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Since iron overload is the commonest cause of morbidity and mortality in β thalassemia major (β-TM), it represents one major target in therapeutic management of the disease. The recently discovered erythroid regulator, erythroferrone (ERFE), governed by high levels of erythropoietin, was found to suppress hepcidin expression, thus increasing iron availability for developing erythroid progenitors. We aimed to investigate ERFE levels in Egyptian β-TM patients as an attempt to understand its role in the prediction of iron overload states. Our study included 70 β-TM patients, divided into two subgroups according to the degree of iron overload, and 30 sex and age-matched healthy subjects. ERFE gene expression was analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and serum hepcidin was measured using enzyme-linked immunosorbent assay (ELISA) technique. Both ERFE gene expression levels and transferrin saturation (TS%) values were able to discriminate among cases with different degrees of iron overload, in contrast to hepcidin. TS% was acknowledged as the best predictor of iron overload (AUC 0.893) in comparison with serum hepcidin and ERFE gene levels (AUC 0.807 and 0.677, respectively), and ERFE gene expression was an independent predictor for the estimated TS%. In conclusion, we suggest that using the ERFE gene expression, combined with serum hepcidin estimation, can substantiate the role of estimated TS% as a promising tool in screening for iron overload in β-TM patients.

β-Thalassemia (β-thal) represents a major health problem worldwide and particularly in Egypt. Its prevention, compared to treatment, is cost-effective, possible and practical. In this study we evaluate a proposed paradigm for detection of the β-thal carrier state. The present study included 1627 children and adolescents of both sexes, presenting as outpatients to clinics of Ain-Shams University Hospitals, Cairo, Egypt, from November 1 2009 to June 30 2010. In the first phase, after performing a complete blood count (CBC), 280 microcytic hypochromic patients were selected. These cases were further analyzed by iron profile and high performance liquid chromatography (HPLC); in the second phase, hybridization detected 22 common β-globin mutations in 74.0% of the suspected cases. Thus, by HPLC, the Hb A2 level of3.5% provided 100.0% sensitivity, 70.0% specificity, 75.0% positive predictive value (PPV), 100.0% negative predictive value (NPV) and accuracy of 70.0% to identify β-thal trait and at a cut-off of 4.0%, it provided 97.4% sensitivity, 72.7% specificity, 92.6% PPV, 88.8% NPV and a diagnostic accuracy of 92%. High performance liquid chromatography is a reliable and cost effective primary screening tool for β-thal trait at a Hb A2 level of ≥4.0%, while molecular testing is mandatory only for selected cases with borderline Hb A2 values between 3.5 and 4.0%.

Background: The aim is to detect the prevalence and specificity of red cell allo-antibodies underlying pan reactive auto-antibodies in Egyptian AIHA patients Patients and Methods: Sixty multi-transfused Egyptian AIHA patients received 715 units of blood were studied during the period from February 2013 to November 2013. Initial antibody screening and identification (using pre-warming technique in cases of cold auto-antibodies), direct antiglobulin, auto-control and immediate spin, allogenic adsorption for patients` plasma then detection of possible underlying allo-antibodies were done. Results: Five patients with cold auto-antibodies were identified with absence of underlying allo-antibodies. From the 55 patients with warm auto-antibodies, 23 (41.8%) had allo-antibodies with a total number of 40 underlying allo-antibodies indicating that Egyptians carry the highest percentage of allo-antibodies compared to other studies. Conclusion: Red cell allo-immunization has a very high frequency among multi-transfused Egyptian AIHA patients.

Summary. Persistence of inhibitors against factor VIII (FVIII) may be a risk factor that increases physical disability in haemophilia A (HA) patients. This study aimed to evaluate prevalence of FVIII inhibitors in previously treated children with severe HA and the impact of persistent inhibitors on knee joint status and lumbar bone mineral density (BMD). Fifty children with severe HA, FVIII

Background Hypercoagulability in chronic hemolytic anemia, namely, β-thalassemia major (TM), β-thalassemia intermedia (TI), and sickle cell disease (SCD), is well recognized. Activation of coagulation results in thrombin formation which in turn is inactivated by complex formation with its major inhibitor thrombin antithrombin complex (TAT). As a result, TAT is considered a coagulation marker which confirms the hypercoagulability state. Aim The aim of this study was to measure TAT as a coagulation activation marker in patients with β-TM, β-TI, and SCD and to correlate TAT levels with their clinicolaboratory parameters. Patients and methods A total of 60 children and adolescents having β-thalassemia syndromes and SCD were recruited from pediatric hematology clinic, Ain Shams University. They underwent routine complete blood picture and hemolytic profile in addition to TAT. Results The TAT was significantly higher in all patients (164.13±42.47 µg/l) compared with controls (106.75±21. 35 μg/l). In the thalasssemia group, the TAT level was 156.45±42.71 µg/l, whereas in patients with SCD, it was 179.50±38.52 µg/l. On comparing patients with thalassemia and those with SCD, there was a significant difference (P Conclusion β-Thalassemia syndromes and SCD are associated with increased coagulation activity, and this activity is correlated with the level of hemolysis.