Aim: This study was designed to evaluate the tear film in beta-thalassemia patients using tear ferning (TF) and phenol red thread (PRT) tests.
Methods: Forty beta-thalassemia patients, aged 18 - 38 years (25.7 ± 6.0 years), along with a control group of 40 age-matched subjects with healthy eyes completed the study. All subjects completed the ocular surface disease index (OSDI) first, followed by the TF and PRT tests with a 5-minute gap between the tests.
Results: Significant differences (Wilcoxon test, p < 0.05) were observed between the beta-thalassemia and control groups in all scores. Among beta-thalassemia patients, OSDI scores indicated eye dryness in 35 subjects (87.5%). PRT showed dryness in 31 subjects (77.5%) in the right and left eyes, and the TF grades were ≥ 2 for the tears collected from 35 subjects (87.5%). There was a strong correlation (r = 0.851, p = 0.001) between the PRT measurements in the right and left eyes. There was a medium correlation between OSDI and TF scores (r = 0.309, p = 0.026) and between OSDI and age (r = 0.365, p = 0.010). Age had a moderate negative correlation (r = - 0.328, p = 0.019) with the PRT obtained from the right eye.
Conclusion: Significant ocular dryness symptom was observed in beta-thalassemia patients, based on the scores collected from TF and PRT tests. Beta-thalassemia patients develop dry eyes, possibly due to several factors, including reduced tear secretion. Therefore, it is important to regularly evaluate both the quality and quantity of tears in patients with beta-thalassemia.
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http://dx.doi.org/10.1055/a-1353-5747 | DOI Listing |
Heliyon
January 2025
Department of Zoology, The University of Burdwan, West Bengal, India.
Thalassemia is a hematological disorder caused by mutations in the hemoglobin gene, often necessitating regular blood transfusions. These frequent transfusions exert continuous pressure on patients' immune systems. Despite extensive research on the hematological aspects of thalassemia, few studies have explored the immune status of these patients.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Hemoglobin
January 2025
Department of Biomedical and Science Therapeutic, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Malaysia.
Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β-deletion as the predominant mutation. Patients with the homozygous Filipino β-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, I-γ rs7482144, rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β-deletion patients in Sabah.
View Article and Find Full Text PDFAIMS Public Health
November 2024
Community health science, Aga Khan University Karachi, Pakistan.
Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. With improvements in management over the years, β-TM has transitioned from a fatal childhood disease to a chronic condition. However, in Pakistan, there is still a lack of a comprehensive national policy and strategic plan, which has resulted in a growing number of β-TM patients, placing a substantial burden on individuals and the national healthcare system.
View Article and Find Full Text PDFLancet Reg Health Southeast Asia
November 2024
Colombo North Teaching Hospital, Ragama, 11010, Sri Lanka.
Background: Many patients with β-thalassaemia die prematurely due to iron overload. In this study, we aim to evaluate the efficacy and safety of the triple combination of deferoxamine, deferasirox and deferiprone on iron chelation in patients with transfusion-dependent β-thalassaemia with very high iron overload.
Methods: This open-label, randomised, controlled clinical trial was conducted at Colombo North Teaching Hospital, Sri Lanka.
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