beta-thalassemia intermedia in a Brazilian patient with - 101(C &gt; T) and codon 39 (C &gt; T) mutations

Sousa, Sylvia Morais de; Khater, Letícia; Peroni, L; Miranda, Karine; Murai, Marcelo J.; Albuquerque, Dulcinéia Martins; Arruda, Paulo; Saad, Sara T.O.; Costa, Fernando Ferreira

doi:10.1590/s1516-31802003000100007

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“…The expression of beta thalassemia is variable; it may present a clinical phenotype of severe anemia, dependent on blood transfusions or be asymptomatic . 7,19 In the molecular analyses, five different mutations for beta thalassemia were found: three CD 6 (-A), one CD 39, one IVI I-6, one -87 (originating from the Mediterranean region) and one IVS II -654 (from Asia). Fonseca et al (1998), in a thalassemia research group from São Paulo state, found CD 39 (C→T), IVSI-6 (T→C), IVSI-110 (G→A) and IVSI-1 (G→T) mutations with the commonest being CD 39.…”

Section: Discussionmentioning

confidence: 99%

The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

Zamaro¹,

Bonini-Domingos²

2010

Rev. Bras. Hematol. Hemoter.

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Hemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electrophoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population. Rev. Bras. Hematol. Hemoter. 2010;32(3):215-218. Palavras-chave:Beta-thalassemia; fetal hemoglobin; molecular biology.

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Section: Discussionmentioning

confidence: 99%

The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

Zamaro¹,

Bonini-Domingos²

2010

Rev. Bras. Hematol. Hemoter.

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beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations

Abstract: This case represents the first description of -101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.

Cited by 1 publication

References 2 publications

The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

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