Background: Iron overload in association with persistent anemia is responsible for endocrine dysfunction in β-thalassemia patients, blood transfusion combined with iron-chelation can modify life quality in these children, but they tend to suffer from delayed maturity and endocrine dysfunction. Aim: This study aims to correlate degree of hypogonadism to ferritin load in regular transfused β-thalassemia patients. Methods: It was carried out on 30 β-thalassemia major (TM) patients aged 12 to 18 years, puberty was assessed clinically, blood picture on Cell-Dyne 2700, ferritin level and pattern of FSH, LH, testosterone and estradiol before and after gonadotropin (GnRH) analogue stimulation test, they were determined on ARCHITECT ABBOTT system. Results: Twenty patients had not yet achieved puberty, FSH level was 1.45 ± 1.88 mIU/ml before (GnRH) analogue and 3.78 ± 4.19 mIU/ml after 4 hours of injection. LH level was 1.91 ± 4.79 mIU/ml before (GnRH) test, while after 4 hours it was 6.52 ± 7.50 mIU/ml, 88.24% of males had low serum testosterone level, 84.6% of girls had low serum estradiol level, FSH, LH, estradiol, testosterone before and after GNRH analogue were statistically insignificant, mean ferritin level was 3344.32 ± 1142.142 ng/ml, with insignificant correlation to hormonal pattern before and after GnRH therapy. Conclusion: Iron overload and hypogonadism are the presenting data in this study, insignificant correlation between ferritin level and hormonal reserve pattern, there may be another etiology in pathophysiology of low gonadal reserve such as severe anemia, chronic disease and may be genetic predisposition underlying susceptibility to iron toxicity, which need further investigations.

BackgroundThe tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p 53 gene mutations are the most frequent genetic event found in human cancers. Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS) with a leukemic propensity. P 53 DNA alteration has not been studied before in Egyptian children with FA.Patients and methodswe investigated p53 mutation in the bone marrow and peripheral blood of forty children, FA (n = 10), acquired aplastic anemia (AAA) (n = 10), and immune thrombocytopenia (ITP) as a control (n = 20), using real-time PCR by TaqMan probe assayResultsMutation of p53 gene was demonstrated in the BM of 90% (9/10) of children with FA, compared to 10% (1/10) in AAA (p < 0.001), while, no p53 DNA mutation was seen in the control group. A positive correlation between DNA breakage and presence of p53 mutation was seen in FA (p < 0.02, r0.81).Conclusionmutation of p53 gene in hypoplastic marrow especially FA may represent an early indicator of significant DNA genetic alteration with cancer propensity.

Background: acute ischemic stroke (AIS) remains the third cause of death and disability, and acute phase responses, both increasing international normalized ratio (INR) and activated partial thromboplastin time (APTT) are associated with worse outcome. Erythrocyte sedimentation rate (ESR) serves as severity marker, and non-fasting triglycerides (TG) indicates remnants of chylomicrons and very low density lipoproteins potentially pro-inflammatory. Aims: to design predictive economic panel evaluating AIS. Patients and methods: 100(AIS) patients were included, clinically evaluated by Scandinavian Stroke Scale (SSS) and Modified Rankin Score (MRS), subjected to complete blood count (CBC) on Cell-Dyne3700, manual ESR, INR and APTT on SYSMEX-CA1500, serum uric acid (SUA), serum albumin and non-fasting (TG) on Beckman Coulter AU480. Statistical analysis: STATA intercooled version 9.2. Results: odd ratio (OR), confidence interval (CI) of (MRS) in correlation to WBCs count in quartile (Q)3, 4 (OR 8.14, CI 2.29 -8.90, significant P = 0.01; and OD13.5, CI 3.39 -53.68, high significant P = 0.001 respectively), to APTT in Q3 (OD 4.15, CI 1.09 -15.82, P = 0.04), SUA in Q3 (OD 0.19, CI 0.05 -0.68, P = 0.01), TG in Q3,4 (OD 0.24 CI 0.06 -0.88, P = 0.03; and OD 0.09, CI 0.02 -0.34 P = 0.001 respectively) and serum albumin in Q3(OD 0.13, CI 0.04 -0.51, P = 0.003), insignificant correlations to ESR, INR and platelets. Conclusion: according to (MRS), the economic predictive panel should be included WBCs, APTT, SUA, and non-fasting TG with serum albumin as prognostic tool evaluating functional disability in AIS.

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Background: Acute lymphoblastic leukemia (ALL) is a hematologic malignancy which results from accumulation of lymphoid progenitor cells in the bone marrow and/or extramedullary sites. Philadelphia chromosome (Ph 1) positive ALL, a high-risk cytogenetic subset, accounts for 25%-30% of adult ALL cases but occurs in less than 5% of children. We aimed with this study to detect BCR-ABL genes fusion, amplification and deletion in ALL patients, using extrasignal-fluorescence in situ hybridization (ES-FISH), and to assess their relation with other standard prognostic factors and therapeutic response. Patients and Methods: This study was carried out on 39 newly diagnosed ALL patients. All patients were subjected to: history, clinical examination and laboratory investigations, which included complete blood count (CBC), peripheral blood (PB), bone marrow (BM) examination, immunophenotyping and fluorescence in situ hybridization using extra-signal probe to detect BCR-ABL genes fusion. Results: This study showed statistical analysis of patients' t(9; 22) with other factors revealed, significant association (p < 0.05) of t(9; 22) with patients outcome, age > 35 years, hepatosplenomegaly, absence of lymphadenopathy, TLC ≥ 50 × 10 9 /L, absolute PB blasts ≥ 4.4 × 10 9 /L, immunophenotyping and other aberrations. Conclusion: BCR/ABL fusion gene analysis by ES-FISH may serve as a prognostic marker in adulthood ALL. The age, TLC and t(9; 22) represent the significant standard prognostic factors in relation to patients' outcome.