RESUMO
In this study we report three cases of Hb Ube-1, one case of Hb Ube-2 and one case of Hb Ube-4 in mainland China. One case of Hb Ube-1 had the clinical manifestation of hemolytic anemia. Hb Ube-2 and Hb Ube-4 did not appear to be associated with clinical or hematological abnormalities. The variants were detected by Hb electrophoresis during a thalassemia screening. Genomic DNA was extracted from the peripheral blood leukocytes of Hb specimens. α1, α2 and ß-globin genes were amplified by polymerase chain reaction (PCR). All variants were confirmed by DNA sequence analysis and the PCR-restriction fragment length polymorphism assay.
Assuntos
Povo Asiático/genética , Hemoglobinas/genética , Adulto , China , Feminino , Variação Genética , Genoma Humano , Hemoglobinas Anormais/genética , Humanos , Leucócitos/imunologia , Leucócitos/metabolismo , Masculino , Polimorfismo de Fragmento de Restrição , Análise de Sequência de DNA , Adulto JovemRESUMO
Hemoglobin (Hb) Ottawa [α15 (A13) GlyâArg], also known as Hb Siam, was first described in an 82-year-old Canadian in 1974. The same year, a second case was reported in a 28-year-old Chinese male living in Thailand. A third case was found in 1986 in a Chinese female living in the Hubei province of China. Since then, there have been no reports of Hb Ottawa in mainland China in the English literature. Hb Ottawa results from a GGTâCGT mutation in codon 15 of the α1 or α2-globin gene. Hb Ottawa carriers do not present any clinical symptoms or hematological changes, and are often diagnosed during a health examination and thalassemia screening. In a hemoglobin survey of 9745 students in Chaozhou, Guangdong, China, we identified four cases of Hb Ottawa in a thalassemia screening by Hb electrophoresis, and confirmed it to be the result of a GGTâCGT mutation in codon 15 of the α2-globin gene by DNA sequence analysis.
