Mild clinical expression of S-&lt;FONT FACE=Symbol&gt;b&lt;/font&gt; thalassemia in a Brazilian patient with the &lt;FONT FACE=Symbol&gt;b&lt;/font&gt;+ IVS-I-6 (T&lt;FONT FACE=Symbol&gt;®&lt;/font&gt;C) mutation

Sonati, María de Fátima; Kaeda, Jaspal; Kimura, Elza; Costa, Fernando Ferreira; Luzzatto, Lucio

doi:10.1590/s1415-47571998000400002

Cited by 3 publications

(3 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Sonati et al reported an 8-year-old Brazilian girl with sickle cell-β-thal, who had the HBB: c.92þ6T>C [IVS-I-6 (T>C)] mutation associated with the C>T polymorphism at codon 2. The DNA sequencing of the patient's mother showed her to be heterozygous for the HBB: c.92þ6T>C and homozygous for the C>T polymorphism at codon 2 (25).…”

mentioning

confidence: 99%

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

2013

View full text Add to dashboard Cite

β-Thalassemia (β-thal) is a hereditary disease with at least 200 known causative molecular defects, with a limited number of distinct mutations predominating in any given population. The Brazilian population is one of the most heterogeneous in the world. Although occurrences of β-thal in this country have been recognized for a long time and previous studies have shown important regional differences related to the mutational profile, no extensive analysis of mutations of the HBB gene has been carried out in Brazil. We examined 1011 teenagers from Bahia, a state located in the northeast of Brazil. Hematological data were obtained using automated cell counting, hemoglobin (Hb) profiles were studied by high performance liquid chromatography (HPLC), and DNA was analyzed by automated sequencing. None of the four Mediterranean mutations that are most frequently found in South and Southeast Brazil (HBB: c.118C>T; HBB: c.93-21G>A; HBB: c.92+1G>A; HBB: c.92+6T>C), was found to be responsible for thalassemia in the cases that we studied. One heterozygote for a frameshift mutation at codon 44 (-C) was identified. This is the first study to determine the prevalence and profile of β-thal in Bahia State. For the first time in Brazil, we report the occurrence of the HBB: c.135delC mutation in the β-globin gene.

show abstract

mentioning

confidence: 99%

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

2013

View full text Add to dashboard Cite

show abstract

“…The explanation might be the different degree of suspension of the beta globin synthesis with mutations present in the Greek (7) (Caucasians) and Brazilian (mixed race) populations. The Brazilian population of S/Beta thalassemia might have benign African mutations (2,(14)(15)(16)(17) besides the classical Mediterranean ones. In the Mediterranean region, two-thirds of the population with sickle cell disease is composed of S/Beta thalassemia with severe mutations in contrast to the Brazilian population with an absolute predominance of homozygous S. The study by Rigano (8) of 22 S/Beta thalassemia individuals showed a significant increase (p-value < 0.001) in Hb F and MCV after HU treatment, which increased from 73.1 fl to 96.4 fl (+ 23.3 fl) by the end of the study.…”

Section: Discussionmentioning

confidence: 99%

Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

Neves¹,

Neto²,

Polis³

et al. 2012

Revista Brasileira De Hematologia E Hemoterapia

View full text Add to dashboard Cite

Sickle cell anemia and the interaction S/Beta thalassemia differ in hematological values due to microcytosis and hypochromia caused by the thalassemic mutation. The clinical benefit of long-term hydroxyurea treatment is undeniable in sickle cell disease with monitoring of the biological action of the drug being by the complete blood count. The objective of this work is to compare changes in some of the erythrocytic indexes between S/Beta thalassemia and sickle cell anemia patients on long-term hydroxyurea treatment. Methods: The values of erythrocyte indexes (mean corpuscular volume and mean corpuscular hemoglobin) were compared in a retrospective study of two groups of patients (Sickle cell anemia and S/Beta thalassemia) on hydroxyurea treatment over a mean of six years. Results: The quantitative values of the two parameters differed between the groups. Increases in mean corpuscular volume and reductions in mean corpuscular hemoglobin delay longer in S/Beta thalassemia patients (p-value = 0.018). Conclusion: Hematological changes are some of the beneficial effects of hydroxyurea in sickle cell disease as cellular hydration increases and the hemoglobin S concentration is reduced. The complete blood count is the best test to monitor changes, but the interpretation of the results in S/Beta thalassemia should be different.

show abstract

“…Para finalizar, é curioso, mas não surpreendente nos dias de hoje, que a presença do traço falcêmico se fez também nos indivíduos classificados como derivados de europeus. Existem muitos fatores que influenciaram o fluxo gênico de caucasóide para negróides e vice-versa 39,40 . Entre eles, Salzano et al 39 citam (a) a incidência de grupos étnicos em regiões de contato, (b) cruzamento ao acaso, (c) fertilidade e mortalidade do híbrido/não-híbrido 39 .…”

Section: Grupo éTnicounclassified

Triagem de hemoglobinopatias em doadores de sangue de Caxias do Sul, Rio Grande do Sul, Brasil: prevalência em área de colonização italiana

Lisot

Silla

2004

Cad. Saúde Pública

View full text Add to dashboard Cite

The high prevalence of beta thalassemia among Italians and their participation in the ethnic formation of Caxias do Sul, Rio Grande do Sul State, Brazil, and neighboring cities prompted us to investigate hemoglobinopathies in 608 blood donors at the Caxias do Sul Regional Blood Center. Despite the ethnic influence, abnormal hemoglobin levels were found in only 1.81% of the donors (0.16% Hb AC, 0.99% Hb AS, and 0.66% Hb AH), similar to the levels observed in a study on qualitative disorders conducted in the rural area of Rio Grande do Sul. In our setting, the most commonly used screening tests for thalassemia, combined with DNA sequencing, were unable to detect quantitative hemoglobin synthesis disorders. This may be attributable to still-unknown genetic disorders, technical limitations, or simply to miscegenation.

show abstract

Mild clinical expression of S-<FONT FACE=Symbol>b</font> thalassemia in a Brazilian patient with the <FONT FACE=Symbol>b</font>+ IVS-I-6 (T<FONT FACE=Symbol>®</font>C) mutation

Cited by 3 publications

References 13 publications

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

Triagem de hemoglobinopatias em doadores de sangue de Caxias do Sul, Rio Grande do Sul, Brasil: prevalência em área de colonização italiana

Contact Info

Product

Resources

About