana Dal-Ri Lindenau, Ana Paula Santin, Sandrine Comparsi Wagner, Carina da Fontoura Zaleski, Mara H. Hutz, Laura Alencastro de Azevedo, Simone Martins de Castro, Ândrea Kely Campos Ribeiro dos Santos

Publikováno v: Hemoglobin. 40:228-230

Hb E-Saskatoon [β22(B4)Glu→Lys, HBB: c.67G A] is a rare, nonpathological β-globin variant that was first described in a Canadian woman of Scottish and Dutch ancestry and has since then been detected in several populations. The aim of the present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f052fde6a976fdd4a2a08ef33a8b775c
https://doi.org/10.1080/03630269.2016.1189433

Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia

Autor: Carina da Fontoura Zaleski, Simone Martins de Castro, Laura Alencastro de Azevedo, Tatiana Pereira Gonzalez, Bruna Amorin, Ana Paula Santin, Sandrine Comparsi Wagner, Mara H. Hutz, Sidia M. Callegari-Jacques, Letícia Filippon

Publikováno v: Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 33, Issue: 4, Pages: 641-645, Published: 29 OCT 2010
Genetics and Molecular Biology v.33 n.4 2010
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 641-645 (2010)

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one indivi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4521768734f8f8df7584de7f75969c99
http://europepmc.org/articles/PMC3036136

Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil

Autor: Clarissa Gutierrez Carvalho, Ana Paula Santin, Felipe Gutiérrez Carvalho, Roberto Giugliani, Carina da Fontoura Zaleski, Simone Martins de Castro

Publikováno v: Asian Pacific journal of tropical biomedicine. 1(2)

To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice.Prospective, observational case-control study was conducted on 490 newborns admitted to Hospital de Clínicas de Porto Alegre for photothera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6546a6bd79762cc710f4aa9a1056fd30
https://pubmed.ncbi.nlm.nih.gov/23569738