Assessment of the ovarian reserve in patients with beta-thalassemia major: a prospective longitudinal study

Objective: Repeated blood transfusions in women with beta-thalassemia major (BTM) may lead to iron overload and increase oxidative stress, consequently resulting in ovarian damage. The aim was to evaluate alterations in ovarian reserve in transfusion-dependent BTM patients over a time period of one year and to compare levels of anti-Mullerian hormone (AMH) in women with BTM and their healthy peers. Material and Methods: This longitudinal prospective study was conducted in women with transfusion-dependent BTM at a tertiary level hospital. The hospital database was interogated for women diagnosed with BTM between 1996 and 2021. AMH levels were assessed at baseline and one year later. Results: Forty-one women with BTM were identified, of whom 25 (60.9%) had amenorrhea and 16 (39.1%) had normal cycles. The mean AMH level of all women was 2.7±1.8 ng/mL at baseline, significantly lower than the age-matched nomogram value of 4.0±0.4 ng/mL for a healthy population (p=0.001). The baseline AMH level of patients with amenorrhea were significantly lower than patients with normal menstrual cycles (2.1±1.8 vs. 3.6±1.5 ng/mL, p=0.009). After one-year follow-up, there was a trend towards a decrease in the AMH levels of patients with normal menstrual cycles. Conclusion: Serum AMH values are decreased in patients with transfusion-dependent BTM. BTM patients should be educated about the possible effects of repeated blood transfusions on fertility.

Left ventricular systolic dyssynchrony index and endothelial dysfunction parameters as subclinical predictors of cardiovascular involvement in patients with beta-thalassemia major.

OBJECTIVE: Cardiovascular iron load is the leading cause of morbidity and mortality in beta-thalassemia major (ß-TM). However, many patients remain asymptomatic until the late stage. In this cross-sectional study, we investigated the role of three-dimensional (3D) echocardiography and endothelial dysfunction parameters in asymptomatic ß-TM patients, and the relationship between these parameters and cardiac magnetic resonance imaging (MRI) T2* value. METHODS: A total of 51 asymptomatic ß-TM patients receiving regular blood transfusions were divided into two groups based on cardiac MRI-T2* values (MRI-T2*<20 ms and ≥20 ms), which MRI-T2*<20 ms determines myocardial iron load and evaluated by two-dimensional (2D) and 3D-echocardiography including endothelial dysfunction parameters. The relationships between ferritin levels, 2D and 3D-echocardiography measurements, endothelial dysfunction parameters, and cardiac MRI-T2* values were investigated. RESULTS: All left ventricle ejection fraction (LVEF) obtained by 2D-echocardiography were normal (≥50%). LVEF-3D (53.25 ± 2.33 vs. 58.81 + 1.02), SDI12 (6.53 ± 0.56 vs. 2.85 + 0.48), and SDI16 (7.65 ± 0.75 vs. 3.26 + 0.49) were significantly different and negatively correlated between groups with MRI-T2*<20 ms and ≥20 ms, respectively. Flow-mediated dilatation (FMD) (6.08% ± 0.34% vs. 14.46% ± 1.12), aortic strain (7.79% ± 2.19% vs. 12.76% ± 4.19), ferritin levels were significantly different and negatively correlated between groups with MRI-T2*<20 ms and ≥20 ms, respectively. Higher ferritin, SDI12/16 were significant independent predictors of MR-T2* < 20 ms. SDI16 > 5.5, SDI12 > 4.3 predicted MRI-T2*<20ms with a sensitivity of 92%, specificity of 81% (AUC 0.85, P < .001), and sensitivity of 92%, specificity of 78% (AUC 0.83, P < .001), respectively. CONCLUSION: SDI12/16 calculated by 3D-echocardiography may be a promising predictors of cardiovascular iron load and, decreased LVEF-3D, FMD, and aortic strain might be good indicators of subclinical cardiovascular involvement of ß-TM.

Retrospective analysis of rituximab therapy and splenectomy in childhood chronic and refractory immune thrombocytopenic purpura.

Immune thrombocytopenic purpura (ITP) results from accelerated platelet destruction mediated by autoantibodies to platelet glycoproteins. Some patients with chronic ITP are refractory to all therapies [steroids, intravenous immunoglobulin (IVIG), anti-D and immunosuppresive drugs] and have chronic low platelet counts and episodic bleeding. We retrospectively evaluated the efficacy and safety of rituximab treatment and splenectomy in paediatric patients diagnosed with chronic and refractory ITP who were unresponsive to steroids, IVIG, cyclosporine and mycophenolate mofetil. Records of patients with chronic and refractory ITP in 459 patients with primary ITP who were followed up in our hospital from January 2005 to December 2014 were reviewed. Fifteen of patients received rituximab and/or applied splenectomy. Fifteen chronic ITP patients (10 boys, five girls) with a mean age of 10 years were enrolled in the study. Two of these patients were suffering from Evans syndrome. The median time since diagnosis of ITP was 10 years. The median follow-up duration after starting Rituximab and splenectomy were 13 and 9.5 months, respectively.None of the seven patients who were treated with rituximab achieved a response. A splenectomy was performed in six of the seven patients who had been treated with rituximab. Complete and partial responses were achieved in 67 and 33% of the patients, respectively. We evaluated the clinical characteristics and responses of chronic ITP patients who did not receive rituximab therapy and underwent a splenectomy. The success rate was 100% in the eight patients with chronic and refractory ITP. Rituximab therapy might not be beneficial for some children with severe chronic ITP who are refractory to standard agents. A splenectomy might be useful and preferable to rituximab.