Thalassemia is a wide range hereditary disease with high incidence in Egypt along with the high frequency of consanguineous marriages. Investigation the heterogeneity, molecular basis, and natural history are the most effective methods to deal with the thalassemia to develop effective method for management and prevention including the prenatal diagnosis. The current study aims to detect the most common β-globin gene mutations in Egypt among β-thalassemic patients by using PCR based reverse hybridization method (StripAssay) for the most prevalent 22 β-globin gene mutations in the mediterranean population in an attempt to estimate the incidence of each mutation, and an attempt to improve our control strategy of βthalassemia. This study included a total of 37 confirmed βthalassemia ethnic Egyptian patients (23 males and 14 females) out of them 17 patients were a thalassemia major and 20 were a thalassemia intermediate. Evaluation of β-thalassemia mutations revealed that, the presence of 9 different β-globin mutations. The most frequent mutation were IVS 1-110[34%], IVS 1-6(23.5%), IVS 1-1(19%), Codon 27[6.5%], IVS 2-848[6.5%], IVS 2-745[2.1%] and IVS 2.1 [2.5%], Codon 39[4%]), and IVS 1.5 [1.5%]. IVS 1-110[G>A] is the commonest homozygous mutation found in 6 out of 14 homozygous cases accounting for about 43% of homozygous mutations while, IVS 1-110[G>A]/ IVS 1-6[T>C] is the commonest heterozygous mutation found in 6 out of 23 heterozygous cases accounting for about 26% of heterozygous mutations. In conclusion,β-Globin Strip Assay is useful rapid screening method for β-globin gene mutations which can provide an insight into the detection of individual patients, to take the proper measurement, and thus could be used as a basis for genetic counseling and prenatal diagnosis.

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Some reports have suggested EBV to be a trigger agent for an autoimmune hepatitis, even EBV has been suspected as a probable cause of particular granulomas in the liver and even in a rare vanishing bile duct syndrome. This study aimed to evaluate CD19 + , CD23 + and CD24 + B-lymphocytes as biomarkers for EBV early diagnosis in EBV-liver disease patients. Subjects & Fifty subjects included in this work, grouped into: control group and EBV mono-infected patients' group. Immunophenotyping in peripheral blood samples was performed for CD19 + , CD23 + and CD24 + B-cells using flow cytometry technique. CD23 + B-cells frequency was the most significant (P <0.001) changed CD marker-among the estimated CDs-in EBV group versus control group (49.43±0.58 vs 21.18±1.10), respectively. Both CD19 + and CD23 + B-cells frequency correlate strongly with liver transaminases. Diagnostic performance of this panel of CD markers was obtained by applying receiver operating characteristic (ROC) curve analysis; CD23 + B-cell frequency was the most precise CD marker-of this panel-in distinguishing EBV cases from controls. The AUC of CD23 + B-cell frequency was 0.998, with sensitivity= 96% and specificity= 100% at cut-off value of 44.4%. Its NPV was ultimate (100%). On the other hand, CD19 + B-cells frequency did not show any response as diagnostic tool, and CD24 + B-cells frequency showed very little response in this context. CD23 + B-cell frequency has a strong correlation with liver transaminases which may mirrored the severity of the disease. Additionally, it may represent a promising co-biomarker with the currently used EBV-viral capsid antigen (EBV-VCA) antibodies for early EBV diagnosis.

Vaso-occlusion is the most signs and symptoms of sickle-cell anemia (SCA). Elevated Homocysteine concentration contributes to form thrombosis, a frequent event in sickle cell anemia. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme, which modifies homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are accompanied with a decreased activity of the enzyme. The aim of the study was to study the association between the A1298C polymorphism and the incidence of Vaso-occlusive crisis. A case-control study was conducted over a period of one year from Jan-Dec 2014 inclusive, 50 patients were collected together with age, and sex matched healthy control 30 cases. Venous blood samples were collected from groups to estimate serum Homocysteine, folic acid and A1298C polymorphism identification through tetra primer ARMS PCR. Statistical analysis was done, using the student t-test, Pearson correlation analysis and χ2 test. We found that, the homocysteine level was significantly upregulated in the patients group compared with control group with p value > 0.01. Moreover, a strong positive correlation between Homocysteine level and the frequency of Vaso-occlusive crisis was found (χ2= 4.836 and p value 0.04). Association between vaso-occlusive events and polymorphism frequency showed a non-significant difference for the A1298C gene (χ2 = 1.720; p = 0.4231). We conclude that Hyperhomocysteinaemia is positively correlated with the frequency of Vaso-occlusive crisis and the presence of A1298C MTHFR gene polymorphism is not a risk factor for vaso-occlusive crisis in the SCD patients.

Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA).Elevated concentration of Homocysteine contribute to thrombosis , a frequent event in sickle cell anemia . Folic acid deficiencies lead to dangerous increase in plasma Homocysteine.The aim of study is to test whether children with sickle cell anemia have elevated concentration of serum homocysteine with diminished level of folate, and to determine whether hyperomocysteinaemia has a correlation with the frequency of Vasoocclusive crisis. A case-control study was carried over a period of one year from Jan.-Dec. 2014 inclusive, 50 patients were collected from the Sickle cell centre in Abo Elresh Hospital together with healthy 30 cases, age and sex matched ,were taken from Menoufia Hospital.Venous blood sample were aspirated from both groups to estimate serum Homocysteine and folic acid, Statistical analysis was done, using the student T-test ( P. value < 0.05 is considered as statistically significant) . Pearson correlation analysis was performed. The mean and standrd deviation of age of the patients and controls was (6.20± 2.55) and (6.03 ± 2.64) respectively. 66% of patients were males . Sickle cell -Thalassemia constituted 64% of patients. Homocysteine level was significantly higher in the patients group compared with control group with a mean and standard deviation of (44.68 ± 9.096) and (18.81 ± 3.76)μmol/L respectively and p value > 0.01 . Folic acid level was lower, (12.02 ± 2.76) and (14.68 ± 2.99) ng/ml respectively, the results were statistically significant, P. value 0.02. Significant inverse correlation was found between Homocysteine folic acid with correlation coefficient -0.337 and p value 0.017. A strong positive correlation between Homocysteine level and the frequency of Vaso-occlusive crisis was found (× 2 4.836 and p value 0.04). We conclude that patients with sickle cell disease have high serum level of Homocysteine with low level of folic acid. This Hyperomocysteinaemia is positively correlated with the frequency of Vasoocclusive crisis.