Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil

Alcoforado, Gustavo Henrique de Medeiros; Bezerra, Christiane Medeiros; Lemos, Telma Maria Araújo Moura; Oliveira, De; Kimura, Elza; Costa, Fernando Ferreira; Sonati, María de Fátima; Medeiros, Tereza Maria Dantas de

doi:10.1590/s1415-47572012005000049

Cited by 10 publications

(6 citation statements)

References 19 publications

(41 reference statements)

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“…For α-thalassemia, the most common deletion encountered in sub-Saharan Africa is a deletion of 3.7 kb (α −3.7 deletion) resulting in an α-globin synthesis defect [25]. The gene deletion of 3.7 kb was detected by multiplex PCR with a method adapted from Liu et al [34] and according to the GoTaqFlexi DNA Polymerase (Promega) requirements.…”

Section: Methodsmentioning

confidence: 99%

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Impact of Hemoglobin S Trait on Cell Surface Antibody Recognition of Plasmodium falciparum-Infected Erythrocytes in Pregnancy-Associated Malaria

Chauvet

Tétard

Cottrell

et al. 2019

Open Forum Infectious Diseases

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Background Sickle cell trait (HbAS) confers partial protection against malaria by reducing the adhesion of Plasmodium falciparum -infected erythrocytes to host receptors, but little is known about its potential protection against placental malaria. Methods Using flow cytometry, we assessed the recognition of HbAA and HbAS VAR2CSA-expressing infected erythrocytes, by plasma from 159 Beninese pregnant women with either HbAA (normal) or HbAS. Using multivariate linear models adjusted for gravidity, parasite infection at delivery, glucose-6-phosphate dehydrogenase deficiency, and α-thalassemia carriage, we observed significantly reduced cell surface antibody binding of HbAS-infected erythrocytes by plasma from HbAS compared with HbAA women ( P < 10 –3 ). Results The difference in cell surface antibody binding was only observed when infected erythrocytes and plasma were associated according to the same hemoglobin genotype. Similar levels of VAR2CSA-specific antibody were measured by enzyme-linked immunosorbent assay in the 2 groups, suggesting that the altered interaction between VAR2CSA and HbAS women’s antibodies could reflect abnormal display of VAR2CSA on HbAS erythrocytes. Conclusions Our data stress the need for assessments of erythrocyte disorders such as the sickle cell trait in a population group when studying immunological responses to P falciparum .

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Section: Methodsmentioning

confidence: 99%

“…The most common deletion encountered in sub-Saharan Africa is a deletion of 3.7 kb (α −3.7 deletion). The heterozygous carriage of this deletion (α −3.7 thalassemia trait) is not or only slightly symptomatic, but homozygous deletion can cause hematological alterations or be lethal [25].…”

mentioning

confidence: 99%

Impact of Hemoglobin S Trait on Cell Surface Antibody Recognition of Plasmodium falciparum-Infected Erythrocytes in Pregnancy-Associated Malaria

Chauvet

Tétard

Cottrell

et al. 2019

Open Forum Infectious Diseases

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“…In particular, in southeastern Brazil, a frequency of 1.3% of b-thalassemia trait carriers (BTC) was reported in the general population (10), while a-thalassemia trait carriers (ATC), determined by a 3.7-kb DNA deletion (-a 3.7 /aa), varied from 20 to 25% in Brazil's African descents (11) and 9 to 12% in general population. Previous studies have shown that the -a 3.7 is the most frequent a-globin gene deletion in Brazil (12)(13)(14)(15).…”

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confidence: 99%

Altered erythropoiesis and iron metabolism in carriers of thalassemia

Guimarães

Cominal

Silva-Pinto

et al. 2014

European J of Haematology

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The thalassemia syndromes (α- and β-thalassemia) are the most common and frequent disorders associated with ineffective erythropoiesis. Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia and more erythroid progenitors in the blood stream. While patients affected by these disorders show definitive altered parameters related to erythropoiesis, the relationship between the degree of anemia, altered erythropoiesis and dysfunctional iron metabolism have not been investigated in both α-thalassemia carriers (ATC) and β-thalassemia carriers (BTC). Here we demonstrate that ATC have a significantly reduced hepcidin and increased soluble transferrin receptor levels but relatively normal hematological findings. In contrast, BTC have several hematological parameters significantly different from controls, including increased soluble transferrin receptor and erythropoietin levels. These changings in both groups suggest an altered balance between erythropoiesis and iron metabolism. The index sTfR/log ferrin and (hepcidin/ferritin)/sTfR are respectively increased and reduced relative to controls, proportional to the severity of each thalassemia group. In conclusion, we showed in this study, for the first time in the literature, that thalassemia carriers have altered iron metabolism and erythropoiesis.

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“…α-Thalassemia is estimated to affect around 5% of the population worldwide, with the -α 3.7 deletion being the most common alteration ( Piel and Weatherall, 2014 ). In Brazil, its prevalence is high ( Sonati et al , 1991 ; Couto et al , 2003 ; Adorno et al , 2005 ; Wagner et al , 2010 ; Cardoso et al , 2012 ; De Medeiros Alcoforado et al , 2012 ). However, Hb H disease, which is found primarily in Southeast Asia, the Middle East and the Mediterranean, has only rarely been reported in Brazil, where most cases are the result of an interaction of the -α 3.7 deletion with the -- MED , -(α) 20.5 , or -- SEA deletions ( Sonati et al , 1992 ; Wenning et al , 2000 , 2002 , 2009 ; Kimura et al , 2009 ).…”

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confidence: 99%

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

et al. 2017

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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 addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

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Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil

Cited by 10 publications

References 19 publications

Impact of Hemoglobin S Trait on Cell Surface Antibody Recognition of Plasmodium falciparum-Infected Erythrocytes in Pregnancy-Associated Malaria

Impact of Hemoglobin S Trait on Cell Surface Antibody Recognition of Plasmodium falciparum-Infected Erythrocytes in Pregnancy-Associated Malaria

Altered erythropoiesis and iron metabolism in carriers of thalassemia

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

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