Zobrazeno 1 - 10
of 1 052
pro vyhledávání: '"α‐thalassemia"'
Publikováno v:
Cellular, Molecular and Biomedical Reports, Vol 4, Iss 2, Pp 100-110 (2024)
Thalassemia major is the most common hemolytic anemia in Iran and the world that causes an increase in complications in patients, one of the most important of which is liver complications. Therefore, this study aimed to evaluate the level of liver en
Externí odkaz:
https://doaj.org/article/fdb3ced7ceaf48099dc50789edc875d8
Autor:
Vu Viet Ha Vuong, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh Ha Nguyen, Hai Anh Tran, Nhat-Minh Dang-Tran, The-Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van-Khanh Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 375-380 (2024)
Objectives: α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high rate of mutation carriers, of couples consi
Externí odkaz:
https://doaj.org/article/97b2709f55004b258e4dd79714c5b636
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
ObjectiveThis study aimed to develop and assess a novel reverse dot blot assay for the simultaneous detection of 10 types of α-thalassemia alleles in the Chinese population, including six common variants of–SEA, -α3.7, -α4.2, αCS, αQS, and αW
Externí odkaz:
https://doaj.org/article/0b1dac63c0c2410da037002a9ca80c98
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Abnormal hemoglobin anti-Lepore Hong Kong is a rare βδ fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2. In this study, we
Externí odkaz:
https://doaj.org/article/0b4b0ec338374c86ae8f8d41fbb1104c
Autor:
Rawand P. Shamoon, Amir Charkaneh, Elena Di Pierro, Milena Irrera, Cristina Curcio, Ahmed Yassin, Rozhgar A. Khailany
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
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
Externí odkaz:
https://doaj.org/article/cb6c7b1af1674f8286969f500083ff2d
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
ObjectiveThis study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.MethodsAll patients underwent α-thalassemia gene testing, which included the analysis of three typ
Externí odkaz:
https://doaj.org/article/dbd38f166b4b4e30ab62776c2f937861
Autor:
Hayaa M. Alhuthali, Eman F. Ataya, Alaa Alsalmi, Triq E Elmissbah, Khalaf F Alsharif, Hind A. Alzahrani, Ahad Amer Alsaiari, Mamdouh Allahyani, Amal F. Gharib, Husam Qanash, Heba M. Elmasry, Doha Elsayed Hassanein
Publikováno v:
Thrombosis Journal, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Alpha-thalassemia (α-thalassemia) is one of the most common monogenic diseases in Saudi Arabia and is associated with significant morbidity. Premarital testing programs in Saudi Arabia reduce the burden of hemoglobinopathy disord
Externí odkaz:
https://doaj.org/article/b531af6449c847da8d0c387443d3a433
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8578 (2024)
Hemoglobin Shaare Zedek (Hb SZ) is a rare structural α-Hb variant. Characterizing its genotype–phenotype relationship and genetic origin enhances diagnostic and clinical management insights. We studied a proband and six family members using high-p
Externí odkaz:
https://doaj.org/article/a8cdab5ae92442eb9221daffc71b61a3
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Purpose:Thalassemia is a severe hereditary blood disorder that poses a significant threat to human health and leads to mortality and disability. It is one of the most prevalent monogenic diseases worldwide. The aim of this study was to analyze the mo
Externí odkaz:
https://doaj.org/article/2e3d784daa024307925a74079b225b04
Autor:
Yueyun Lan, Hong Zhou, Sheng He, Jinhui Shu, Lifang Liang, Hongwei Wei, Jingsi Luo, Caizhu Wang, Xin Zhao, Qingming Qiu, Peng Huang
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
ObjectiveTo improve the accuracy of preimplantation genetic testing (PGT) in deletional α-thalassemia patients.DesignArticle.Patient(s)fifty-two deletional α-thalassemia couples.Intervention(s)Whole genome amplification (WGA), Next-generation seque
Externí odkaz:
https://doaj.org/article/221aa2b9aae8459584b691161e2e10c5