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

2016 ◽  
Vol 5 (4) ◽  
pp. 123-128 ◽  
Author(s):  
Janaina Santana Carneiro ◽  
Marilda de Souza Goncalves ◽  
Sergio Roberto Lopes Albuquerque ◽  
Nelson Abrahim Fraiji ◽  
Jose Pereira de Moura Neto
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Brazilian Amazon ◽  
Beta Globin ◽  
Cell Disease ◽  
Alpha Thalassemia

scholarly journals Internal Carotid Artery Septa in Sickle Cell Disease: Risk Factor for Stroke?

2008 ◽  
Vol 35 (3) ◽  
pp. 378-380
Author(s):  
Pranshu Sharma ◽  
Mayank Goyal ◽  
Ali M. Al-Khathaami ◽  
Andrew Demchuk
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Blood Cells ◽  
Internal Carotid ◽  
Disease Risk ◽  
Beta Globin ◽  
Cell Disease ◽  
Cerebral Infarcts ◽  
Disease Risk Factor ◽  
Hemoglobin Molecule

Sickle cell disease is a hemoglobinopathy occurring due to replacement of valine for glutamic acid at the sixth position of the beta globin chain. The altered hemoglobin structure makes it prone for polymerization during hypoxic and infective stress. Polymerization of the hemoglobin molecule leads to sickling of the red blood cells in the vessels causing thrombosisvasoocclusive crises. Although abdomen and extremities are more often involved, silent cerebral infarcts and stroke can occur in up to 25-29% of patients and is the major cause of morbidity and mortality.

Beta-Globin Gene Cluster Haplotypes in Yemeni Children with Sickle Cell Disease

2010 ◽  
Vol 123 (3) ◽  
pp. 182-185 ◽  
Author(s):  
Abdul-Wahab M. Al-Saqladi ◽  
Bernard J. Brabin ◽  
Hassan A. Bin-Gadeem ◽  
Warsha A. Kanhai ◽  
Marion Phylipsen ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Gene Cluster ◽  
Sickle Cell ◽  
Globin Gene ◽  
Beta Globin ◽  
Cell Disease ◽  
Beta Globin Gene ◽  
Globin Gene Cluster

scholarly journals Sickle Cell Disease: Role of Oxidative Stress and Antioxidant Therapy

2020 ◽  
Author(s):  
Rosa Vona ◽  
Nadia Maria Sposi ◽  
Lorenza Mattia ◽  
Lucrezia Gambardella ◽  
Elisabetta Straface ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Metabolism ◽  
Globin Gene ◽  
Organ Damage ◽  
Beta Globin ◽  
Cell Disease ◽  
Vessel Occlusion ◽  
Antioxidant Agents

Sickle cell disease (SCD) is the most common hereditary disorder of hemoglobin (Hb) that affects approximately a millions people worldwide. It is characterized by a single nucleotide substitution on the β-globin gene, leading to the production of abnormal sickle hemoglobin with multi-system consequences. Mutated Hb leads to profound changes in: i) red blood cell metabolism and physiology; ii) endothelial signaling; and iii) immune response. Oxidative stress is an important hallmark of SCD. It plays a key role in the pathophysiology of hemolysis, vessel occlusion and the following organ damage in sickle cell patients. For this reason, reactive oxidizing species and the (end)-products of their oxidative reactions have been proposed as markers of both tissue pro-oxidant status and disease severity. Although more studies are needed to clarify their role, antioxidant agents have been shown to be effective in reducing pathological consequences of the disease by preventing oxidative damage in SCD, i.e. by decreasing the oxidant formation or repairing the induced damage. An improved understanding of oxidative stress will lead to targeted antioxidant therapies that should prevent or delay the development of organ complications in this patient population.

scholarly journals Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease

1999 ◽  
Vol 5 (6) ◽  
pp. 1254-1258
Author(s):  
M. A. El Hazmi ◽  
A. S. Warsy ◽  
N. Bashir ◽  
A. Beshlawi ◽  
I. R. Hussain
Keyword(s):  
Saudi Arabia ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Clinical Presentation ◽  
Globin Gene ◽  
Beta Globin ◽  
Cell Disease ◽  
Beta Globin Gene ◽  
The North ◽  
Cell Gene

Wecollaborated with researchers from Egypt, Syrian Arab Republic and Jordan in a study of patients with sickle-cell disease from those countries, and from various parts of Saudi Arabia, in order to investigate the influence of genetics on the clinical presentation of the disease, and to attempt to determine the origin of the sickle-cell gene in Arabs. Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there are at least two major foci for the origin of the sickle-cell gene, one in the eastern part of Saudi Arabia, and the other in the populations of North Africa and the north-western part of the Arabian peninsula

scholarly journals The Optimal Cut-Off Level for Hemoglobin A2 to Differentiate between Sickle Cell Disease Genotypes

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 2391-2391 ◽  
Author(s):  
Fayiz Al Shueili ◽  
Murtadha K. Al-Khabori ◽  
Salam Al-Kindi ◽  
Yasser Wali ◽  
Shoaib Al-Zadjali
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Roc Analysis ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
R Program ◽  
Alpha Thalassemia ◽  
Thalassemia Trait ◽  
Hemoglobin A2 ◽  
Rbc Count

Abstract Objectives: Hemoglobin A2 (HbA2) is elevated in the presence of beta thalassemia trait and it is used as an indicator of its presence. High-Performance Liquid Chromatography (HPLC) overestimates HbA2 in patients with Sickle Cell Disease (SCD) due to the co-elution of HbS in HbA2 column. The optimal cut-off level of HbA2 to indicate the presence of beta thalassemia trait has not been well established in patients with SCD. We aim to define the optimal cut-off level of HbA2 to differentiate between SS and S/Beta SCD genotype variants. Methods: In this cross-sectional study, we included 241 patients with SCD who have either SS or S/Beta genotype based on their HPLC and the Sickledex test®. The diagnoses were confirmed by the direct sequencing of PCR amplified products of all exons, exon-intron junctions and promoter region of the beta globin gene. We retrieved the following clinical and laboratory variables from the electronic health records: age, gender, Hemoglobin (Hb), Mean Corpuscular Volume (MCV), Red Blood Cell (RBC) count and HbA2. We used the receiver operating curve (ROC) analysis to obtain the optimal cut-off level of HbA2 using the maximum sensitivity and specificity (Youden criteria). All descriptive and analytical statistics were performed using R program. The ROC analysis was performed with the "OptimalCutpoints" package available in R program. Results: Among the 241 patients included in the analysis, SS and S/Bthal patients were 81% and 19% respectively. Male to female ratio was 126:115. Fifty-two percent were using hydroxyurea. The median HbA2 level was 4.5% (Range: 0.0-6.5) in the SS group and 6.5% (Range: 3.5-8.2) in the S/Bthal group. The median Hb, MCV and RBC count was 9.4 g/dL (Range: 5.3 - 15.0), 75 fL (55 - 111) and 3.8 *1012/L (1.9 - 6.3) respectively for the SS group; while it was 9.7 g/dL (6.6 - 12.3), 68 fL (57 - 86) and 4.2 *1012/L (2.5 - 5.4) respectively for the S/Bthal group. The optimal cut-off level for HbA2 was estimated to be 5.7% using a sensitivity of 91% and a specificity of 92%. The positive and negative predictive values were 75% and 98% respectively. The discrimination estimated using the Area Under the Curve (AUC) was 0.936 (95% Confidence Interval: 0.878-0.994). Conclusions: The optimal cut-off HbA2 level to differentiate SCD with the S/Bthal genotype from the SS genotype is 5.7% with a high sensitivity, specificity and discrimination. The unexpected overlap in the MCV and the RBC count is likely related to the high rate of Alpha thalassemia trait in the analyzed population. Incorporation of the presence of alpha thalassemia trait in the analysis may improve the discrimination of MCV and RBC count. Disclosures No relevant conflicts of interest to declare.

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