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Hemoglobinopathies

Human Genetics   Research Article

Characterization of molecular hemoglobin c and beta thalassemia

Authors: M.H. Lagares, M.S. Rabelo, C.G.B. Dias-penna, R.S. Mascarenhas, K.S.F. Silva and K.K.V.O. Moura

The hemoglobinopathies are a group of hereditary alterations prevalent in many parts of the world, but significantly affect the Brazilian population for its abundant miscegenation. These alterations in structural genes that cause the formation of hemoglobin variants, and/or regulatory genes, causing thalassemias. Currently, th.. Read More»

Genet. Mol. Res. 16(4):
gmr16039851
DOI:
10.4238/gmr16039851
Human Genetics   Research Article

Three-dimensional visualization of human hemoglobin phenotypes with HPLC

Authors: L.M. Storti-Melo P.H. Mangonaro C.R. ValĂ?ÂȘncio C. Traina Junior C.R.B. Domingos

Hemoglobinopathies were included in the Brazilian Neonatal Screening Program on June 6, 2001. Automated high-performance liquid chromatography (HPLC) was indicated as one of the diagnostic methods. The amount of information generated by these systems is immense, and the behavior of groups cannot always be observed in individua.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr530
DOI:
10.4238/vol8-1gmr530
Microbial Genetics   Abstracts

Contribution to the study of molecular defects of hemoglobin in the Brazilian population

Authors: Paula Juliana Antoniazzo Zamaro

The hemoglobinopathies belong to a diverse group of inherited disorders characterized by the reduced synthesis of one or more globin chains (thalassemia) or the synthesis of a structurally abnormal hemoglobin (Hb). Approximately 900 different hemoglobin variants characterized by mutations involving alpha, beta, gamma, and delta globin chains have been des.. Read More»

Genet. Mol. Res. 7(1):
vol7-1ta012
DOI:
10.4238/vol7-1ta012
Human Genetics   Short communication

Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America

Authors: P.J.A. Zamaro and C.R. Bonini-Domingos

We looked for abnormal hemoglobins in blood samples sent for diagnosis of anemia. Identification of the hemoglobins was made using electrophoretic, chromatographic and molecular procedures. The 2020 blood samples were of patients from various regions of Brazil and from some other Latin American countries. Among the abnormal he.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr721
DOI:
10.4238/vol9-1gmr721