Amal El-beshlawy | Cairo University (original) (raw)

Papers by Amal El-beshlawy

Research paper thumbnail of Performance of a clinical risk prediction model for inhibitor formation in severe haemophilia A

Haemophilia

BackgroundThere is a need to identify patients with haemophilia who have a very low or high risk ... more BackgroundThere is a need to identify patients with haemophilia who have a very low or high risk of developing inhibitors. These patients could be candidates for personalized treatment strategies.AimsThe aim of this study was to externally validate a previously published prediction model for inhibitor development and to develop a new prediction model that incorporates novel predictors.MethodsThe population consisted of 251 previously untreated or minimally treated patients with severe haemophilia A enrolled in the SIPPET study. The outcome was inhibitor formation. Model discrimination was measured using the C‐statistic, and model calibration was assessed with a calibration plot. The new model was internally validated using bootstrap resampling.ResultsFirstly, the previously published prediction model was validated. It consisted of three variables: family history of inhibitor development, F8 gene mutation and intensity of first treatment with factor VIII (FVIII). The C‐statistic was ...

Research paper thumbnail of Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity

Thalassemia Reports

In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalas... more In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia patients into clusters using RF analysis. RF clustering suggested that three clusters with minimal overlapping exist (classification error rate: 4.3%), and six important IPhS were identified: the current age of the patient, the mean serum ferritin level, the age at diagnosis, the age at first transfusion, the age at first iron chelation, and the number of complications. Cluster 3 represented patients with early initiation of transfusion and iron chelation, considerable iron overload, and early mortality from heart failure. Patients in Cluster 2 had lower serum ferritin levels, although they had a higher number of complications manifesting ov...

Research paper thumbnail of Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia

SSRN Electronic Journal, 2019

Research paper thumbnail of Efficacy and Safety of Deferasirox in Reducing Myocardial Siderosis in Patients with B-Thalassaemia Major

14th Annual Meeting of the European-Hematology-Association -- JUN 04-07, 2009 -- Berlin, GERMANYW... more 14th Annual Meeting of the European-Hematology-Association -- JUN 04-07, 2009 -- Berlin, GERMANYWOS: 000266931900195European Hematol Asso

Research paper thumbnail of Continued Improvement in Cardiac T2*WITH Deferasirox Treatment Over 2 Years: Results from the Extension of Epic Cardiac Substudy in Beta-Thalassaemia Patients with Myocardial Siderosis

15th Annual Meeting of the European-Hematology-Association -- JUN 10-13, 2010 -- Barcelona, SPAIN... more 15th Annual Meeting of the European-Hematology-Association -- JUN 10-13, 2010 -- Barcelona, SPAINWOS: 000279051300497European Hematol Asso

Research paper thumbnail of Deferiprone vs deferoxamine for transfusional iron overload in SCD and other anemias: a randomized, open-label noninferiority study

Blood Advances, 2021

Many people with sickle cell disease (SCD) or other anemias require chronic blood transfusions, w... more Many people with sickle cell disease (SCD) or other anemias require chronic blood transfusions, which often causes iron overload that requires chelation therapy. The iron chelator deferiprone is frequently used in individuals with thalassemia syndromes, but data in patients with SCD are limited. This open-label study assessed the efficacy and safety of deferiprone in patients with SCD or other anemias receiving chronic transfusion therapy. A total of 228 patients (mean age: 16.9 [range, 3-59] years; 46.9% female) were randomized to receive either oral deferiprone (n = 152) or subcutaneous deferoxamine (n = 76). The primary endpoint was change from baseline at 12 months in liver iron concentration (LIC), assessed by R2* magnetic resonance imaging (MRI). The least squares mean (standard error) change in LIC was −4.04 (0.48) mg/g dry weight for deferiprone vs −4.45 (0.57) mg/g dry weight for deferoxamine, with noninferiority of deferiprone to deferoxamine demonstrated by analysis of co...

Research paper thumbnail of Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia

Research paper thumbnail of Effect of Deferasirox (Exjade®) on Labile Plasma Iron Levels in Heavily Iron-Overloaded Patients with Transfusion-Dependent Anemias Enrolled in the Large-Scale, Prospective 1-Year EPIC Trial

Blood, 2008

Background: Labile plasma iron (LPI) is a toxic, directly chelatable form of non-transferrin- bou... more Background: Labile plasma iron (LPI) is a toxic, directly chelatable form of non-transferrin- bound iron that is produced continually in conditions of iron overload and, due to rapid uptake into hepatocytes, myocardium and endocrine tissues, leads to secondary expansion of the cellular iron pool. The sustained presence of an iron chelator in the plasma may help avoid accumulation of LPI, thereby minimizing iron-related morbidity and mortality. This analysis evaluates the effect of deferasirox on LPI levels in patients (pts) with transfusion-dependent anemias enrolled in the large-scale, prospective, 1-yr multicenter EPIC trial. Methods: Enrolled pts were aged ≥2 yrs, had transfusion-dependent anemia and serum ferritin (SF) levels of ≥1000 ng/mL, or <1000 ng/mL with a history of multiple transfusions (>20 transfusion episodes or >100 mL/kg of RBCs) and an R2 MRI-confirmed LIC >2 mg Fe/g dry weight (dw). Deferasirox starting dose was determined based on blood transfusion f...

Research paper thumbnail of Efficacy and Safety of Once-Daily, Oral Iron Chelator Deferasirox (Exjade®) in a Large Group of Regularly Transfused Patients with β-Thalassemia Major

Blood, 2008

Background: The 1-year, prospective, multicenter EPIC trial, the largest ever conducted for an ir... more Background: The 1-year, prospective, multicenter EPIC trial, the largest ever conducted for an iron-chelating agent, evaluated the efficacy and safety of the once-daily, oral chelator deferasirox (Exjade®) in patients (pts) with transfusion-dependent anemias. 54% of 1744 pts had β-thalassemia major, providing one of the largest data sets assessing the use of deferasirox in this group. Data from this subgroup are presented. Methods: Pts (≥2 years old) with transfusional iron overload due to β-thalassemia and serum ferritin (SF) levels of ≥1000 ng/mL or <1000 ng/mL but with a history of multiple transfusions (>20 transfusions or 100 mL/kg of blood) and R2 MRI-confirmed liver iron concentration >2 mg Fe/g dry weight, received an initial deferasirox dose of 10–30 mg/kg/day dependent on transfusion requirements. Protocol-specified dose adjustments in steps of 5–10 mg/kg/day (range 0–40 mg/kg/day) were done every 3 months based on SF trends and safety markers. The change at week ...

Research paper thumbnail of Efficacy and Safety of Deferasirox (Exjade®) in Patients with β-Thalassemia Major Treated for up to 5 Years

Blood, 2009

4063 Poster Board III-998 Background In a large, 1-yr Phase 3 clinical trial, patients (pts) with... more 4063 Poster Board III-998 Background In a large, 1-yr Phase 3 clinical trial, patients (pts) with β-thalassemia (aged ≥2 yrs) were randomized to receive deferasirox (Exjade®) or deferoxamine (DFO), with doses assigned according to baseline liver iron concentration (LIC). Pts completing the 1-yr core were permitted to enter a 4-yr extension; those receiving deferasirox continued on this therapy (deferasirox cohort), while those receiving DFO crossed over to deferasirox (crossover cohort). This analysis evaluates the efficacy and safety of deferasirox over 5 yrs. Methods Based on analyses showing that iron burden and transfusional iron intake need to be considered for appropriate dosing of deferasirox, dose adjustments were permitted in the extension to ensure optimal dosing. Deferasirox dose in the extension was initially based on dose response in the core (deferasirox cohort only) and end-of-core LIC (biopsy or SQUID); subsequent adjustments in steps of 5–10 mg/kg/day were based on ...

Research paper thumbnail of Deferasirox Compared With Deferoxamine For The Removal Of Cardiac Iron In Patients With β-Thalassemia Major: 2-Year Data From The Cordelia Extension

Blood, 2013

Background Cardiac iron removal is relatively slow and patients with cardiac siderosis can take y... more Background Cardiac iron removal is relatively slow and patients with cardiac siderosis can take years to normalize cardiac T2* to >20 ms. Prospective comparison of iron chelators are mostly limited to studies of 1-yr duration. CORDELIA is a large randomized trial comparing deferasirox (DFX) with deferoxamine (DFO) in patients with β-thalassemia major (TM), which demonstrated the non-inferiority of DFX vs DFO for cardiac iron removal at 1 yr, with a trend for superiority of DFX (P=0.057). This 1-yr extension was planned to collect additional data on efficacy and safety of DFX and DFO in patients with cardiac siderosis when treated for up to 2 yr. Methods Study design has been reported previously (Pennell Blood 2012; abst 2124). Patients enrolled had cardiovascular magnetic resonance-measured cardiac T2* 6–20 ms, left ventricular ejection fraction (LVEF) ≥56%, and R2-magnetic resonance imaging liver iron concentration (LIC) ≥3 mg Fe/g dw. Patients completing 1 yr were eligible to c...

Research paper thumbnail of Serum Ferritin Levels and Morbidity in β-Thalassemia Intermedia: A 10-Year Cohort Study

Blood, 2012

1021 Background: An association between iron overload and morbidity in patients with β-thalassemi... more 1021 Background: An association between iron overload and morbidity in patients with β-thalassemia intermedia (TI) has been established. However, available studies relied on cross-sectional analysis (measures of prevalence rather than incidence) without a clear chronological relationship between risk factors and outcomes. Methods: We conducted a retrospective cohort study of TI patients treated at five comprehensive care centers in Italy, Lebanon, Oman, Iran and Egypt. We included all patients attending the centers since 01 January 2000 and regularly followed until 31 December 2009 or death. For each patient, we retrieved serum ferritin (SF) and total hemoglobin (Hb) levels for every year during the 10-year follow up period, and calculated the average SF and total Hb levels during the study period (10-year indices). Moreover, we retrieved data on the incidence of nine pre-defined morbidities during the study period. Data on splenectomy status was also retrieved. For this preliminary...

Research paper thumbnail of A Multicenter, Randomized, Open-Label Trial Evaluating Deferasirox Compared with Deferoxamine for the Removal of Cardiac Iron in Patients with β-Thalassemia Major and Iron Overload (CORDELIA)

Blood, 2012

2124 Background: Without effective iron chelation therapy (ICT), patients with transfusional iron... more 2124 Background: Without effective iron chelation therapy (ICT), patients with transfusional iron overload are at risk of excess iron-related cardiac complications. Cardiac iron accumulation can be measured using T2* magnetic resonance (normal >20 ms, high risk <10 ms). There are few randomized controlled trials assessing ICT for cardiac iron removal. CORDELIA is a Phase II, multinational, randomized comparison of efficacy and safety of 1-yr treatment with deferasirox or deferoxamine (DFO). Primary objective was non-inferiority of deferasirox vs DFO for cardiac iron removal after 1 yr. Methods: Patients with β-thalassemia major, cardiac T2* 6–20 ms, no clinical symptoms of cardiac dysfunction, aged ≥10 yrs, history of ≥50 transfusions, left ventricular ejection fraction (LVEF) ≥56% and liver iron concentration (LIC) ≥3 mg Fe/g dry weight (dw) were recruited. Patients were randomized to an intensified DFO regimen with a target dose of 50–60 mg/kg/d sc for 8–12 hrs, 5–7 d/wk, or...

Research paper thumbnail of A Randomized Trial of Factor VIII and Neutralizing Antibodies in Hemophilia A

New England Journal of Medicine, 2016

The authors' full names, academic degrees, and affiliations are listed in the Appendix. Address r... more The authors' full names, academic degrees, and affiliations are listed in the Appendix. Address reprint requests to Dr.

Research paper thumbnail of Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload

Blood, 2015

Key Points DFX-DFO combination followed by DFX monotherapy led to a meaningful decrease in myocar... more Key Points DFX-DFO combination followed by DFX monotherapy led to a meaningful decrease in myocardial and liver iron in severe siderosis patients. Substantial liver iron reduction may be helpful in patients needing rapid control of liver iron (eg, pretransplant or planned pregnancy).

Research paper thumbnail of Prevalence and distribution of iron overload in patients with transfusion‐dependent anemias differs across geographic regions: results from the CORDELIA study

European Journal of Haematology, 2015

ObjectivesThe randomized comparison of deferasirox to deferoxamine for myocardial iron removal in... more ObjectivesThe randomized comparison of deferasirox to deferoxamine for myocardial iron removal in patients with transfusion‐dependent anemias (CORDELIA) gave the opportunity to assess relative prevalence and body distribution of iron overload in screened patients.MethodsPatients aged ≥10 yr with transfusion‐dependent anemias from 11 countries were screened. Data were summarized descriptively, overall and across regions.ResultsAmong 925 patients (99.1% with β‐thalassemia major; 98.5% receiving prior chelation; mean age 19.2 yr), 36.7% had myocardial iron overload (myocardial T2* ≤20 ms), 12.1% had low left ventricular ejection fraction. Liver iron concentration (LIC) (mean 25.8 mg Fe/g dw) and serum ferritin (median 3702 ng/mL) were high. Fewer patients in the Middle East (ME; 28.5%) had myocardial T2* ≤20 ms vs. patients in the West (45.9%) and Far East (FE, 40.9%). Patients in the West had highest myocardial iron burden, but lowest LIC (26.9% with LIC <7 mg Fe/g dw) and serum fe...

Research paper thumbnail of Early Detection of Right Ventricular Diastolic Dysfunction by Pulsed Tissue Doppler Echocardiography in Iron Loaded Beta Thalassemia Patients

Pediatric Cardiology, 2014

Early heart iron overload in beta thalassemia major patients can be quantified through T2* cardio... more Early heart iron overload in beta thalassemia major patients can be quantified through T2* cardiovascular magnetic resonance (CMR). To clarify the value of tissue Doppler imaging (TDI) in early detection of myocardial dysfunction in iron loaded thalassemia patients diagnosed by CMR. Two groups were included in the study; Group I: 69 asymptomatic thalassemia patients (28 females, 41 males), mean age 18.1 ± 7.03 years (range 6-39 years); Group II (n = 41) healthy normal controls matched for age and sex. Serum ferritin and CMR were performed to assess the cardiac siderosis (T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 20 ms). Group I was subdivided into two subgroups; Group Ia (n = 26) T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 20 ms and Group Ib (n = 43) T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; 20 ms. Conventional and Doppler echocardiography of LV, RV dimensions and functions and pulmonary artery pressure were evaluated. Right ventricular diastolic function assessed by tricuspid annular E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; was positively correlated with T2* value; lower tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; ratios were correlated with lower T2* values (r = 0.366, P = 0.002). Tricuspid annular A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; was significantly higher in group Ia compared to group Ib (16.7 ± 5.2 vs 12.1 ± 4.0 cm/s, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). Tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 1 was common in group Ia compared to group Ib (19/26 (73.0) vs 3/43 (6.97%), P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). By multivariate analysis, right ventricular diastolic dysfunction (tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 1) was associated with serum ferritin and T2* level of the thalassemia patients. TDI is a promising tool for quantitative assessment of myocardial function and early detection of right ventricular diastolic dysfunction in iron loaded beta thalassemia major patients.

Research paper thumbnail of Prenatal diagnosis for thalassaemia in Egypt: what changed parents' attitude?

Research paper thumbnail of The effect of reducing repetition time TR on the measurement of liver R2 for the purpose of measuring liver iron concentration

Magnetic Resonance in Medicine, 2010

The effects of reducing the pulse repetition time from 2500 ms to 1000 ms when using spin-density... more The effects of reducing the pulse repetition time from 2500 ms to 1000 ms when using spin-density-projection-assisted R2magnetic resonance imaging for the purpose of measuring liver iron concentration were evaluated. Repeated liver R2 measurements were made using both protocols on 60 subjects with liver iron concentrations ranging from 0.5 to 48.6 mg Fe (g dry tissue) 21. The mean total scan time at repetition time 1000 ms was 42% of that at repetition time 2500 ms. The repeatability coefficients for the two protocols were not significantly different from each other. A systematic difference in the measured R2 using each protocol was found indicating that an adjustment factor is required when one protocol is used to replace the other. The 95% limits of agreement between the two protocols were not significantly different from their repeatability coefficients indicating that the protocols can be interchanged without any significant change in accuracy or precision of liver iron concentration measurement. Magn Reson Med 000:000-000, 2010. V

Research paper thumbnail of Intrafamilial Transmission of Hepatitis C Infection in Egyptian Multitransfused Thalassemia Patients

Journal of Tropical Pediatrics, 2013

Objective: Detecting the current prevalence of hepatitis C virus (HCV) among Egyptian multitransf... more Objective: Detecting the current prevalence of hepatitis C virus (HCV) among Egyptian multitransfused thalassemic patients and evaluating the risk of its transmission within their family members. Methods: Multitransfused Egyptian thalassemia patients (n ¼ 137) were tested for HCV infection. Household contacts of positive members were compared with household contacts of HCV-negative patients. Antibodies to HCV were detected by enzyme immunoassay. Antibody-positive cases were retested for viral load using reverse transcriptase polymerase chain reaction. HCV genotyping was performed on positive samples of the patients and the positive household contacts. Results: In all, 34.4% of patients (n ¼ 47) were positive for HCV antibodies and RNA. The study of 24 families of HCV-positive patients showed 14 affected family members (19.2%). In 27 families of HCVnegative patients, four family members were affected (4.9%). HCV genotyping of seven families was similar in both patients and their family members. Conclusion: Our results support the role of intrafamilial transmission in the spread of HCV.

Research paper thumbnail of Performance of a clinical risk prediction model for inhibitor formation in severe haemophilia A

Haemophilia

BackgroundThere is a need to identify patients with haemophilia who have a very low or high risk ... more BackgroundThere is a need to identify patients with haemophilia who have a very low or high risk of developing inhibitors. These patients could be candidates for personalized treatment strategies.AimsThe aim of this study was to externally validate a previously published prediction model for inhibitor development and to develop a new prediction model that incorporates novel predictors.MethodsThe population consisted of 251 previously untreated or minimally treated patients with severe haemophilia A enrolled in the SIPPET study. The outcome was inhibitor formation. Model discrimination was measured using the C‐statistic, and model calibration was assessed with a calibration plot. The new model was internally validated using bootstrap resampling.ResultsFirstly, the previously published prediction model was validated. It consisted of three variables: family history of inhibitor development, F8 gene mutation and intensity of first treatment with factor VIII (FVIII). The C‐statistic was ...

Research paper thumbnail of Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity

Thalassemia Reports

In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalas... more In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia patients into clusters using RF analysis. RF clustering suggested that three clusters with minimal overlapping exist (classification error rate: 4.3%), and six important IPhS were identified: the current age of the patient, the mean serum ferritin level, the age at diagnosis, the age at first transfusion, the age at first iron chelation, and the number of complications. Cluster 3 represented patients with early initiation of transfusion and iron chelation, considerable iron overload, and early mortality from heart failure. Patients in Cluster 2 had lower serum ferritin levels, although they had a higher number of complications manifesting ov...

Research paper thumbnail of Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia

SSRN Electronic Journal, 2019

Research paper thumbnail of Efficacy and Safety of Deferasirox in Reducing Myocardial Siderosis in Patients with B-Thalassaemia Major

14th Annual Meeting of the European-Hematology-Association -- JUN 04-07, 2009 -- Berlin, GERMANYW... more 14th Annual Meeting of the European-Hematology-Association -- JUN 04-07, 2009 -- Berlin, GERMANYWOS: 000266931900195European Hematol Asso

Research paper thumbnail of Continued Improvement in Cardiac T2*WITH Deferasirox Treatment Over 2 Years: Results from the Extension of Epic Cardiac Substudy in Beta-Thalassaemia Patients with Myocardial Siderosis

15th Annual Meeting of the European-Hematology-Association -- JUN 10-13, 2010 -- Barcelona, SPAIN... more 15th Annual Meeting of the European-Hematology-Association -- JUN 10-13, 2010 -- Barcelona, SPAINWOS: 000279051300497European Hematol Asso

Research paper thumbnail of Deferiprone vs deferoxamine for transfusional iron overload in SCD and other anemias: a randomized, open-label noninferiority study

Blood Advances, 2021

Many people with sickle cell disease (SCD) or other anemias require chronic blood transfusions, w... more Many people with sickle cell disease (SCD) or other anemias require chronic blood transfusions, which often causes iron overload that requires chelation therapy. The iron chelator deferiprone is frequently used in individuals with thalassemia syndromes, but data in patients with SCD are limited. This open-label study assessed the efficacy and safety of deferiprone in patients with SCD or other anemias receiving chronic transfusion therapy. A total of 228 patients (mean age: 16.9 [range, 3-59] years; 46.9% female) were randomized to receive either oral deferiprone (n = 152) or subcutaneous deferoxamine (n = 76). The primary endpoint was change from baseline at 12 months in liver iron concentration (LIC), assessed by R2* magnetic resonance imaging (MRI). The least squares mean (standard error) change in LIC was −4.04 (0.48) mg/g dry weight for deferiprone vs −4.45 (0.57) mg/g dry weight for deferoxamine, with noninferiority of deferiprone to deferoxamine demonstrated by analysis of co...

Research paper thumbnail of Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia

Research paper thumbnail of Effect of Deferasirox (Exjade®) on Labile Plasma Iron Levels in Heavily Iron-Overloaded Patients with Transfusion-Dependent Anemias Enrolled in the Large-Scale, Prospective 1-Year EPIC Trial

Blood, 2008

Background: Labile plasma iron (LPI) is a toxic, directly chelatable form of non-transferrin- bou... more Background: Labile plasma iron (LPI) is a toxic, directly chelatable form of non-transferrin- bound iron that is produced continually in conditions of iron overload and, due to rapid uptake into hepatocytes, myocardium and endocrine tissues, leads to secondary expansion of the cellular iron pool. The sustained presence of an iron chelator in the plasma may help avoid accumulation of LPI, thereby minimizing iron-related morbidity and mortality. This analysis evaluates the effect of deferasirox on LPI levels in patients (pts) with transfusion-dependent anemias enrolled in the large-scale, prospective, 1-yr multicenter EPIC trial. Methods: Enrolled pts were aged ≥2 yrs, had transfusion-dependent anemia and serum ferritin (SF) levels of ≥1000 ng/mL, or <1000 ng/mL with a history of multiple transfusions (>20 transfusion episodes or >100 mL/kg of RBCs) and an R2 MRI-confirmed LIC >2 mg Fe/g dry weight (dw). Deferasirox starting dose was determined based on blood transfusion f...

Research paper thumbnail of Efficacy and Safety of Once-Daily, Oral Iron Chelator Deferasirox (Exjade®) in a Large Group of Regularly Transfused Patients with β-Thalassemia Major

Blood, 2008

Background: The 1-year, prospective, multicenter EPIC trial, the largest ever conducted for an ir... more Background: The 1-year, prospective, multicenter EPIC trial, the largest ever conducted for an iron-chelating agent, evaluated the efficacy and safety of the once-daily, oral chelator deferasirox (Exjade®) in patients (pts) with transfusion-dependent anemias. 54% of 1744 pts had β-thalassemia major, providing one of the largest data sets assessing the use of deferasirox in this group. Data from this subgroup are presented. Methods: Pts (≥2 years old) with transfusional iron overload due to β-thalassemia and serum ferritin (SF) levels of ≥1000 ng/mL or <1000 ng/mL but with a history of multiple transfusions (>20 transfusions or 100 mL/kg of blood) and R2 MRI-confirmed liver iron concentration >2 mg Fe/g dry weight, received an initial deferasirox dose of 10–30 mg/kg/day dependent on transfusion requirements. Protocol-specified dose adjustments in steps of 5–10 mg/kg/day (range 0–40 mg/kg/day) were done every 3 months based on SF trends and safety markers. The change at week ...

Research paper thumbnail of Efficacy and Safety of Deferasirox (Exjade®) in Patients with β-Thalassemia Major Treated for up to 5 Years

Blood, 2009

4063 Poster Board III-998 Background In a large, 1-yr Phase 3 clinical trial, patients (pts) with... more 4063 Poster Board III-998 Background In a large, 1-yr Phase 3 clinical trial, patients (pts) with β-thalassemia (aged ≥2 yrs) were randomized to receive deferasirox (Exjade®) or deferoxamine (DFO), with doses assigned according to baseline liver iron concentration (LIC). Pts completing the 1-yr core were permitted to enter a 4-yr extension; those receiving deferasirox continued on this therapy (deferasirox cohort), while those receiving DFO crossed over to deferasirox (crossover cohort). This analysis evaluates the efficacy and safety of deferasirox over 5 yrs. Methods Based on analyses showing that iron burden and transfusional iron intake need to be considered for appropriate dosing of deferasirox, dose adjustments were permitted in the extension to ensure optimal dosing. Deferasirox dose in the extension was initially based on dose response in the core (deferasirox cohort only) and end-of-core LIC (biopsy or SQUID); subsequent adjustments in steps of 5–10 mg/kg/day were based on ...

Research paper thumbnail of Deferasirox Compared With Deferoxamine For The Removal Of Cardiac Iron In Patients With β-Thalassemia Major: 2-Year Data From The Cordelia Extension

Blood, 2013

Background Cardiac iron removal is relatively slow and patients with cardiac siderosis can take y... more Background Cardiac iron removal is relatively slow and patients with cardiac siderosis can take years to normalize cardiac T2* to >20 ms. Prospective comparison of iron chelators are mostly limited to studies of 1-yr duration. CORDELIA is a large randomized trial comparing deferasirox (DFX) with deferoxamine (DFO) in patients with β-thalassemia major (TM), which demonstrated the non-inferiority of DFX vs DFO for cardiac iron removal at 1 yr, with a trend for superiority of DFX (P=0.057). This 1-yr extension was planned to collect additional data on efficacy and safety of DFX and DFO in patients with cardiac siderosis when treated for up to 2 yr. Methods Study design has been reported previously (Pennell Blood 2012; abst 2124). Patients enrolled had cardiovascular magnetic resonance-measured cardiac T2* 6–20 ms, left ventricular ejection fraction (LVEF) ≥56%, and R2-magnetic resonance imaging liver iron concentration (LIC) ≥3 mg Fe/g dw. Patients completing 1 yr were eligible to c...

Research paper thumbnail of Serum Ferritin Levels and Morbidity in β-Thalassemia Intermedia: A 10-Year Cohort Study

Blood, 2012

1021 Background: An association between iron overload and morbidity in patients with β-thalassemi... more 1021 Background: An association between iron overload and morbidity in patients with β-thalassemia intermedia (TI) has been established. However, available studies relied on cross-sectional analysis (measures of prevalence rather than incidence) without a clear chronological relationship between risk factors and outcomes. Methods: We conducted a retrospective cohort study of TI patients treated at five comprehensive care centers in Italy, Lebanon, Oman, Iran and Egypt. We included all patients attending the centers since 01 January 2000 and regularly followed until 31 December 2009 or death. For each patient, we retrieved serum ferritin (SF) and total hemoglobin (Hb) levels for every year during the 10-year follow up period, and calculated the average SF and total Hb levels during the study period (10-year indices). Moreover, we retrieved data on the incidence of nine pre-defined morbidities during the study period. Data on splenectomy status was also retrieved. For this preliminary...

Research paper thumbnail of A Multicenter, Randomized, Open-Label Trial Evaluating Deferasirox Compared with Deferoxamine for the Removal of Cardiac Iron in Patients with β-Thalassemia Major and Iron Overload (CORDELIA)

Blood, 2012

2124 Background: Without effective iron chelation therapy (ICT), patients with transfusional iron... more 2124 Background: Without effective iron chelation therapy (ICT), patients with transfusional iron overload are at risk of excess iron-related cardiac complications. Cardiac iron accumulation can be measured using T2* magnetic resonance (normal >20 ms, high risk <10 ms). There are few randomized controlled trials assessing ICT for cardiac iron removal. CORDELIA is a Phase II, multinational, randomized comparison of efficacy and safety of 1-yr treatment with deferasirox or deferoxamine (DFO). Primary objective was non-inferiority of deferasirox vs DFO for cardiac iron removal after 1 yr. Methods: Patients with β-thalassemia major, cardiac T2* 6–20 ms, no clinical symptoms of cardiac dysfunction, aged ≥10 yrs, history of ≥50 transfusions, left ventricular ejection fraction (LVEF) ≥56% and liver iron concentration (LIC) ≥3 mg Fe/g dry weight (dw) were recruited. Patients were randomized to an intensified DFO regimen with a target dose of 50–60 mg/kg/d sc for 8–12 hrs, 5–7 d/wk, or...

Research paper thumbnail of A Randomized Trial of Factor VIII and Neutralizing Antibodies in Hemophilia A

New England Journal of Medicine, 2016

The authors' full names, academic degrees, and affiliations are listed in the Appendix. Address r... more The authors' full names, academic degrees, and affiliations are listed in the Appendix. Address reprint requests to Dr.

Research paper thumbnail of Effects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload

Blood, 2015

Key Points DFX-DFO combination followed by DFX monotherapy led to a meaningful decrease in myocar... more Key Points DFX-DFO combination followed by DFX monotherapy led to a meaningful decrease in myocardial and liver iron in severe siderosis patients. Substantial liver iron reduction may be helpful in patients needing rapid control of liver iron (eg, pretransplant or planned pregnancy).

Research paper thumbnail of Prevalence and distribution of iron overload in patients with transfusion‐dependent anemias differs across geographic regions: results from the CORDELIA study

European Journal of Haematology, 2015

ObjectivesThe randomized comparison of deferasirox to deferoxamine for myocardial iron removal in... more ObjectivesThe randomized comparison of deferasirox to deferoxamine for myocardial iron removal in patients with transfusion‐dependent anemias (CORDELIA) gave the opportunity to assess relative prevalence and body distribution of iron overload in screened patients.MethodsPatients aged ≥10 yr with transfusion‐dependent anemias from 11 countries were screened. Data were summarized descriptively, overall and across regions.ResultsAmong 925 patients (99.1% with β‐thalassemia major; 98.5% receiving prior chelation; mean age 19.2 yr), 36.7% had myocardial iron overload (myocardial T2* ≤20 ms), 12.1% had low left ventricular ejection fraction. Liver iron concentration (LIC) (mean 25.8 mg Fe/g dw) and serum ferritin (median 3702 ng/mL) were high. Fewer patients in the Middle East (ME; 28.5%) had myocardial T2* ≤20 ms vs. patients in the West (45.9%) and Far East (FE, 40.9%). Patients in the West had highest myocardial iron burden, but lowest LIC (26.9% with LIC <7 mg Fe/g dw) and serum fe...

Research paper thumbnail of Early Detection of Right Ventricular Diastolic Dysfunction by Pulsed Tissue Doppler Echocardiography in Iron Loaded Beta Thalassemia Patients

Pediatric Cardiology, 2014

Early heart iron overload in beta thalassemia major patients can be quantified through T2* cardio... more Early heart iron overload in beta thalassemia major patients can be quantified through T2* cardiovascular magnetic resonance (CMR). To clarify the value of tissue Doppler imaging (TDI) in early detection of myocardial dysfunction in iron loaded thalassemia patients diagnosed by CMR. Two groups were included in the study; Group I: 69 asymptomatic thalassemia patients (28 females, 41 males), mean age 18.1 ± 7.03 years (range 6-39 years); Group II (n = 41) healthy normal controls matched for age and sex. Serum ferritin and CMR were performed to assess the cardiac siderosis (T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 20 ms). Group I was subdivided into two subgroups; Group Ia (n = 26) T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 20 ms and Group Ib (n = 43) T2* &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; 20 ms. Conventional and Doppler echocardiography of LV, RV dimensions and functions and pulmonary artery pressure were evaluated. Right ventricular diastolic function assessed by tricuspid annular E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; was positively correlated with T2* value; lower tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; ratios were correlated with lower T2* values (r = 0.366, P = 0.002). Tricuspid annular A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; was significantly higher in group Ia compared to group Ib (16.7 ± 5.2 vs 12.1 ± 4.0 cm/s, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). Tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 1 was common in group Ia compared to group Ib (19/26 (73.0) vs 3/43 (6.97%), P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). By multivariate analysis, right ventricular diastolic dysfunction (tricuspid E&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;/A&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 1) was associated with serum ferritin and T2* level of the thalassemia patients. TDI is a promising tool for quantitative assessment of myocardial function and early detection of right ventricular diastolic dysfunction in iron loaded beta thalassemia major patients.

Research paper thumbnail of Prenatal diagnosis for thalassaemia in Egypt: what changed parents' attitude?

Research paper thumbnail of The effect of reducing repetition time TR on the measurement of liver R2 for the purpose of measuring liver iron concentration

Magnetic Resonance in Medicine, 2010

The effects of reducing the pulse repetition time from 2500 ms to 1000 ms when using spin-density... more The effects of reducing the pulse repetition time from 2500 ms to 1000 ms when using spin-density-projection-assisted R2magnetic resonance imaging for the purpose of measuring liver iron concentration were evaluated. Repeated liver R2 measurements were made using both protocols on 60 subjects with liver iron concentrations ranging from 0.5 to 48.6 mg Fe (g dry tissue) 21. The mean total scan time at repetition time 1000 ms was 42% of that at repetition time 2500 ms. The repeatability coefficients for the two protocols were not significantly different from each other. A systematic difference in the measured R2 using each protocol was found indicating that an adjustment factor is required when one protocol is used to replace the other. The 95% limits of agreement between the two protocols were not significantly different from their repeatability coefficients indicating that the protocols can be interchanged without any significant change in accuracy or precision of liver iron concentration measurement. Magn Reson Med 000:000-000, 2010. V

Research paper thumbnail of Intrafamilial Transmission of Hepatitis C Infection in Egyptian Multitransfused Thalassemia Patients

Journal of Tropical Pediatrics, 2013

Objective: Detecting the current prevalence of hepatitis C virus (HCV) among Egyptian multitransf... more Objective: Detecting the current prevalence of hepatitis C virus (HCV) among Egyptian multitransfused thalassemic patients and evaluating the risk of its transmission within their family members. Methods: Multitransfused Egyptian thalassemia patients (n ¼ 137) were tested for HCV infection. Household contacts of positive members were compared with household contacts of HCV-negative patients. Antibodies to HCV were detected by enzyme immunoassay. Antibody-positive cases were retested for viral load using reverse transcriptase polymerase chain reaction. HCV genotyping was performed on positive samples of the patients and the positive household contacts. Results: In all, 34.4% of patients (n ¼ 47) were positive for HCV antibodies and RNA. The study of 24 families of HCV-positive patients showed 14 affected family members (19.2%). In 27 families of HCVnegative patients, four family members were affected (4.9%). HCV genotyping of seven families was similar in both patients and their family members. Conclusion: Our results support the role of intrafamilial transmission in the spread of HCV.