Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil
Hb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We descr...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2009-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007&lng=en&tlng=en |
| _version_ | 1828482146081177600 |
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| author | Elza M. Kimura Denise M. Oliveira Kleber Fertrin Valéria R. Pinheiro Susan E.D.C. Jorge Fernando F. Costa Maria de Fátima Sonati |
| author_facet | Elza M. Kimura Denise M. Oliveira Kleber Fertrin Valéria R. Pinheiro Susan E.D.C. Jorge Fernando F. Costa Maria de Fátima Sonati |
| author_sort | Elza M. Kimura |
| collection | DOAJ |
| description | Hb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian population. |
| first_indexed | 2024-12-11T08:10:23Z |
| format | Article |
| id | doaj.art-f315857f3000461982c4acbc87f89948 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T08:10:23Z |
| publishDate | 2009-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-f315857f3000461982c4acbc87f899482022-12-22T01:14:55ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852009-01-01324712715S1415-47572009000400007Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in BrazilElza M. Kimura0Denise M. Oliveira1Kleber Fertrin2Valéria R. Pinheiro3Susan E.D.C. Jorge4Fernando F. Costa5Maria de Fátima Sonati6Universidade Estadual de CampinasUniversidade Estadual de CampinasUniversidade Estadual de CampinasCentro Infantil Dr. Domingos A. BoldriniUniversidade Estadual de CampinasUniversidade Estadual de CampinasUniversidade Estadual de CampinasHb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0%, respectively). This is the first description of this infrequent association in the Brazilian population.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007&lng=en&tlng=enhereditary hemoglobinopathiesalpha-thalassemiaHb H diseaseHb Icaria |
| spellingShingle | Elza M. Kimura Denise M. Oliveira Kleber Fertrin Valéria R. Pinheiro Susan E.D.C. Jorge Fernando F. Costa Maria de Fátima Sonati Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil Genetics and Molecular Biology hereditary hemoglobinopathies alpha-thalassemia Hb H disease Hb Icaria |
| title | Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil |
| title_full | Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil |
| title_fullStr | Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil |
| title_full_unstemmed | Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil |
| title_short | Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil |
| title_sort | hb h disease resulting from the association of an αº thalassemia allele α 20 5 with an unstable α globin variant hb icaria first report on the occurrence in brazil |
| topic | hereditary hemoglobinopathies alpha-thalassemia Hb H disease Hb Icaria |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007&lng=en&tlng=en |
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