Association between beta globin haplotypes, HBBP1 and HMOX1 polymorphisms in relation to HbF among sickle cell anemia patients: a study in Southwest Iran

In this study, rs2071348 and rs2071746 polymorphisms in HBBP1 and heme oxygenase 1 (HMOX1) genes associated with different haplotypes and HbF levels in patients with sickle cell anemia were evaluated in comparison with healthy subjects. In this case-control study, 150 patients with sickle cell anemi a (90 homozygous and 60 sickle-cell trait) were evaluated and compared with 50 healthy individuals referred to Shafa tertiary hospital in Ahvaz city of Khuzestan Province, Iran. HbF level was measured by alkali and acid electrophoresis. PCR-RFLP and ARMS-PCR methods were used to determine β-globin gene haplotypes and HBBP1 gene polymorphism, respectively. Arab-Indian was the most common genotype found in both homozygous and sickle-cell trait patients with a respective prevalence of 55.5 and 50% followed by homozygous Benin with 11.1 and 18.3% prevalence, respectively. The highest and lowest l evel of HbF were observed in Arab-Indian (24.1 ± 6.35) and Benin/Benin haplotypes (7.63 ± 2.29), respectively. A significant relationship was found between HbF level with rs2071746 A>T polymorphism of HMOX1 gene (P 
Source: Comparative Clinical Pathology - Category: Pathology Source Type: research

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Evidence of kidney damage is observed in children with sickle cell anaemia (SCA) and this continues through adulthood with progression to severe functional impairment in some. One of the earliest features of k...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Research Source Type: research
The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and β-thalassemia (β-TT) suspected sample from tharu community of South Wester...
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research
We report a novel case in which hydroxyurea hyperpigmentation is associated with iron deposition.
Source: Dermatology Online Journal - Category: Dermatology Source Type: research
Background: Micronutrient deficiency is recognized in sickle cell anaemia (SCA) but it is not known for certain whether changes in zinc, copper and copper-to-zinc ratio are associated with Sickle cell disease severity scores.Objective: To compare serum levels of copper, zinc and copper-to-zinc ratio in SCA subjects with control group and correlate the variables with objective disease severity scores.Methods: Serum copper and zinc were determined in 100 SCA patients and 50 controls using kits supplied by Centronic, Germany. Unpaired Students ’t-test was used to compare the variables between SCA patients in steady clin...
Source: African Health Sciences - Category: African Health Source Type: research
Publication date: Available online 2 November 2019Source: Nitric OxideAuthor(s): Luis E.F. Almeida, Sayuri Kamimura, Celia M. de Souza Batista, Nicholas Spornick, Margaret Y. Nettleton, Elizabeth Walek, Meghann L. Smith, Julia Finkel, Deepika Darbari, Paul Wakim, Zenaide M.N. QuezadoAbstractThe hypothesis of decreased nitric oxide (NO) bioavailability in sickle cell disease (SCD) proposes that multiple factors leading to decreased NO production and increased consumption contributes to vaso-occlusion, pulmonary hypertension, and pain. The anion nitrite is central to NO physiology as it is an end product of NO metabolism and...
Source: Nitric Oxide - Category: Chemistry Source Type: research
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Source: Mediterranean Journal of Hematology and Infectious Diseases - Category: Hematology Source Type: research
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Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
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Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Research article Source Type: research
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Source: Disease Markers - Category: Laboratory Medicine Tags: Dis Markers Source Type: research
Abstract *_. PMID: 31649130 [PubMed - as supplied by publisher]
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
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