Purpose: To report a case of proliferative retinopathy with tractional retinal detachment associated with beta thalassemia minor in a 27-year-old female.
Observations: A young lady having beta thalassemia minor presented with decreased vision in both eyes, the effect being more severe in her right eye. The patient's other systemic history, including ophthalmic history, was unremarkable. The fundus examination revealed peripheral retinal ischemia in both eyes and tractional retinal detachment in the right eye.
Conclusion: Beta thalassemia minor is not associated with striking retinal pathology, nevertheless proliferative retinopathy. However, in this case the patient developed tractional retinal detachment that required surgery. This indicates that proliferative changes may develop in patients with beta thalassemia, and routine fundus examinations could be recommended for these patients.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630591 | PMC |
http://dx.doi.org/10.1016/j.ajoc.2023.101946 | DOI Listing |
Background: 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
Pediatric Hematology-Oncology Unit, Advanced Pediatrics Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
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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