Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on ß-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Hematological parameters and clinical characteristics were evaluated according to transfusion dependence. The proportions and absolute concentrations of HbF were found to be higher in non-transfusion-dependent (NTD) patients than in transfusion-dependent (TD) ones. Iron parameters were found to be higher in TD patients. The SNPs that were evaluated included the XmnI-158 polymorphism in the HBG gene and SNPs in the BCL11A and HMIP loci. It was noted that individuals homozygous or heterozygous for the effect allele in the BCL11A and HMIP SNPs had higher HbF levels, lower ferritin concentrations, and lower liver iron content and were less likely to be transfusion dependent. Our results showed that HbF production variants may have an important impact on the severity of ß-thalassemia, which might provide a severity prediction tool that can help in the anticipation of patients' phenotypes and therefore in future therapeutic decision making.

Hepatocellular Carcinoma in a ß-Thalassemia Intermedia Patient: Yet Another Case in the Expanding Epidemic.

The incidence of hepatocellular carcinoma (HCC) in patients with thalassemia is increasing, the two well recognized HCC risk factors in thalassemia being iron overload and chronic hepatitis C. The carcinogenicity of iron is related to its induction of oxidative damage, whereas chronic hepatitis leads to necroinflammation that can accelerate progression to HCC. We hereby report the case of a non transfused, hepatitis C-negative, ß-thalassemia intermedia (ß-TI) patient from our practice who had evidence of significant iron overload, suggesting the importance of increased iron burden as a HCC risk factor in this patient population. As such, screening thalassemia patients using magnetic resonance imaging (MRI)-based liver iron concentration (LIC) measurement and liver ultrasound is strongly recommended for early detection of iron overload and HCC, respectively. Data appears to be lacking on HCC treatment outcomes in patients who have thalassemia, but an approach tailored to each patient's comorbidities is key to treatment success. The prognosis of these patients can be improved by multicenter studies investigating novel HCC therapeutic targets in the thalassemia realm.

Hepatocellular carcinoma as an emerging morbidity in the thalassemia syndromes: A comprehensive review.

The incidence of hepatocellular carcinoma (HCC) in patients with thalassemia is on the rise. The 2 well recognized HCC risk factors in thalassemia are iron overload and chronic viral infection with hepatitis C. The carcinogenicity of iron is related to its induction of oxidative damage, which results in genotoxicity, and to immunologic dysregulation, which attenuates cancer immune surveillance. Chronic hepatitis B and C infections lead to necroinflammation, which can prompt progression to HCC, but an independent role of hepatitis B virus in hepatic carcinogenesis among patients with thalassemia has not been demonstrated. Screening patients who have thalassemia using magnetic resonance imaging-based liver iron concentration measurement and liver ultrasound is recommended for early detection of iron overload and HCC, respectively. Prevention primarily resides in hepatitis B vaccination, donor blood screening, hepatitis treatment, and iron chelation. Although solid data is lacking on the outcomes of HCC treatment in patients with thalassemia, a personalized approach tailored to the individual patient's comorbidities remains necessary for treatment success. Treatment modalities for HCC include surgical resection, chemoembolization, and liver transplantation, among others. Multicenter studies are needed to better explore therapeutic targets that can improve the prognosis of these patients. Cancer 2017;123:751-58. © 2016 American Cancer Society.

Effect of the COVID-19 Lockdown on Myopia Progression of School-aged Children: A Retrospective Chart Review.

PURPOSE: To study the effect of the coronavirus disease 2019 (COVID-19)-related lockdown on myopia progression of school-aged children, comparing across the years and within different age groups. METHODS: This was a retrospective chart review of school-aged children with myopia who presented to the pediatric ophthalmology clinic at the American University of Beirut between January 2020 and December 2021 (during COVID-19 lockdown). Annual myopia progression rate (back to January 2016) was computed by dividing the absolute value of the spherical equivalent (SE) difference of two consecutive visits by the duration (in years). Demographic data were retrieved. Patients were then divided into three age groups (3 to 10, 11 to 14, and 15 to 18 years) for analysis. RESULTS: A total of 443 charts of myopic school-aged children were reviewed. Their average age was 11.81 ± 3.67 years with an average of 3.85 ± 1.67 visits across the years. The mean myopic SE increased over time: SE in 2021 was significantly higher than the mean SE in 2016, 2017, 2018, and 2019. Mean SE in 2020 was significantly higher than that in 2016 and 2017. There was no statistically significant difference in the mean annual progression (in diopters/year). For the 3 to 10 years group, the annual SE progression tended to be highest for 2020-2021 and 2019-2020 compared to previous years. CONCLUSIONS: Children had more myopia in 2021 and 2020 (during lockdown) compared to previous years. The myopia annual progression tended to be highest in 2020-2021, especially for the younger age group, but the difference was not statistically significant. [J Pediatr Ophthalmol Strabismus. 2023;60(5):353-358.].

Transient crystalline lens deposits following the insertion of a phakic sulcus-fixated collamer intraocular lens in a hyperopic eye.

PURPOSE: The purpose of this study was to report crystalline lens deposit formation following ICL implantation for the correction of hyperopia. OBSERVATIONS: A 23-year-old male presented at the American University of Beirut Medical Center in 2008 seeking refractive surgery for hyperopia. His cycloplegic refraction was +7-1.25 × 115° and +7-1.00 × 115° in the right and left eyes, respectively, yielding a vision of 20/20 bilaterally. The patient underwent right eye insertion of a non-toric phakic sulcus-fixated collamer lens 2 weeks after undergoing peripheral iridotomies. The early postoperative course was complicated by anterior chamber inflammation and the appearance of diffuse whitish precipitates on the anterior surface of the crystalline lens, hypotony, and a mid-dilated mildly reactive pupil. With the prompt administration of topical and systemic steroids, the anterior chamber reaction subsided, and the anterior capsular deposits gradually resolved peripherally with some remaining centrally over the course of several weeks. The patient's visual acuity at 6 months was 20/20. CONCLUSIONSAND IMPORTANCE: Adequate viscoelastic removal and minimal iris stimulation seem to be essential to avoid this condition in hyperopic implants that lack a central port. Additionally, prompt treatment can minimize visual impairment and hasten visual recovery.