Frequencies of CD39, IVS1-1, IVS1-6 and IVS1-110 mutations in beta-thalassemia
            carriers and their influence on hematimetric indices

Gomes, Willian Robert; Santos, Raquel; Cominal, Juçara Gastaldi; Tavares, Cristiane F. F.

doi:10.5935/1676-2444.20170058

Cited by 3 publications

(4 citation statements)

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“…When the underlying molecular profile of β‐Tm is taken into account, we demonstrated a higher frequency (69.0%) of the mutation in Exon 2, C→T substitution at codon 39, leading to a β 0 phenotype. Several studies with Brazilian β‐Tm individuals showed that C→T in codon 39 was the main mutation present in the population in Southeast and South regions of Brazil 36‐38 . However, the frequency of codon 39 mutation in our study was higher than the previous studies that demonstrated 50.9% in South Brazilian, 36 44% 38 and 54.3% 37 in Southeast Brazilian β‐Tm.…”

Section: Discussioncontrasting

confidence: 90%

“…Several studies with Brazilian β‐Tm individuals showed that C→T in codon 39 was the main mutation present in the population in Southeast and South regions of Brazil 36‐38 . However, the frequency of codon 39 mutation in our study was higher than the previous studies that demonstrated 50.9% in South Brazilian, 36 44% 38 and 54.3% 37 in Southeast Brazilian β‐Tm. In turn, individuals from the Northeast region of Brazil present high frequency of IVS‐I‐6 (53.8%) and IVS‐I‐1 (38.5%) mutations and in these regions mutations in codon 39 represent only 3.5% 39 .…”

Section: Discussioncontrasting

confidence: 90%

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Serum folate and cytokines in heterozygous β‐thalassemia

Paniz

Lucena

Bertinato

et al. 2020

Int J Lab Hematology

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Introduction: Folate deficiency is commonly reported in β-thalassemia. Individuals heterozygous for β-thalassemia may have higher folate requirements than normal individuals. Objectives: To document the concentration of serum total folate and its forms in β-thalassemia heterozygote users (β-TmU) and nonusers (β-TmN) of 5 mg folic acid/d; to determine whether folic acid (FA) consumption from fortified foods allows beta-Tm patients, who do not take FA supplements, to meet their dietary folate requirements; and to investigate the association between higher serum unmetabolized folic acid (UMFA) and inflammatory cytokine concentrations. Methods: Serum total folate and forms were measured in 42 β-Tm (13 β-TmU and 29 β-TmN) and 84 healthy controls. The mononuclear leucocyte mRNA expression of relevant genes and their products and hematological profiles were determined. Results: β-TmU had higher serum total folate, 5-methyltetrahydrofolate, UMFA, and tetrahydrofolate (THF) compared with β-TmN. The β-TmN had lower serum total folate and THF than controls. Plasma total homocysteine (tHcy) was lower in β-TmU compared with both β-TmN and controls, while β-TmN had higher tHcy than controls. β-TmU had higher IL-8 than their controls while β-TmN had higher IL-6 and IL-8 than their controls. β-TmU have higher levels of serum total folate, 5-methyltetrahydrofolate, UMFA, and THF than controls. There was no association between UMFA concentrations and cytokine levels. Conclusions: Mandatory flour fortification with FA in Brazil may be insufficient for β-TmN, since they have higher tHcy and lower serum total folate than controls. Furthermore, β-TmN have higher IL-6 levels than β-TmU. UMFA was not associated with inflammatory cytokine levels.

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Section: Discussioncontrasting

confidence: 90%

Section: Discussioncontrasting

confidence: 90%

Serum folate and cytokines in heterozygous β‐thalassemia

Paniz

Lucena

Bertinato

et al. 2020

Int J Lab Hematology

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“…The majority of these mutations comprise single nucleotide substitutions, deletions or insertions leading to frame shift alteration (Thein et al , ; Cao & Galanello, ). In Brazil, the most frequently reported mutations are: CD39 (C → T), IVSI‐1 (G → A), IVSI‐6 (T → C) and IVSI‐110 (G → A) (Gomes et al , ). Although some mutations are described as directly related to BTM, patients carrying the same given mutation can develop different phenotypes of the disease.…”

mentioning

confidence: 99%

“…C) and IVSI-110 (G ? A) (Gomes et al, 2017). Although some mutations are described as directly related to BTM, patients carrying the same given mutation can develop different phenotypes of the disease.…”

mentioning

confidence: 99%

Global gene expression reveals an increase of HMGB1 and APEX1 proteins and their involvement in oxidative stress, apoptosis and inflammation pathways among beta‐thalassaemia intermedia and major phenotypes

et al. 2019

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Summary Beta‐thalassaemia (BT) is classified according to blood transfusion requirement as minor (BTMi), intermedia (BTI) and major (BTM). BTM is the most severe form, requiring regular transfusions while transfusion need is only occasional in BTI. Differential gene expression between patients has not been assessed so far. Here, we evaluated the global gene expression profiles during differentiation of human erythroid cells of two patients carrying the same mutation [CD39, (C → T)], though displaying different phenotypes (BTI and BTM). Considering the role of reactive oxygen species (ROS) in the pathophysiology of thalassaemia, we focused on differentially expressed genes involved in metabolic pathways triggered by ROS, such as inflammation and apoptosis, and, from these, we selected the Apurinic/Apyrimidinic Endodeoxyribonuclease 1 (APEX1) and High Mobility Group Box1 (HMGB1) genes, whose role in BT is not well established. An in‐depth expression analysis of transcriptional and protein levels in patients carrying a range of mutations associated with BT phenotypes indicated that APEX1 was increased in both BTI and BTM. Furthermore, higher amounts of HMGB1 was found in the plasma of BTI patients. Our findings suggest that these proteins have important roles in BT and could represent new targets for further studies aiming to improve the management of the disease.

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Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report

Naoum

2020

Hematology, Transfusion and Cell Therapy

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Frequencies of CD39, IVS1-1, IVS1-6 and IVS1-110 mutations in beta-thalassemia carriers and their influence on hematimetric indices

Cited by 3 publications

References 0 publications

Serum folate and cytokines in heterozygous β‐thalassemia

Serum folate and cytokines in heterozygous β‐thalassemia

Global gene expression reveals an increase of HMGB1 and APEX1 proteins and their involvement in oxidative stress, apoptosis and inflammation pathways among beta‐thalassaemia intermedia and major phenotypes

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report

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