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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Chinelato-Fernandes, A. R. Mendiburu, C. F. Bonini-Domingos, C. R. |
| Description | Country affiliation: Brazil Responsible library: BR1.1 Author Affiliation: Chinelato-Fernandes, A. R ( Instituto de Biociências, Letras e Ciências Exatas. Laboratório de Hemoglobinas e Genética das Doenças Hematológicas. São José do Rio Preto. BR); Mendiburu, C. F ( Universidad Nacional de Misiones. Faculdad de Ciencias Exactas, Quimicas y Naturales. Misiones. AR); Bonini-Domingos, C. R ( Instituto de Biociências, Letras e Ciências Exatas. Laboratório de Hemoglobinas e Genética das Doenças Hematológicas. São José do Rio Preto. BR) |
| Abstract | Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC --> CAC) of the alpha2-globin gene, resulting in the replacement of asparagine by histidine during the translation process. Ten blood samples from individuals suspected of being Hb Hasharon carriers were analyzed. In addition to classic laboratory tests and high-performance liquid chromatography, molecular analysis by polymerase chain reaction with restriction fragment length polymorphism designed in the laboratory was performed to confirm this mutation. The study of these cases showed that a combination of classical and molecular methodologies is necessary in the diagnosis of hemoglobinopathies for a correct hemoglobin mutant identification. The accurate identification of hemoglobin variants is essential for genetic counseling and choice of therapy. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 1 |
| Volume Number | 5 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Infant Adolescent Child, Preschool Hemoglobins, Abnormal Genetics Heterozygote Detection Chromatography, High Pressure Liquid Dna Mutational Analysis Electrophoresis, Cellulose Acetate Heterozygote Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article |
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