Comment on “Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia”

Gonçalves, Marilda Souza

doi:10.1016/j.bjhh.2014.07.018

Cited by 3 publications

(4 citation statements)

References 39 publications

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“…Contrary to some earlier reports that alpha thalassemia did not influence the clinical events in SCA, in this study, and in agreement with most published data on this subject, the presence of α‐thal was associated with higher rates of bone pain crisis compared to those without α‐thal. This finding is in keeping with that of Renoux et al, among children with SCA in France and other previous reports .…”

Section: Discussionsupporting

confidence: 87%

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Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Olatunya

Albuquerque

Adekile

et al. 2018

Clinical Laboratory Analysis

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Section: Discussionsupporting

confidence: 87%

“…Nigeria has the highest burden of SCA in the world . SCA is characterized by heterogeneous clinical phenotypes, and genetic modifiers play roles in the clinical presentation of the disease …”

Section: Introductionmentioning

confidence: 99%

Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Olatunya

Albuquerque

Adekile

et al. 2018

Clinical Laboratory Analysis

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“…Sickle cell anemia (SCA) is a monogenic disease, characterized by clinical heterogeneity [ 1 ]. The clinical diversity of SCA patients has been attributed to several factors, such as sociodemographic, socioeconomic, environmental, and genetic factors [ 2 , 3 ]. Fetal hemoglobin (HbF: α 2 γ 2 ) is a classic genetic modulator associated with a less-severe SCA outcome, and high concentration of HbF inhibits the polymerization of the hemoglobin variant S (HbS) by formation of asymmetric hybrids with gamma ( γ ) chain and β S chain ( α 2 γβ S ) that present high affinity for oxygen [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Sickle Cell Anemia Patients in Use of Hydroxyurea: Association between Polymorphisms in Genes Encoding Metabolizing Drug Enzymes and Laboratory Parameters

et al. 2018

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This study investigated associations between SNPs in genes encoding metabolizing drug enzymes and laboratory parameters in sickle cell anemia patients under hydroxyurea (SCA-HU+). We evaluated hematologic and biochemical parameters by electronic methods and SNPs by PCR-RFLP and multiplex PCR in 35 SCA-HU+ patients and 67 SCA-HU− patients. The HbS, total cholesterol, lactate dehydrogenase, aspartate aminotransferase, total bilirubin and fractions levels, and leukocyte, eosinophil, monocyte, and erythroblast counts were reduced in SCA-HU+ patients (p < 0.05). Moreover, they presented higher HbF, C-reactive protein, and ferritin levels and elevated MCH and MCV values (p < 0.05). Genotype frequencies of variants GA + AA of MPO −463G>A and c1c2 + c2c2 of CYP2E1 −1293G>C/−1053C>T were higher in SCA-HU+ patients (p < 0.05). Independent associations were found between the variant A allele and lower total cholesterol, between c2 allele and low alpha-1 antitrypsin and between the null GSTT1 variant and high indirect and total bilirubin in SCA-HU+ patients. In SCA-HU− patients, independent associations were found between the variant A allele and high uric acid and between c2 allele and high urea. Our results suggest that SNPs MPO −463G>A, CYP2E1 −1293G>C/−1053C>T, and GSTT1 can be associated with alterations in lipid, inflammatory, renal, hemolytic, and hepatic profiles. However, further studies are needed to elucidate these associations.

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“…Sickle cell anemia (SCA) is a severe hematological disease caused by the recessive autosomal inheritance of the beta (β) S globin gene that affects approximately 300,000 to 400,000 newborns worldwide each year [1][2][3]. SCA individuals present clinical heterogeneity, and those with a severe clinical profile, i.e, recurrent vaso-occlusion crises and acute chest syndrome, the occurrence of osteonecrosis and retinopathy, as well as stroke risk, are commonly indicated to use hydroxyurea (HU).…”

Section: Introductionmentioning

confidence: 99%

CAT -21A>T Variant Alters Hydroxyurea Pharmacokinetic Parameters in Brazilian Children with Sickle Cell Anemia

2022

Ann Case Report

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This study investigated the effects of the CAT -21A>T (rs7943316) variant on pharmacokinetic (PK) parameters in sickle cell anemia (SCA) children undergoing HU therapy. Plasma HU concentration of 12 SCA children was quantified using an HPLC/MS. Hematological and biochemical parameters were assessed by electronic methods, and polymorphisms were investigated by PCR-RFLP. The mean HU oral clearance was 40 ± 16 L/h, while HU Cmax and AUC0-inf were 9998.25 ± 4023.02 ng/mL and 22605.46 ± 10041.57 ng*h/mL, respectively. The heterozygote (CAT -21AT) genotype was found in 07 (58.33%) children, while the variant (CAT -21TT) genotype was found in 03 (25%) of them. Association analyses showed that children with the variant genotype had increased HU clearance and decreased HU Cmax, using codominant and recessive genetic models. Moreover, the multivariate linear regression analysis confirmed the associations between the variant CAT -21T allele in homozygous and HU clearance increase and Cmax decrease. In summary, data showed a lower HU plasma exposure in Brazilian SCA children. Interestingly, we observed the association of CAT -21A>T variant with alterations in crucial HU PK parameters, suggesting that it may be a potential genetic marker related to HU PK.

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Comment on “Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia”

Cited by 3 publications

References 39 publications

Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Sickle Cell Anemia Patients in Use of Hydroxyurea: Association between Polymorphisms in Genes Encoding Metabolizing Drug Enzymes and Laboratory Parameters

CAT -21A>T Variant Alters Hydroxyurea Pharmacokinetic Parameters in Brazilian Children with Sickle Cell Anemia

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