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Previous issue date: 2011-11-25 / Sickle cell disease is a chronic hemolytic anemia, recessive autossomal, caused by a mutation on chromosome 11. This mutation causes a substitution of a valine for a glutamic acid at position six of hemoglobin -chain, leading the formation of hemoglobin S inside the red cells. Gilbert's syndrome is caused by the insertion of a dinucleotide "TA" in the UGT1A1 gene promoter region, causing a reduction in the activity of UDP-glucoronosyl-transferase, the enzyme responsible for bilirubin conjugation. Several authors have described a possible relationship between sickle cell anemia and Gilbert's syndrome, however, consistent data to support this hypothesis are not available in the literature. This study evaluated the dinucleotide TA6 and TA7 in the promoter region of the UGT1A1 gene in patients with sickle cell anemia and sickle cell trait. This study included 65 patients. Sixty one patients had sickle cell trait, 14 were homozygous (TA)6/(TA)6 (19.6%), 32 were homozygous (TA)7/(TA)7 (54%), and 16 heterozygote (TA)6/(TA)6 (26.2%). Between the four patients with sickle cell anemia, three were homozygous for (TA)7/(TA)7 and one heterozygous (TA)6/(TA)7. The results obtained with patients with sickle cell anemia are similar to data described in the literature; however, additional studies are needed to verify if this relationship may interfere with bilirubin levels, especially in patients with sickle cell trait. / A doen?a de c?lulas falciformes ? uma anemia hemol?tica cr?nica de car?ter autoss?mico recessivo, causada por uma muta??o pontual no cromossomo 11. Esta muta??o provoca a substitui??o de um ?cido glut?mico por uma valina na posi??o seis da cadeia  da hemoglobina, fazendo com que ocorra a forma??o da hemoglobina S dentro dos eritr?citos. A s?ndrome de Gilbert ? causada pela inser??o de um dinucleot?deo TA na regi?o promotora do gene UGT1A1, ocasionando uma redu??o na atividade da UDP-glucoronosil transferase, enzima respons?vel pela conjuga??o da bilirrubina. Autores descrevem uma poss?vel rela??o entre a anemia falciforme e a s?ndrome de Gilbert, todavia faltam dados na literatura para confirmar esta hip?tese. O presente estudo avaliou o dinucleot?deo TA6 e TA7 na regi?o promotora do gene UGT1A1 em pacientes com anemia falciforme e tra?o falciforme. Participaram do estudo 65 pacientes, destes, 61 possu?am tra?o falciforme, sendo 14 homozigotos (TA)6/(TA)6 (19,6%), 32 homozigotos (TA)7/(TA)7 (54%) e 16 heterozigotos (TA)6/(TA)6 (26,2%). Dos quatro pacientes com anemia falciforme tr?s eram homozigotos para (TA)7/(TA)7 e um heterozigoto (TA)6/(TA)7. Os resultados encontrados nos pacientes com anemia falciforme s?o semelhantes aos dados descritos na literatura, todavia, estudos adicionais s?o necess?rios para verificar se essa rela??o pode interferir nos n?veis de bilirrubina indireta, principalmente em pacientes com tra?o falciforme.
| Identifer | oai:union.ndltd.org:IBICT/oai:tede2.pucrs.br:tede/1650 |
| Date | 25 November 2011 |
| Creators | Antunes, Liana |
| Contributors | Machado, Denise Cantarelli |
| Publisher | Pontif?cia Universidade Cat?lica do Rio Grande do Sul, Programa de P?s-Gradua??o em Medicina e Ci?ncias da Sa?de, PUCRS, BR, Faculdade de Medicina |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Format | application/pdf |
| Source | reponame:Biblioteca Digital de Teses e Dissertações da PUC_RS, instname:Pontifícia Universidade Católica do Rio Grande do Sul, instacron:PUC_RS |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 7620745074616285884, 500, 600, -8624664729441623247 |
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