An analytical study of sickle cell anemia incidence in the tribal population of eastern Gujarat

Journal of Family Medicine and Primary Care, Journal Year: 2025, Volume and Issue: 14(3), P. 1024 - 1028

Published: March 1, 2025

This study explored sickle cell disease (SCD) in the tribal population of Eastern Gujarat, India. The objectives included determining incidence and gender-wise distribution SCD cases. A hospital-based analytical was conducted with 600 participants. Data were gathered from medical records between June 1 27, 2019. Ethical approval participant consent obtained. patients diagnosed excluded those who had undergone surgery, females their menstrual cycle, or non-SCD patients. analysis performed using SPSS 22.0 software. highest observed males aged 10 years-20 years 21 years-30 years. In whole population, 25.67%. Significant differences (P < 0.05) found male female red blood (RBC) count, hemoglobin (Hb) levels, white (WBC) mean corpuscular volume (MCV), (MCH), packed (PCV). showed lower RBC Hb concentration, PCV, indices but higher WBC counts. gender noted several parameters. Due to limitations data recording, mortality could not be thoroughly assessed. indicates that malnutrition, stemming poverty, is a concern, balanced diets are essential for reducing morbidity SCD.

Language: Английский

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Dysregulation of Iron Homeostasis in β-Thalassemia and Impaired Neutrophil Activity

Thalassemia Reports, Journal Year: 2025, Volume and Issue: 15(2), P. 4 - 4

Published: April 25, 2025

Background/Objective: Patients with beta-thalassemia are more susceptible to iron overload and have altered neutrophil function. This study investigated the connections between metabolism in neutrophils, functionality, overall status individuals β-thalassemia sickle cell anemia. Methods: We recruited 18 patients β-thalassemia, 5 anemia, 15 healthy controls. Our evaluation included measurements of hepcidin concentrations serum, along an analysis function, specifically their phagocytic oxidative burst capabilities. In addition, we examined expression transport proteins neutrophils. Results: showed significant overload, reduced counts, decreased activity phagocytosis. Systemic is inversely correlated capacity Regression indicated a association serum level, transferrin binding capacity, saturation, percentage. These findings elucidate essential role systemic levels efficacy against infections. Furthermore, FPN1B DMT1A mRNA were upregulated, IRP2 was downregulated neutrophils major intermedia compared Conclusions: Elevated associated counts impaired function β-thalassemia. highlight critical dysfunction.

Language: Английский

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The Prevalence and Distribution of Beta Thalassemia Trait among Outpatient Individuals in A Tertiary Care Hospital of Lodhran, Pakistan

Pakistan Journal of Health Sciences, Journal Year: 2024, Volume and Issue: unknown, P. 191 - 196

Published: Nov. 30, 2024

Thalassemia is an autosomal recessive genetic disorder characterized by impaired synthesis of hemoglobin due to mutations affecting the production alpha (α) or beta (β) globin chains. This imbalance causes ineffective erythropoiesis, microcytic anemia, and hematological abnormalities. Objectives: To assess prevalence distribution β-thalassemia carriers for implementing targeted screening preventive strategies. Methods: retrospective observational study analyzed 108 samples from patients who were suspected a complete blood count parameter; which included Mean Corpuscular Volume, Hemoglobin, total red cell count. After that analysis patients’ Hb A2 through Electrophoresis thalassemia trait was carried out. The data sourced Shahida Islam Medical College Hospital, reflecting carrier status participants. Results: findings are distributed between 62 male 46 female demonstrated presence across various age groups (mean 25) found typically higher (52.8%) in 21 30 years. Specifically, 68 out tested positive having raised level on electrophoresis. Conclusions: It concluded widespread diverse ethnic groups. highlights necessity standardized testing protocols screening. Implementing comprehensive programs, coupled with enhanced public awareness educational campaigns, crucial mitigate incidence major. These measures essential populations prevent transmission this abnormality.

Language: Английский

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A perspective on the genesis, diagnostics, and management of sickle cell disease

Egyptian Journal of Medical Human Genetics, Journal Year: 2024, Volume and Issue: 25(1)

Published: Dec. 17, 2024

Abstract Background Hemoglobinopathies, including sickle cell disease (SCD), have been recognized as a major health problem globally. SCD is caused by mutation in the GAG codon that converts glutamate to valine, resulting hemoglobin (HbS) and various clinical symptoms. Main body An estimated 300,000 new-borns are diagnosed with every year which makes it very important manifestation study. The present review aims comprehensively explore pathophysiology, diagnostics, management approaches for populations affected disease. Different genetic forms of SCDs also mentioned this review. Short conclusion HbS polymerization contributes overall pathophysiological process SCD. Several treatment options available, though US Food Drug Administration-approved low-toxicity medication hydroxyurea commonly used treat complications. Besides, hemopoietic stem transplantation gene therapy two potential curative approaches. For management, counseling neonatal screening at different stages play crucial role.

Language: Английский

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