Myocardial siderosis in thalassemia major remains the leading cause of death in developing countries. Once heart failure develops, the outlook is usually poor with precipitous deterioration and death. Cardiovascular magnetic resonance (CMR) can measure cardiac iron deposition directly using the magnetic relaxation time T2*. This allows earlier diagnosis and treatment and helps to reduce mortality from this cardiac affection. This study aims to determine the prevalence of cardiac siderosis in Egyptian patients who are heavily iron loaded and its relation to liver iron concentration, serum ferritin, and left ventricular ejection fraction. Eighty-nine β-thalassemia patients receiving chelation therapy (mean age of 20.8 ± 6.4 years) were recruited in this study. Tissue iron levels were determined by CMR with cardiac T2* and liver R2*. The mean ± standard deviation (range) of cardiac T2* was 28.5 ± 11.7 ms (4.3 to 53.8 ms), the left ventricular ejection fraction (LVEF) was 67.7 ± 4.7 % (55 to 78 %), and the liver iron concentration (LIC) was 26.1 ± 13.4 mg Fe/g dry weight (dw) (1.5 to 56 mg Fe/g dw). The mean serum ferritin was 4,510 ± 2,847 ng/ml (533 to 22,360 ng/ml), and in 83.2 %, the serum ferritin was >2,500 ng/ml. The prevalence of myocardial siderosis (T2* of <20 ms) was 24.7 % (mean age 20.9 ± 7.5 years), with mean T2* of 12.7 ± 4.4 ms, mean LVEF of 68.6 ±5.8 %, mean LIC of 30.9 ± 13 mg Fe/g dw, and median serum ferritin of 4,996 ng/ml. There was no correlation between T2* and age, LVEF, LIC, and serum ferritin (P = 0.65, P = 0.085, P = 0.99, and P = 0.63, respectively). Severe cardiac siderosis (T2* of <10 ms) was present in 7.9 %, with a mean age of 18.4 ± 4.4 years. Although these patients had a mean T2* of 7.8 ± 1.7 ms, the LVEF was 65.1 ± 6.2 %, and only one patient had heart failure (T2* of 4.3 ms and LVEF of 55 %). LIC and serum ferritin results were 29.8 ± 17.0 mg/g and 7,200 ± 6,950 ng/ml, respectively. In this group of severe cardiac siderosis, T2* was also not correlated to age (P = 0.5), LVEF (P = 0.14), LIC (P = 0.97), or serum ferritin (P = 0.82). There was a low prevalence of myocardial siderosis in the Egyptian thalassemia patients in spite of very high serum ferritin and high LIC. T2* is the best test that can identify at-risk patients who can be managed with optimization of their chelation therapy. The possibility of a genetic component for the resistance to cardiac iron loading in our population should be considered.

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* < 20 ms). Group I was subdivided into two subgroups; Group Ia (n = 26) T2* < 20 ms and Group Ib (n = 43) T2* > 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'/A' was positively correlated with T2* value; lower tricuspid E'/A' ratios were correlated with lower T2* values (r = 0.366, P = 0.002). Tricuspid annular A' was significantly higher in group Ia compared to group Ib (16.7 ± 5.2 vs 12.1 ± 4.0 cm/s, P < 0.001). Tricuspid E'/A' < 1 was common in group Ia compared to group Ib (19/26 (73.0) vs 3/43 (6.97%), P < 0.001). By multivariate analysis, right ventricular diastolic dysfunction (tricuspid E'/A' < 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.

Elevation of echocardiography-determined tricuspid regurgitant jet velocity (TRV) predicts high systolic pulmonary artery pressure. The present study tested the hypotheses that elevated tricuspid regurgitant jet velocity is associated with both hemolysis and hypoxia and abnormal 6-min walk test (6MWT) results. This study aims to correlate elevated TRV with different clinical laboratory findings and 6MWT and to find the independent predictors of increased TRV. A prospective study of 80 patients aged 5-25 years old with sickle cell disease (SCD) under basal conditions and 40 matched controls was conducted. Hemolytic analysis was assessed by the levels of lactate dehydrogenase, serum bilirubin, and reticulocyte count. Oxygen saturation determination using pulse oximeter and 6MWT were done. The overall prevalence of elevated TRV (≥2.5 m/s) was 28.75 %. Associated risk factors were older age (r = 0.28, p = 0.01), longer duration of disease (r = 0.25, p = 0.025), higher reticulocytic count (r = 0.344, p = 0.002), lower O2 saturation (r = -0.574, p = 0.0001), and shorter walked distance in 6MWT (r = -0.75, p = 0.0001). By multivariate logistic analysis, only the distance walked during 6MWT was the independent correlate of elevated TRV (odds ratio = 0.85; 95 % CI = 0.74 to 0.98 p = 0.033). The study provides evidence for independent association of TRV with abnormal 6MWT results. The 6-min walk test can be used as noninvasive adjuvant tool for functional capacity assessment of SCD patients with elevated TRV.

Objective: Early identification of sickle nephropathy via renal doppler sonography among sickle cell disease patients so as to help in early diagnosis and interventions to prevent progression to end-stage renal disease. Methods: 45 SCD children were included along with 45 healthy control children. Renal doppler sonography (PI and RI) was performed to all subjects. Doppler indices (Resistance Index and pulsatility index) were of value to assess reno-vascular changes in SCD. Laboratory investigations were done: Hb electrophoresis, complete blood picture with blood indices, reticulocytic count, liver enzymes (ALT and AST), HCV serology, serum ferritin and lactate dehydrogenese (LDH). Results: The study group consisted of 45 SCD patients, 27 (60%) males with mean age 12 years (± 3 years). By performing renal doppler sonography, it was found that all study group had significantly higher doppler indices (Resistivity index and pulsatility index) compared to the control group. Results of renal doppler sonography revealed, Main renal pulsatility index was positively correlated with main renal resistance index (r=0.454, p=0.002). Conclusion: Roc curve showed that Main Renal Artery Pulsatility index and resistance index index could act as a predictor for sickle cell nephropathy with high sensitivity values. Otherwise, renal doppler indices didn’t show statistically significant correlation with the other studied variables.