Beta-Globin Haplotypes and Alpha-Thalassemia 3.7 kb Deletion in Sickle Cell Disease Patients From the Occidental Brazilian Amazon

Carneiro, Janaina Santana; Gonçalves, Marilda de Souza; Albuquerque, Sérgio Roberto Lopes; Fraiji, Nelson Abrahim; Neto, José Pereira de Moura

doi:10.14740/jh310w

Cited by 3 publications

(4 citation statements)

References 30 publications

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“…In comparison, patients with SC and Sβ+ presented milder hematological alterations. Previous published data for this same population present similar data (CARNEIRO et al, 2017;CESAR et al, 2019).…”

Section: )supporting

confidence: 84%

“…In our study, the average age of 12.09 years for the first diagnosis in these patients may also be due to the geographical characteristics of the state of Amazonas, which, due to the great distance between the municipalities, may hinder access to specialized health services (ANSELMO et al, 2021). Similar findings about late diagnosis in Sβ+ patients reinforce the idea that early diagnosis, regular medical followup and treatment can minimize complications, thus improving the quality of life of these patients (CARNEIRO et al, 2017. Interestingly, the SC group had the lowest mean HbF and, due to this, we believe that these patients could have a high frequency of some complications.…”

Section: )supporting

confidence: 75%

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NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Xerez Albuquerque,

Pinto Luciano,

Andreola Silva

et al. 2023

PRW

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Clinical manifestations are highly variable in sickle cell disease (SCD) and polymorphisms (SNP) may modify vascular homeostasis. Because of this, we investigated of SNP of NOS3, ET1, TGF-β1 and THBS1 genes in vascular complications of SCD. High risk of hospitalization was found for genotypes NOS3TC/CC (rs2070744 - RR: 1.94) and THBS1AG/GG (rs1478604 - RR: 1.59) while low risk to NOS3GT/TT (rs1799983 - RR: 0.53). Hydroxyurea treatment was more frequent in the genotypes NOS3TC/CC (rs2070744 - RR: 1.83), ET1GT/TT (rs5370 - RR: 2.67) and ET1TG/GG (rs1800541 - RR: 1.43). Alleles ET1TG/GG (rs1800541) showed correlation for abdominal, arm and leg pain, bone disorders, cholelithiasis and vaso-occlusive crisis, while ET1GT/TT (rs5370) with chest pain, painful episodes, splenic sequestration and stroke. Interestingly, the NOS3GT/TT (rs1799983) alleles had a high stroke risk (RR:4.21), though, protection against bone disorders, cholelithiasis and less risk of hospitalization. We believed that our results indicate polymorphisms that may provide benefits in the treating Clinical Complications in SCD Patients, especially in vascular SCD pathophysiology, modulating vaso-occlusion crisis.

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Section: )supporting

confidence: 84%

Section: )supporting

confidence: 75%

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Xerez Albuquerque,

Pinto Luciano,

Andreola Silva

et al. 2023

PRW

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“…e α-thalassemia alleles frequency found from the random blood donors' samples is similar to that estimated in other studies from Brazilian population (average among 2.5-8%). Our study showed lower α-thalassemia frequency when compared to 14.89% reported in the Uberaba Regional Blood Center's (Hemominas Foundation, Uberaba, Brazil) work, with all cases being heterozygous for the -α 3.7 deletion [21][22][23].…”

Section: Resultscontrasting

confidence: 56%

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

Anselmo

Ferreira

Mota

et al. 2020

Advances in Hematology

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Alpha-thalassemia is highly prevalent in the plural society of Brazil and is a public health problem. There is limited knowledge on its accurate frequency and distribution in the Amazon region. Knowing the frequency of thalassemia and the prevalence of responsible mutations is, therefore, an important step in the understanding and control program. Hematological and molecular data, in addition to serum iron and serum ferritin, from 989 unrelated first-time blood donors from Amazonas Hemotherapy and Hematology Foundation (FHEMOAM) were collected. In this study, the subjects were screened for −α3.7/4.2/20.5, −SEA, −FIL, and −MED deletions. Alpha-thalassemia screening was carried out between 2016 and 2017 among 714 (72.1%) male and 275 (27.9%) female donors. The aims of this analysis were to describe the distribution of various alpha-thalassemia alleles by gender, along with their genotypic interactions, and to illustrate the hematological changes associated with each phenotype. Amongst the patients, 5.35% (n = 53) were diagnosed with deletion –α−3.7 and only one donor with α−4.2 deletion. From the individuals with –α−3.7, 85.8% (n = 46) were heterozygous and 14.20% (n = 7) were homozygous. The frequency of the –α−3.7 deletion was higher in male (5.89%) than in female (4.0%). There is no significant difference in the distribution of –α−3.7 by gender (p=0.217). The –α20.5, −SEA, and −MED deletions were not found. All subjects were analyzed for serum iron and serum ferritin, with 1.04% being iron deficient (n = 5) and none with very high levels of stored iron (>220 µg/dL). Alpha-thalassemia-23.7kb deletion was the most common allele detected in Manaus blood donors, which is a consistent result, once it is the most common type of α-thalassemia found throughout the world. As expected, the mean of hematological data was significantly lower in alpha-thalassemia carriers (p<0.001), mainly homozygous genotype. Leukocytes and platelet count did not differ significantly. Due to the small number of individuals with iron deficiency found among blood donors, the differential diagnosis between the two types of anemia was not possible, even because minor changes were found among hematological parameters with iron deficiency and α-thalassemia. Despite this, the study showed the values of hematological parameters, especially MCV and MCH, are lower in donors with iron deficiency, especially when associated with α-thalassemia, and therefore, it may be useful to discriminate different types of microcytic anaemia. In conclusion, we believed screening for thalassemia trait should be included as part of a standard blood testing before blood donation. It should be noted that this was the first study to perform the screening for alpha deletions in blood donors from the Manaus region, and further studies are required to look at the effects of donated thalassemic blood.

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“…Sickle cell diseases encompass a group of disease that affect hemoglobin quality that are inherited in different genotypes (Carneiro et al, 2016.;Bernarde et al, 2021). In these diseases, the concentration of hemoglobin S (HbS is more than 50%).…”

Section: Introductionmentioning

confidence: 99%

Impact of temporary and involuntary suppression of hydroxyurea treatment on hematological and clinical parameters in patients with sickle cell disease

Arcanjo,

Bringel,

Costa

et al. 2024

RSD

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Objective: Here we investigate the impact of involuntary and temporary interruption of hydroxyurea (HU) treatment in patients with Sickle Cell Disease (SCD). Methods: Clinical and hematological parameters were explored in 30 patients with SCD under treatment with HU. The study was performed in two different periods: 1 - During nine months of involuntary discontinuation (April/2015 to January/2016) and 2 – During nine months after resumption of the treatment (March/2016 to December/2016). Results: The resumption of HU treatment improved the hematological parameters, by increasing levels of hemoglobin (+0.65±0.71), hematocrit (+1.16±2.26), mean corpuscular volume (+8.33±5.89), mean corpuscular hemoglobin (+3.15±2.65). There was a reduction in red blood cell distribution width (-0.66±1.69), reticulocytes (-2.53±1.96), leukocytes (-1122±2764) and platelets numbers (-79.933±162.756). These was followed by a reduction in hospital admissions (-0.30±0.79) and in the number of pain episodes (-0.97±1.19), whereas the denial in episodes of pain crisis increased (+1.43±1.43). After resumption, in period 2, hemoglobin levels were inversely correlated with blood transfusion numbers (p=0.034) and acute thoracic syndrome (p=0.017). The hematocrit was inversely correlated with the number of consultations (p=0.030) and the number of times patients denied crisis (p=0.002). Conclusions: Our study shows that the treatment with HU improves clinical and haematological parameters in patients and highlights the negative effects of the discontinuation of the treatment in the quality of life in patients with SCD.

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Beta-Globin Haplotypes and Alpha-Thalassemia 3.7 kb Deletion in Sickle Cell Disease Patients From the Occidental Brazilian Amazon

Cited by 3 publications

References 30 publications

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

NOS3, ET1, TGF-β1, and THBS1 polymorphisms modulating clinical complications in sickle cell disease patients

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

Impact of temporary and involuntary suppression of hydroxyurea treatment on hematological and clinical parameters in patients with sickle cell disease

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