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| Kimura,Elza M.; Oliveira,Denise M.; Fertrin,Kleber; Pinheiro,Valéria R.; Jorge,Susan E.D.C.; Costa,Fernando F.; Sonati,Maria de Fátima. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemoglobinopathies; Alpha-thalassemia; Hb H disease; Hb Icaria. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400007 |
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| Miranda,Silvia R.P.; Fonseca,Silvana F.; Figueiredo,Maria S.; Yamamoto,Myoko; Grotto,Helena Z.W.; Saad,Sara T.O.; Costa,Fernando F.. |
| Hb Köln was identified by DNA analysis in a Brazilian patient. A four-year old Brazilian female, with jaundice since birth, presented an abnormal band, between A2 and S, in hemoglobin electrophoresis on a cellulose acetate membrane, and a band with electrophoretic migration similar to Hb C on agar gel. Thermic instability and isopropanol precipitation tests were positive. Heinz bodies were observed in the patients peripheral blood. Sequencing of the three exons of the <FONT FACE="Symbol">b</font> globin gene detected a transition from G to A in the first position of codon 98. This alteration does not create or abolish any known restriction site. In this case, confirmation of the mutation was accomplished by allele-specific oligonucleotide... |
| Tipo: Info:eu-repo/semantics/other |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400030 |
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| Mota,Natália O.; Kimura,Elza M.; Ferreira,Roberta D.; Pedroso,Gisele A.; Albuquerque,Dulcinéia M.; Ribeiro,Daniela M.; Santos,Magnun N. N.; Bittar,Cristina M.; Costa,Fernando F.; Sonati,Maria de Fatima. |
| Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Α-Thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; MLPA; Brazilian population. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768 |
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