61+ results for “Sickle cell disease”

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Sickle cell disease
Phenotype · HP:0001878 · 147 articles

Publications

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sickle cell disease “In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels.”
HBB “RESULTS: The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified.”
Matches:
sickle cell disease “Most patients had the homozygous sickle cell disease (HbSS) genotype (36 (87.8%)), and 30 (73.2%) were receiving hydroxyurea.”
sickle cell anemia “Introduction Acute chest syndrome (ACS) remains one of the most severe complications of pediatric sickle cell anemia (SCA) and a leading cause of Pediatric Intensive Care Unit (PICU) admission.”
Matches:
sickle cell disease “The normal hemoglobin pattern was most frequent (63.7%), followed by Sickle Cell Disease (SCD) (19.96%), Thalassemia trait (8.37%), and Sickle Cell Trait (SCT) (5.28%).”
thalassemia “The normal hemoglobin pattern was most frequent (63.7%), followed by Sickle Cell Disease (SCD) (19.96%), Thalassemia trait (8.37%), and Sickle Cell Trait (SCT) (5.28%).”
Matches:
sickle cell disease “The Role of Platelet-to-Neutrophil Ratio as a Biomarker for Pulmonary Hypertension in Sickle Cell Disease Patients: A Retrospective Cohort Study.”
hypertension “The Role of Platelet-to-Neutrophil Ratio as a Biomarker for Pulmonary Hypertension in Sickle Cell Disease Patients: A Retrospective Cohort Study.”
Matches:
sickle cell disease “BACKGROUND: Inherited hemoglobinopathies, particularly sickle cell disease (SCD) and thalassemia, represent a major public health burden in Saudi Arabia.”
thalassemia “BACKGROUND: Inherited hemoglobinopathies, particularly sickle cell disease (SCD) and thalassemia, represent a major public health burden in Saudi Arabia.”
Matches:
sickle cell disease “Gene therapy acceptance in a high-consanguinity sickle cell disease population: bridging genetic literacy to therapeutic innovation in Saudi Arabia.”
Saudi Arabia, Jazan “Gene therapy acceptance in a high-consanguinity sickle cell disease population: bridging genetic literacy to therapeutic innovation in Saudi Arabia. The Jazan region of Saudi Arabia has a high prevalence of sickle cell disease (SCD), compounded by consanguineous marriages. The Jazan region exemplifies a population that is markedly underrepresented in genomic medicine research, distinguished by distinctive sociocultural factors, including consanguinity rates surpassing one half. A cross-sectional online survey of 357 Jazan residents, including 104 individuals/families affected with SCD, assessed genetic literacy, clinical burden, and GT attitudes. Despite high genetic literacy (84.0% knew SCD inheritance; 72.5% were aware of consanguinity risks), only 45.4% were aware of GT. Among affected individuals, GT acceptance was independently predicted by awareness of consanguinity risk (OR, 3.51; 95% CI, 1.25-9.80) and personal SCD status (OR, 2.89; 95% CI, 1.08-7.74). Acceptance is strongly driven by an understanding of inheritance patterns, highlighting the need for genetic counseling that links consanguinity risks to therapeutic advances to facilitate equitable GT implementation.”
Matches:
sickle cell disease “Prevalence and Predictors of Priapism Among Patients with Sickle Cell Disease: A Cross-Sectional Study.”
Saudi Arabia, Eastern Province “Materials and Methods: This cross-sectional study was conducted at the Hereditary Blood Disorder Centre in the Eastern Province of Saudi Arabia from February 2024 to August 2025. Results: A total of 240 male SCD patients were included, of whom 33 (13.8%) reported a lifetime history of priapism.”
Matches:
sickle cell disease “Health-related quality of life among patients with sickle cell disease in the hereditary blood disease center in Saudi Arabia.”
Saudi Arabia “Health-related quality of life among patients with sickle cell disease in the hereditary blood disease center in Saudi Arabia. In Saudi Arabia, there is a lack of studies for the quality of life (QoL) of sickle cell disease (SCD) patients. The aim of this study was to assess patient-related QoL of patients with SCD for patients in the hereditary blood disease center in Saudi Arabia. A cross-sectional study designed to measure the health-related quality of life (HRQoL) of patients with SCD for patients in the hereditary blood disease center in Al-Hasa, Saudi Arabia between January and April 2023. A total of 305 patients were involved in this study.”
Matches:
sickle cell disease “Genomics-driven drug repurposing and novel targets identification for sickle cell disease in Saudi patients.”
OR51V1 “Furthermore, novel drug targets encoded by olfactory receptor (OR) gene clusters (OR51V1, OR52A1, OR52A5, OR51B5, and OR51S1), TRIM genes, SIDT2, and CADM3 displayed high druggability scores.”
Matches:
sickle cell disease “The Direct Medical Costs of Sickle Cell Disease in Saudi Arabia: Insights from a Single Center Study.”
stroke “It leads to various complications, including painful episodes, infections, delayed growth, stroke, and organ damage, which contribute to high healthcare utilization and costs.”

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