الفهرس 
DIAMOND-BLACKFAN ANEMIAOnly 14 pages are availabe for public view
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Abstract
Background: chronic iron overload is a known complication with repeated blood transfusion. Whether there is a difference in the rate of iron accumulation in transfusion dependent Diamond-Blackfan anemia (DBA) compared to other types of transfusion dependent anemias mainly β-thalassemia major (BTM) is not previously studied. Objective: to assess the iron overload status using serum ferritin and magnetic resonance T2* imaging in transfusion dependent DBA patients as compared to patients with BTM. Methods: Twenty-two patients with DBA were recruited from the Hematology-Clinic, Ain Shams University Children’s Hospital in addition to 27 BTM patients serving as control group. All were subjected to clinical assessment and laboratory investigations including CBC, liver functions and serum ferritin. For patients with more than 20 times blood transfusions, cardiac and hepatic iron loading was quantified by means of MRI T2*. Results: For DBA patients, the mean age at diagnosis was 6.1 ± 3.9 months, male: female ratio was 2.1:1. Consanguinity was found among 13 (59.1%) parents, family history of DBA and malignancy in 4 (18.2%) patients each. Cardiac, renal and bone anomalies were found in 5(22.7%), 3 (13.6%) and 1 (4.5%) patients respectively. Six (28.6%) patients showed response to steroid therapy while 15 (68%) patients were transfusion dependent. Sixteen (72.7%) patients received chelation therapy either as monotherapy 6(27.2%) or as combination therapy 10 (45.5%) patients. The mean ALT and serum ferritin were elevated 112.1 ± 129.5 IU/L and 2667.5 ± 2937 ng/dL respectively. Thirteen patients had MRI assessment, 9/13 (69%) had liver iron overload (mean LIC 15.3 ± 7.7 mg/g), while only 1/13 (7.7%) showed increased cardiac iron. LIC positively correlated with serum ferritin (r= 0.5, P=0.001) and ALT (r=0.39, P= 0.013) but not with other measured parameters including age at diagnosis and first transfusion, transfusion index and CBC parameters, while MRI heart did not show correlation with any of these parameters. There was no significant difference between transfusion dependent DBA and BTM groups when comparing age at first transfusion (6.87±7.4 months versus 7.48±2.6 months, P=0.697), frequency of transfusion (4.47±2.4 weeks versus 4.93±3.3 weeks, P=0.638), mean pretransfusion Hb (7.50±2.7 g/dL versus 6.93±0.6 g/dL, P=0.112), serum ferritin (3675.3±3070 ng/mL versus 3024.9±2829.2 ng/mL, P = 0.492), cardiac and hepatic iron overload status as assessed by MRI T2* (25.52±5.81 ms versus 30.39±13.38 ms, P=0.219) and (14.43±8.04 mg/g versus 13.70±9.86 mg/g, P=0.819) respectively. Conclusion: Children with transfusion dependent DBA suffer tissue iron overload in a pattern comparable to BTM patients.