Base de dados : LILACS Pesquisa : D12.776.124.400.463.510 [Categoria DeCS] Referências encontradas : 2 [refinar] Mostrando: 1 .. 2   no formato [Detalhado]

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seleciona para imprimir Fotocópia Texto completo SciELO Brasil Viana, Marcos Borato Texto completo Texto completo

Id: lil-713683 Autor: Viana, Marcos Borato; Belisário, André Rolim. Título: De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth Fonte: Rev. bras. hematol. hemoter;36(3):230-234, May-Jun/2014. graf. Idioma: en. Resumo: Cyanosis in an apparently healthy newborn baby may be caused by hemoglobin variants associated with the formation of methemoglobin, collectively known as M hemoglobins. They should not be confused with genetic alterations in methemoglobin reductase enzyme systems of red cells since treatment and prognosis are completely different. A newborn male child was noted to be significantly cyanotic at birth and is the basis for this report. Hemoglobin isoelectric focusing, acid and alkaline gel electrophoresis, and HBA/HBB gene sequencing were performed for the child, both parents and a sister. The newborn child was treated with methylene blue in an intensive care unit fearing that he had a defective reductase system and exposure to oxidant drugs or toxins. Newborn hemoglobin screening with high performance liquid chromatography was abnormal on the 10th and 45th days but no conclusive diagnosis was reached. Cyanosis persisted up to four years of age with no other symptoms. Hemoglobin M Iwate [alpha2 87(F8) His>Tyr, HBA2:c.262C>T] was detected. It was not present in the child's presumed mother, father, sister, and brother. The analysis of 15 short tandem repeats in the trio demonstrated a de novo mutation occurrence (p-value < 1 × 10 -8). The family was reassured that no further action was necessary and genetic counseling was provided. Methemoglobins should be considered for differential diagnosis of cyanosis in newborns even if no familial cases are detected. Except for cosmetic consequences, the clinical course of patients with hemoglobin M Iwate is unremarkable. Descritores: Hemoglobina A2 Hemoglobina M Análise de Sequência de DNA Cianose Focalização Isoelétrica Metemoglobinemia Limites: Humanos Masculino Feminino Tipo de Publ: Relatos de Casos Responsável: BR408.1 - Biblioteca da Faculdade de Medicina - BFM

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Id: lil-555832 Autor: Sun, Yanbo; Wang, Pingyu; Li, Youjie; Jiao, Fei; Li, Zunling; Ma, Ying; Li, Wei; Xie, Shuyang. Título: Familial congenital cyanosis caused by Hb-M Yantai (alfa-76 GAC - TAC, Asp - Tyr) Fonte: Genet. mol. biol;33(3):445-448, 2010. ilus, graf, tab. Idioma: en. Resumo: Methemoglobin (Hb-M) is a rare hemoglobinopathy in China. We hereby report on a family living in Yantai, East China, with congenital cyanosis due to Hb-M mutation. The proband, a 65-year-old female, presented 63 percent oxygen saturation. Both Hb-M concentration and arterial oxygen saturation remained unchanged, even following intravenous treatment with methylene blue. There was also no change in blood-color (chocolate-brown) after adding 0.1 percent KCN. A fast-moving band (Hb-X) in hemolysates was found by cellulose acetate electrophoresis, the Hb-X/Hb-A ratio exceeding 10 percent. GT transition at 131nt of exon 2, although present in one of the alfa2-globin alleles, was not found in alfa1-globin alleles as a whole. This mutation leads to the aspartic acid to tyrosine substitution (Asp76Tyr). In this family, the novel mutation in the alfa2-globin gene resulted in a rare form of congenital cyanosis due to Hb-M. This hemoglobin was named Hb-M Yantai. Descritores: Cianose/congênito Hemoglobina M Metemoglobinemia/congênito -China Globinas Metemoglobina/análise Reação em Cadeia da Polimerase/métodos Limites: Humanos Feminino Idoso Responsável: BR26.1 - Biblioteca Central

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