Results 121 to 130 of about 5,799 (244)

In vitro inhibition of BCL11A gene expression by RNAi for the Treatment of ?-Thalassemia

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Thalassemias are general genetic disorders in the Indian subcontinent. Thalassemia is a kind of genetic disorder of the blood that is passed from one generation to the other, exemplified by reduced or absent amounts of hemoglobin.
Vikas Urkude, Amit Mishra, Mahavir Yadav, Archana Tiwari   +3 more
doaj  

Development of HEK293T cell reference materials for β-thalassemia genetic testing using prime editing

Türk Biyokimya Dergisi
β-Thalassemias, caused by mutations in HBB, are hereditary blood disorders that impose a significant global health burden. Detecting these mutations through accurate genetic analysis is essential. This study aimed to create a panel of cell type reference
Ren Baoyan, Lu Jiahao, Tan Weihe, Lin Kangfeng, Xu Jingping, Zheng Yu, Xing Xingan, Zhou Qiaomiao   +7 more
doaj   +1 more source

Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq

Hematology
Background Thalassemias are genetic disorders of globin chain synthesis. In Iraq, β-thalassemia is more prevalent than α-thalassemia. This study identifies two unpredicted globin gene mutations, a rare α-globin gene mutation (Hb SKMC) and a novel γδβ ...
Rawand P. Shamoon, Amir Charkaneh, Elena Di Pierro, Milena Irrera, Cristina Curcio, Ahmed Yassin, Rozhgar A. Khailany   +6 more
doaj   +1 more source

Continuum of care after newborn screening for sickle cell disease: Multinational evidence from a systematic review and meta‐analysis

British Journal of Haematology, EarlyView.
Tanveer Rehman, Srijeeta Mitra, Kalpita Ganpat Gawit, Ravindra Kumar, Sritama Dutta, Ananya Anurakta Pattanaik, Lakhan Majhee, Tanu Anand, Manisha Madkaikar, Sanghamitra Pati   +9 more
wiley   +1 more source

Characterisation of RHD and RHCE variations in blood donors from Jazan Province, Southwestern Saudi Arabia

Transfusion Medicine, EarlyView.
Abstract Background and Objectives Rh is among the most important and highly polymorphic blood group systems due to the proximity of the RHD and RHCE genes, which encode numerous highly immunogenic antigens. However, in areas of Saudi Arabia with a high prevalence of hemoglobinopathy, the molecular characteristics of RHD and RHCE variations are lacking.
Maymoon M. Madkhali, Mayisah Khormy, Abdullah A. Meshi, Bandar Kameli, Khaled Ghazwani, Ohoud Sufyani, Salha Hakami, Yahya Khawaji, Abdullah A. Mobarki, Khaled Essawi, Waleed Hakami, Yara Alyahyawi, Aymen M. Madkhali, Gasim Dobie, Hassan A. Hamali   +14 more
wiley   +1 more source

What is the best approach to blood transfusion in sickle cell disease? A scientometric analysis and literature review

Transfusion Medicine, EarlyView.
Abstract Background Blood transfusion remains a cornerstone in the management of sickle cell disease (SCD); however, it is frequently complicated by red cell alloimmunisation. A significant debate persists within the scientific community regarding the optimal strategy to mitigate this risk: the traditional, pragmatic approach of serologic phenotyping ...
Christiane Ruffato Carminati, Lucas Fernandes Ananias, Saulo Fernando Moreira da Silva, Anna Cecília Dias Maciel Carneiro, Helio Moraes de Souza, Sarah Cristina Sato Vaz Tanaka, Fernanda Bernadelli De Vito   +6 more
wiley   +1 more source

Prevalence of hearing loss in patients with Beta thalassemia major, Hajar hospital of Shahrekord, 2002. [PDF]

, 2004
زمینه وهدف: تالاسمی یک کم خونی ارثی است که یکی از عوارض آن اختلالات گوش می باشد. این اختلال عمدتاً به صورت کاهش شنوائی (انتقالی یا حسی عصبی) تظاهر نموده و با بزرگی لوزه سوم، تراکم آهن و اثر سمی دسفرال در ارتباط می باشد. علیرغم آنکه با تغییر روشهای درمانی
Kargoshaie, A.A., Reissi, N.
core  

Emergence of red blood cell alloantibodies and transfusion management in patients with warm autoantibodies at a tertiary care centre in British Columbia, Canada

Vox Sanguinis, EarlyView.
Abstract Background and Objectives The presence of warm autoantibodies (WAAs) complicates pre‐transfusion and compatibility testing. Despite attempts to provide antigen‐matched red blood cells (RBCs), the risk of alloimmunization remains. Rates of alloimmunization and indications for transfusion were reviewed to streamline testing and RBC provision ...
S. Hutspardol, J. Mi, C. Denesiuk, D. Kalar, L. Sham, M. Roche, J. R. Tsu, D. Lam, M. T. S. Yan   +8 more
wiley   +1 more source

Is there an association of giardiasis with beta-thalassemia minor? [PDF]

, 2010
Beta–thalassemia minor is a symptomless carrier state of a hemoglobinopathy which predisposes to bacterial infections. We report three cases presenting with giardiasis, a parasitic infection of gastrointestinal tract caused by Giardia lamblia.
Jafri, Wasim, Shaikh, Hizbullah, Yakoob, Javed   +2 more
core   +1 more source

Insulin-like growth factor-1 levels in children with Beta-thalassemia minor [PDF]

, 2008
Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH) / insulin growth factor-1 (IGF-1) axis, undernutrition and ...
Hamdollah Karamifar, Mehran Karimi, Nargrs Sobhani   +2 more
core