Longitudinal changes of endocrine and bone disease in adults with ß-thalassemia major receiving different iron chelators over 5 years.

In this study, we compared the long-term effects of different iron chelation regimens (deferoxamine, deferiprone, deferoxamine + deferiprone, and deferasirox) in preventing or reversing endocrinopathy (diabetes mellitus, hypothyroidism, or hypogonadism) and bone disease (measured through DEXA) in 165 adults with ß-thalassemia major (TM) (mean age 39.9 ± 8.3 years, 43 % males). After five consecutive years of therapy, patients on deferasirox had the highest decrease in the prevalence of any endocrinopathy compared to other chelators which either had no change (deferiprone and deferoxamine) or had an increase (deferoxamine + deferiprone), p = 0.015. This was attributed to a lower proportion of patients on deferasirox developing new-onset endocrinopathy and higher proportion showing reversal of disease, compared to other chelators. A serum ferritin level of >1300 ng/mL predicted the development of new endocrinopathy (p = 0.025) while a level of <200 ng/mL predicted reversal of existing endocrinopathy (p = 0.147). A significant increase in mean BMD T-score (p < 0.001) and a considerable decrease in osteoporosis prevalence were observed in patients receiving deferasirox but not other chelators. Iron chelation therapy with deferasirox has a role in the prevention of endocrinopathy and reversal of existing disease.

Humoral immune response to Comirnaty (BNT162b2) SARS-Cov2 mRNA vaccine in Thalassemia Major patients.

One of the most urgent needs worldwide is to vaccinate against SARS-CoV-2 as many people as possible. We evaluated humoral response to Comirnaty vaccine in Thalassemia Major patients (TM). We measured SARS-CoV-2-specific antibodies against Spike protein in 57 TM patients and 58 healthy blood donors (HBD). TM and HBD subjects revealed a homogeneous serological response to the Comirnaty (Mean ± SD; TM = 1917,21 ± 1384,49; HBD = 2039,81 ± 1064,44; p = 0,5884). No statistically significant differences were observed among two groups. Interestingly, we observed in 73.3% of asplenic patients Ab-S titres above 800 BAU, whereas only in 26% of non splenectomized patients showed Ab-S titres above 800 BAU). This differences were statistically significant p < 0.039. Further measurement on other Ab types was needed for better understanding humoral response to Comirnaty.

COVID-19 pneumonia and pulmonary microembolism in a patient with B-thalassemia major.

We think that thalassemia is not necessarily a cause of aggravation of the clinical course in COVID-19; however, certain key factors must be considered, such as the anemic condition, the likely pathogenic role of the virus on hemoglobin, and the hypercoagulable state to prevent any complications.

Early impairment of myocardial function in young patients with beta-thalassemia major.

BACKGROUND AND OBJECTIVE: One of the chief causes of death in patients with beta-thalassemia major (TM) remains heart failure due to iron overload. We investigated possible differences in myocardial function between a population of young asymptomatic patients with TM and healthy controls all of whom underwent an echocardiographic study, including tissue Doppler (TDI) and strain imaging (SI) analysis and cardiac magnetic resonance imaging (MRI). METHODS: 30 young asymptomatic patients with TM (16 taking deferoxamine and 14 taking deferiprone) and 30 healthy subjects underwent a cardiac MRI with T2* technique and an echocardiographic evaluation including systolic myocardial velocities (Sm), early (Em) and late (Am) diastolic velocities and systolic strain (S) at the level of basal segments of the lateral left ventricle (LV), interventricular septum (Septal) and lateral right ventricle (RV) wall. The differences in T2* values and echocardiographic parameters were also compared in patients with TM subgrouped according to iron chelation therapy. RESULTS: The following TDI and SI measures were lower in patients than in controls: LV-Sm (P < 0.05), S-LV (P < 0.001), Septal-Sm (P < 0.05), Septal-Em (P < 0.001), S-Septal (P < 0.001), RV-Sm (P < 0.001), RV-Em (P < 0.001), RV-Em/Am (P < 0.05) and S-RV (P < 0.05). Myocardial function was better in the patients receiving deferiprone than those receiving deferoxamine. T2* values were higher in controls than in patients with TM and in those treated with deferiprone than those treated with deferoxamine. MRI data well correlated with SI parameters. CONCLUSIONS: Study underlines that, even in a population of young, asymptomatic and well-chelated patients with TM, there is an impairment of myocardial function and that this condition could be easily detected by more advanced ultrasound techniques such as TDI and SI. The better indices of myocardial function in patients treated with deferiprone clearly needs confirmation from larger prospective studies.

Increased QT variability in young asymptomatic patients with beta-thalassemia major.

BACKGROUND: Despite recent progress in iron chelation therapy, sudden cardiac death due to malignant ventricular arrhythmias remains a vexing, clinical problem in patients with beta-thalassemia major (TM). In this study we assessed whether the major indices of QT variability, emerging tools for risk stratification of sudden cardiac death, differ in young asymptomatic patients with TM and healthy persons. METHODS: Thirty patients with TM and 30 healthy control subjects underwent a 5-min electrocardiography recording to calculate the following variables: QT variance (QT(v)), QT(v) normalized for mean QT (QTVN) and QT variability index (QTVI). All subjects also underwent a two-dimensional and Doppler echocardiography study and magnetic resonance imaging (MRI) to determine cardiac and hepatic T2* values. RESULTS: No differences were observed in clinical and conventional echo-Doppler findings in healthy control subjects and patients with TM whereas QT(v), QTVN and QTVI values were significantly higher in patients than those in controls (QT(v), P < 0.001; QTVN, P < 0.05 and QTVI, P < 0.001) and cardiac T2* and hepatic MRI T2* values were significantly lower in patients with TM (P < 0.001). The indices of temporal QT variability correlated significantly with MRI data. CONCLUSIONS: Young asymptomatic patients with TM have increased cardiac repolarization variability as assessed by QT variability indices, probably due to cardiac iron deposition. These easily assessed, non-invasive markers could be used to identify increased myocardial repolarization lability early in asymptomatic patients with TM.