Egyptian Journal of Haematology最新文献

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Prognostic significance of activin A in adult Egyptian patients with acute lymphoblastic leukemia 激活素A在埃及成年急性淋巴细胞白血病患者中的预后意义
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_75_21
M. Azzazi, Hany Abd-Allah Hegab, A. El-Ghammaz, V. Shawky, Heba Hafez, R. Helal
{"title":"Prognostic significance of activin A in adult Egyptian patients with acute lymphoblastic leukemia","authors":"M. Azzazi, Hany Abd-Allah Hegab, A. El-Ghammaz, V. Shawky, Heba Hafez, R. Helal","doi":"10.4103/ejh.ejh_75_21","DOIUrl":"https://doi.org/10.4103/ejh.ejh_75_21","url":null,"abstract":"Background Activin A belongs to the transforming growth factor-beta superfamily of cytokines that exert a plethora of biological functions, including developmental differentiation, sex determination, control of cellular proliferation, migration, and immune responses. Activins are dimeric glycoproteins that play a significant role in reproduction and in endocrine-active tumors, although inhibins and activins have primarily been described in human gonads and identified as modulators of follicle-stimulating hormone production of the pituitary gland, they have also been detected in several solid tumor types, including endocrine-responsive endometrial, ovarian, and breast carcinomas. Their differential expression has suggested their important role in malignant cell transformation, as well as possible roles in cancer differentiation, proliferation, and growth tumors. Aim The aim was to assess expression of activin A in the serum of adult patients with acute lymphoblastic leukemia (ALL) and its influence on remission and survival of ALL patients. Patients and methods Serum activin A was measured using enzyme-linked immunosorbent assay in 30 ALL patients recruited from Hematology and Bone Marrow Transplantation Unit, Ain Shams University Hospitals, and followed for 1 year in comparison with 15 healthy controls. Results Serum level of activin A was elevated in ALL patients in comparison with the control group with a statistically significant difference (P<0.001). A statistically significant negative correlation was detected between age of the patients and activing-A level (P=0.035). The comparison between different outcomes of the patients (remitted, relapsed, and died patients) above and below the mean level of activin A (265.667 ng/ml), was statistically significant (P<0.001). A statistically significant negative correlation was detected between activing-A level in ALL patients and overall survival (P<0.001), and by using the log-rank test, a statistically significant difference (P<0.001) was detected in ALL patients above and below the mean level of activin A. However, a statistically nonsignificant difference was detected between the mean activing-A level in Philadelphia chromosome-positive patients and Philadelphia chromosome-negative patients (P=0.839). Conclusion Activin A can be a useful poor prognostic biomarker in ALL patients, also, it can be used as a predictor for aggressiveness of the disease, resistance, and survival.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"58 - 65"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44727627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extended red blood cell phenotyping among regular donors in Fayoum, Egypt. Red Blood Cell Inventory Plan 埃及法尤姆市普通献血者红细胞表型的扩展。红细胞库存计划
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_7_23
A. Abdelrazik, H. Abdelaziz
{"title":"Extended red blood cell phenotyping among regular donors in Fayoum, Egypt. Red Blood Cell Inventory Plan","authors":"A. Abdelrazik, H. Abdelaziz","doi":"10.4103/ejh.ejh_7_23","DOIUrl":"https://doi.org/10.4103/ejh.ejh_7_23","url":null,"abstract":"Background Antibodies to clinically significant red cell antigens contribute to hemolytic transfusion reactions and hemolytic disease of fetus and newborn. The aim of the study was to estimate the prevalence of extended red cell antigen phenotypes among regular donors in Fayoum, Egypt, and to create an emergency model database for chronic transfusion patients. Similar data in Egypt is rare to find in the literature. Patients and methods The study was carried out over 1 year from December 2020 until November 2021in Fayoum University Hospital Blood Bank. In all, 1834 healthy known blood donor samples were analyzed for major Rh phenotypes (D, C, c, E, e) and for other clinically significant systems including Kell, Kidd, MNS, and Duffy. Results Phenotypic frequencies of Rh system were D+ (84.4%), e+ (79.6%), and C+ (63.9%). The K antigen frequency was 4.3%, Jka 79.4%, Jkb 62.37%, Fy a 33.2%, Fy b 44.4%, M antigen 88%, N antigen 38.6%, and the S and s antigens 48.2 and 85.3%, respectively. Conclusion Determination of red cell antigen phenotyping in Fayoum, Egypt, plays an important role in setting a routine phenotyping strategy for multiple transfused patients by keeping the donor database for rare phenotypes to prevent hemolytic transfusion reaction.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"9 - 12"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46871631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and prognostic effect of MYC protein score in patients with diffuse large B-cell lymphoma in relation to blood group secretor status MYC蛋白评分对弥漫性大B细胞淋巴瘤患者的临床和预后影响与血型分泌状态的关系
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_1_21
M. Elgammal, Nadia Sadek, Hala Maghraby, M. Yahia, Maha Bakr Feissal, O. Balbaa
{"title":"Clinical and prognostic effect of MYC protein score in patients with diffuse large B-cell lymphoma in relation to blood group secretor status","authors":"M. Elgammal, Nadia Sadek, Hala Maghraby, M. Yahia, Maha Bakr Feissal, O. Balbaa","doi":"10.4103/ejh.ejh_1_21","DOIUrl":"https://doi.org/10.4103/ejh.ejh_1_21","url":null,"abstract":"Background Lymphoma is the most common blood cancer. Diffuse large B-cell lymphoma (DLBCL) is the most common form of NHL. In Egypt, It represents about 49% of NHL presenting to the National Cancer Institute (NCI), Cairo University. It is an aggressive lymphoma where multiple clinical and laboratory prognostic factors affect its clinical course. Aim The aim of the present study was to determine MYC protein score immunohistochemically and by using image optical density (IOD) in relation to secretor status in patients with DLBCL in order to extrapolate their clinical and prognostic impact. Method Thirty DLBCL patients were enrolled in this study during the period from Oct.1st, 2014 to Oct.1st, 2016 and 15 matched normal subjects as control. The follow up period for the patients was 24 months. A full medical history was taken together with laboratory analyses. Results According to our findings, a high significant relation was found between c-Myc score and IPI (p = 0.009). The mean IOD for Myc expression was statistically and significantly higher in patients with high IPI ((p = 0.001) at a cut off value of 50%) splenomegaly was higher among male patients, lymphocyte/monocyte ratio (LMR) was significantly lower in patients than in the control group and was associated with positive MYC protein expression with high scores (≥50%). Our study also confirmed that secretor status (B +ve) Lewis blood group phenotype carried a better prognosis, a higher overall survival associated and a lower MYC protein score. MYC protein in our patients was significantally correlation to β2M (r= 0.791), LDH (r= 0.697), IPI (r= 0.562) and IOD (r= 0.996). There was a significant negative correlation to Absolute Lymphocytic Count (ALC) (r= - 0.590) and LMR (r= - 0.694). Age, hemoglobin, TLC and platelet count did not show any significantt correlation to MYC protein. Conclusion Expression Determination of MYC scoring and secretor state are highly recommended at the initial evaluation of DLBCL patients.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"72 - 81"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49575931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics of TP53 mutation in adult precursor B-cell acute lymphoblastic leukemia 成人前体B细胞急性淋巴细胞白血病TP53突变特征
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_92_22
H. Samy, Dina Fouad, Basma Ali, Hend Attia
{"title":"Characteristics of TP53 mutation in adult precursor B-cell acute lymphoblastic leukemia","authors":"H. Samy, Dina Fouad, Basma Ali, Hend Attia","doi":"10.4103/ejh.ejh_92_22","DOIUrl":"https://doi.org/10.4103/ejh.ejh_92_22","url":null,"abstract":"Objectives TP53 is the most intensively studied gene in cancer. However, data on the frequency and prognostic significance of TP53 mutations in acute lymphoblastic leukemia (ALL) are still lacking. This study aimed to determine the characteristics of TP53 mutation, its correlation with clinical and laboratory parameters and other cytogenetic alterations, and their impact on patient outcome on day 21 after induction therapy. Patients and methods This is a prospective cohort clinical study that was conducted on 41 de-novo adult ALL patients, who presented to the Hematology/Oncology Unit of Ain-Shams University Hospitals, where all studied patients were subjected to the treatment regimen. TP53 mutation was investigated in 41 patient samples using the RT-PCR. Results TP53 mutation was detected in 19.5% of studied cases. A highly significant association was detected between 17P deletion and TP53 mutation (P<0.0001). A significant association was detected between TP53 mutation and abnormal karyotyping (P=0.032). The authors found a clear association between TP53 mutation and hypodiploidy (P=0.001) and MYC rearrangements (P=0.001). In contrast, TP53 mutation was clearly underrepresented in ALL patients with t(9;22)(q34;q11). A highly significant association between TP53 mutation and the poor outcome on day 21 (P=0.002) was observed. The patients with TP53 mutation revealed either failure of remission (50%) or incomplete remission (50%). Logistic regression analysis of factors influencing the patient outcome showed that advanced age (>34 years), high total leukocyte count (>40 × 109/l), and abnormal fluorescence in-situ hybridization and karyotyping results due to cytogenetic abnormalities are independent predictors of poor outcome with failure of induction of complete remission on day 21. Conclusion TP53 alterations strongly identify high-risk adult precursor B-ALL patients with poor outcome in this study; yet, this needs further investigation on a larger sample size with a longer follow-up. Investigations of TP53 mutation especially in adult B-cell ALL (accounting 75% of adult ALL) may help with the selection of patients in need of intensive therapeutic strategy or may help with designation of new innovative targeted therapies.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"13 - 18"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47964298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peripheral blood lymphocyte subset count in COVID-19 patients COVID-19患者外周血淋巴细胞亚群计数
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_3_22
D. Shahin, M. Mortada, N. Abousamra, Nadia El Menshawy, Ahmed Hasan, Noha Eisa, S. El-Ashwah, Z. Emarah, Marwa O Elmaria, Mostafa Bakeer, Ahmed Saleh, Mayada A. Ghannam
{"title":"Peripheral blood lymphocyte subset count in COVID-19 patients","authors":"D. Shahin, M. Mortada, N. Abousamra, Nadia El Menshawy, Ahmed Hasan, Noha Eisa, S. El-Ashwah, Z. Emarah, Marwa O Elmaria, Mostafa Bakeer, Ahmed Saleh, Mayada A. Ghannam","doi":"10.4103/ejh.ejh_3_22","DOIUrl":"https://doi.org/10.4103/ejh.ejh_3_22","url":null,"abstract":"Background: (COVID-19) pathophysiology and the predictive factors are not fully understood, but lymphocyte dysregulation appears to play a role. Aim and Objectives: To explore the clinical value of lymphocyte subset changes in COVID-19 patients’ peripheral blood, which may illustrate the pathogenesis of COVID-19. Methods: This is prospective cohort study of 73 hospitalized patients with confirmed COVID-19 who were classified into two groups: non-severe and severe. Lymphocyte subsets (CD3, CD4, CD8, CD19, and CD56) were assessed using flow cytometry. Results Lymphocyte gate, CD3, CD4, CD8, and CD56 counts were significantly reduced in severe cases compared with nonsevere cases (P0.001, 0.006, 0.016, 0.011, and 0.008 respectively). Patients were divided into two groups according to cut off age (<50 and ≥ 50years) and (NLR) (NLR <4.14 and NLR ≥ 4.14). There was a significant difference in severe illness probability in two groups P0.001 and 0.001 respectively). Then, patients were divided into four groups by both NLR cutoff and age, There also significant difference in severe illness probability between four groups (P<0.001). Conclusion Based on our data, management of patients with COVID-19 pneumonia can be improved based on NLR and age model. We suggest that patients with NLR ≥ 4.14 should be admitted to isolation ward with close follow-up and actively transfer to intensive care unit.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"28 - 36"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43568024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical significance of serum prohibitin in chronic myeloid leukemia patients on first-line tyrosine kinase inhibitors 慢性髓系白血病一线酪氨酸激酶抑制剂患者血清禁止素的临床意义
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_57_21
Heba Yassin, Mohamed Azaazi, Hany Hegab, Nermine Nabih, N. Rakha, M. Naguib
{"title":"Clinical significance of serum prohibitin in chronic myeloid leukemia patients on first-line tyrosine kinase inhibitors","authors":"Heba Yassin, Mohamed Azaazi, Hany Hegab, Nermine Nabih, N. Rakha, M. Naguib","doi":"10.4103/ejh.ejh_57_21","DOIUrl":"https://doi.org/10.4103/ejh.ejh_57_21","url":null,"abstract":"Background Prohibitin is a widely expressed intracellular protein that is distributed in various compartments, where they exert different biological functions accordingly. Prohibitins have displayed both protumorigenic and antitumorigenic roles in cancer formation. Depending on the type of cancer and the localization of prohibitin, studies have shown that it exerts a different biological role. Aim This study aims to investigate prohibitin level in Egyptian patients with chronic myeloid leukemia (CML) and to evaluate its correlation with disease activity and response to first-line tyrosysine kinase inhibitor treatment. Patients and methods Prohibitin level was measured using enzyme-linked immunosorbent assay in 80 CML patients in the chronic phase. They were recruited from the clinical hematology division of Internal Medicine Department, Ain Shams University Hospitals. They were matched to 10 healthy volunteers as a control group. Results In our study, we have demonstrated that prohibitin levels were significantly higher in patients with CML than in the control participants (P=0.002). Prohibitin levels were significantly higher in CML patients with an active disease status (P=0.001). In addition, significantly higher levels of prohibitin in CML patients were associated with poor response to first generation TKIs (P=0.001). Receiver-operating characteristic curve was applied. A serum level of prohibitin higher than 289 is a good predictor for poor response to first generation TKIs as per response assessment by PCR for BCR-ABL (area under the curve=0.67, sensitivity and specificity 58.33 and 80.56, respectively). Conclusion Prohibitin is overexpressed in CML patients and has a possible impact on disease activity and response to treatment in CML patients that warrants further investigations.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"55 - 57"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41341913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of platelet storage on complement activation 血小板储存对补体激活的影响
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_53_21
Amal Mahmoud, Maha Mohamed, Shimaa Ahmed, Mariam Abdallah
{"title":"Effect of platelet storage on complement activation","authors":"Amal Mahmoud, Maha Mohamed, Shimaa Ahmed, Mariam Abdallah","doi":"10.4103/ejh.ejh_53_21","DOIUrl":"https://doi.org/10.4103/ejh.ejh_53_21","url":null,"abstract":"Background Many specialists involved in patient care, from laboratory personnel to clinical physicians, are interested in platelet transfusion. In the field of transfusion medicine, the complement cascade is crucial. The study aimed to detect the complement levels of platelet-rich plasma to see whether there was a risk of transfusion of stored platelets. Study design and methods For 5 days, 10 U of platelet-rich plasma were stored on a platelet rotator at a temperature of 22–24°C. On days 0 (baseline), 3, 4, and 5, samples were taken using a sterile technique. C3a and C4d were tested as complement components to evaluate the level of complement activation. Both the platelet count and culturing were performed on the same day. Results Both C3a and C4d were insignificantly elevated over storage time up to day 5 compared with day 0 (baseline sample). Throughout the storage days, the platelet count decreased significantly. Culture had no significant impact. Conclusion Our findings show that under standard storage conditions, platelet storage had minimal complement activation or contamination, but with a significant decrease in platelet count.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"66 - 71"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47449089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictive factors of response to eltrombopag and romiplostim in Egyptian immune thrombocytopenia patients: a single center experience 埃及免疫性血小板减少症患者对依曲巴格和罗米普洛斯汀反应的预测因素:单中心经验
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_30_23
D. E. El Demerdash, Nagham Mohamady, Wafaa Abdelghany, H. Youssef
{"title":"Predictive factors of response to eltrombopag and romiplostim in Egyptian immune thrombocytopenia patients: a single center experience","authors":"D. E. El Demerdash, Nagham Mohamady, Wafaa Abdelghany, H. Youssef","doi":"10.4103/ejh.ejh_30_23","DOIUrl":"https://doi.org/10.4103/ejh.ejh_30_23","url":null,"abstract":"Background Thrombopoietin receptor agonists (TPO-RA) are a well-established treatment in patients with immune thrombocytopenia (ITP). Predictors of response to some lines of treatment in ITP have been reported; yet, to date there are no predictors of response to TPO-RA were identified. We aimed to identify predictive factors of response to TPO-RA in adult ITP patients to avoid unwanted adverse effects and to individualize the treatment. Patients and methods We investigated demographic features, clinical-laboratory data as well as previous lines of treatment in 48 adult ITP patients who received TPO-RA for at least 3 months duration to detect reliable predictive factors of response to TPO-RA, in addition, health-related quality of life and fatigue burden was assessed in all studied ITP patients using 2 questionnaires which are 36-item short-form health survey and functional assessment of chronic illness therapy. Results The percentage of platelet change from days 0 to 28 of initiation of romiplostim can be a predictive factor of response to treatment with romiplostim (P=0.008) but none of the other studied factors has influenced response to TPO-RA. Both 36-item short-form health survey domains, as well as functional assessment of chronic illness therapy questionnaires had no statistically significant difference between the romiplostim and eltrombopag groups. Conclusion Slow or minimal change of platelet count during the first month of therapy with romiplostim could be used as a predictive factor of no response to romiplostim in ITP patients; In addition, none of the demographic features, initial clinical-laboratory features, previous lines of treatment with splenectomy or rituximab, or even the number of previous lines of therapy have influenced response to TPO-RA.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"88 - 94"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46701140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of platelet glycoprotein IIIa polymorphism as a risk factor for acute ischemic stroke in Egyptian patients 血小板糖蛋白IIIa多态性与埃及患者急性缺血性脑卒中的相关性
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_6_22
Dohaa Saad, Fadia M. Attia, Ahmed Hosney, Mohamed El samahy, Mohamed Abdelhamid, Gehan Ibrahim
{"title":"Association of platelet glycoprotein IIIa polymorphism as a risk factor for acute ischemic stroke in Egyptian patients","authors":"Dohaa Saad, Fadia M. Attia, Ahmed Hosney, Mohamed El samahy, Mohamed Abdelhamid, Gehan Ibrahim","doi":"10.4103/ejh.ejh_6_22","DOIUrl":"https://doi.org/10.4103/ejh.ejh_6_22","url":null,"abstract":"Context Association of genetic variants of platelet receptors and their inferences on cerebral stroke is a major concern. Aims The current study evaluates the genetic polymorphism of platelet GPIIIa as a risk factor in Egyptian patients with ischemic cerebrovascular stroke. Settings and design A total of 50 patients with ischemic stroke were recruited from the Neurology Department, in addition to 50 control individuals matching the study group in age and sex. Patients and methods Data were collected using an interview questionnaire, clinical and neurological examination, and laboratory assessment, which included hematological assessment, biochemical assessment, and molecular assessment of genotyping of GPIIIa polymorphism by PCR-RFLP technique using endonuclease restriction alongside Msp-I enzyme. Statistical analysis To compare control and study groups, independent t test in parametric data and Mann–Whitney for nonparametric data were used. Results Regarding GPIIIa (PlA2/A2) genotypic distribution of the studied groups, there was a statistically significant difference between patients with ischemic cerebrovascular stroke and controls. Dyslipidemia and platelet GPIIIa genotype showed the highest odds ratio. On binary regression analysis, the role of the platelet genotype as a risk factor of stroke development alone is maximized. In the copresence of other risk factors, its role is minimized. Conclusions The GPIIIa (PlA1/PlA2) polymorphism is a highly predictive and reliable biomarker for ischemic cerebrovascular stroke.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"47 - 54"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45505824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of HBG2, BCL11A, and HBS1L-MYB in early diagnosis of transfusion-dependent thalassemia among Egyptian children HBG2、BCL11A和HBS1L-MYB在埃及儿童输血依赖型地中海贫血早期诊断中的作用
Egyptian Journal of Haematology Pub Date : 2023-01-01 DOI: 10.4103/ejh.ejh_22_22
Howyda Shabaan, Saad Ahmed, Marwan Shalaby, Asmaa Fallah
{"title":"The role of HBG2, BCL11A, and HBS1L-MYB in early diagnosis of transfusion-dependent thalassemia among Egyptian children","authors":"Howyda Shabaan, Saad Ahmed, Marwan Shalaby, Asmaa Fallah","doi":"10.4103/ejh.ejh_22_22","DOIUrl":"https://doi.org/10.4103/ejh.ejh_22_22","url":null,"abstract":"Background Hereditary hemoglobinopathies are the most frequent diseases accountable to a single gene defect. Common mutations of the beta-globin gene are detected by PCR-based techniques. Objective To evaluate the role of HBG2, BCL11A, and HBS1L-MYB polymorphisms in addition to Thalassemia Severity Score (TSS) in the early diagnosis of transfusion-dependent thalassemia patients among Egyptian children and their impact on clinical decision. Patients and methods Thalassemia mutation analysis was performed by the Beta-Thal Modifier Strip Assay to determine the five polymorphisms associated with severity, and an automated online calculator (TSS). Results The transfusion-dependent group showed significantly higher TSS (P<0.001), with a sensitivity of 75%, specificity of 95%, positive predictive value of 93.8%, negative predictive value of 79.2%, and an accuracy of 85%. HBG2 CT and CC genotypes were significantly associated with younger age of first transfusion and higher transfusion rates. Deletion in alpha gene was significantly associated with TT genotype, followed by GG and then GT. TSS decreased gradually through wild, heterozygous, and homozygous rs7482144 and rs1427407 genotypes. Transfusion-free survival tends to decrease gradually with increased TSS severity (P<0.001). The HBS1L-MYB rs9399137 TC genotype was associated with poor transfusion-free survival by Cox regression analysis. Beta phenotype mild/mild, mild/severe, rs7482144 CT, TT, and rs1427407 GT, TT were associated with the protective effect against higher severity. Conclusion HBG2, BCL11A, and HBS1L-MYB have an important role in early diagnosis and prognosis of transfusion-dependent thalassemia among Egyptian children.","PeriodicalId":42139,"journal":{"name":"Egyptian Journal of Haematology","volume":"48 1","pages":"37 - 46"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45169667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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