Zobrazeno 1 - 10
of 638
pro vyhledávání: '"α-globin"'
Publikováno v:
Libyan Journal of Medicine, Vol 19, Iss 1 (2024)
To determine the molecular basis, genotype – phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical pheno
Externí odkaz:
https://doaj.org/article/c1e3f8f63edf4f10aeda1528b760696b
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Objective The α-globin fusion gene between the HBA2 and HBAP1 genes, is clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combined with α0 -thalassemia (α0 -thal). In this study,
Externí odkaz:
https://doaj.org/article/0017518e966d434cb72c5d539d4d30aa
Autor:
Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Yukun Zeng, Li Du
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-7 (2023)
Abstract Background At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long
Externí odkaz:
https://doaj.org/article/3a60b74a53f742b6b2ede8a19908c8db
Autor:
Roberto Gambari, Alessia Finotti
Publikováno v:
Cells, Vol 13, Iss 11, p 918 (2024)
The β-thalassemias are inherited genetic disorders affecting the hematopoietic system. In β-thalassemias, more than 350 mutations of the adult β-globin gene cause the low or absent production of adult hemoglobin (HbA). A clinical parameter affecti
Externí odkaz:
https://doaj.org/article/560e4740bc164af1a922e0ccab9427af
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground Thalassemia, a common autosomal hereditary blood disorder worldwide, mainly contains α- and β-thalassemia. The α-globin gene triplicates allele is harmless for carriers, but aggravates the phenotype of β-thalassemia. Therefore,
Externí odkaz:
https://doaj.org/article/7f0792f5951749efaabee65dd3d47f9a
Publikováno v:
Annals of Medicine, Vol 55, Iss 2 (2023)
AbstractBackground An increasing number of α-hemoglobin (Hb) variants is causing various clinical symptoms; therefore, accurate identification of these Hb variants is important.Objective This study aimed to describe the molecular and hematological c
Externí odkaz:
https://doaj.org/article/85c3e19553d64ea4bbea3ee0f2832066
Autor:
Xinxing Xie, Jinhui Gan, Zezhang Liu, Yulian Zhou, Kun Yuan, Zhigang Chen, Shiping Chen, Rui Zhou, Lipei Liu, Xiaoyan Huang, Yan Zhang, Qian Liu, Wenqian Zhang, Jungao Huang, Junkun Chen
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large
Externí odkaz:
https://doaj.org/article/b857fb4c411d43a6a711010b73f9ad80
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 150-156 (2022)
Objectives Shaokwan is one of the inhabitant regions of Hakka population in Guangdong province of southern China. Previous survey has reported that a higher prevalence of abnormal hemoglobin (Hb) in this region. However, large-scale survey on the mol
Externí odkaz:
https://doaj.org/article/ad3758ef68fc462aa8a25c31aedcacff
Autor:
Xiuqin Bao, Danqing Qin, Jian Ma, Xiangcheng Zhou, Jicheng Wang, Cuize Yao, Liang Zhang, Li Du
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 198-203 (2022)
Background The α-thalassemia is a highly prevalent disease in tropical and subtropical regions, including southern China, and is mainly caused by deletion in α-globin genes (HBA1 and HBA2). The clinical manifestation of α-thalassemia is highly cor
Externí odkaz:
https://doaj.org/article/7d5df372d2d9410b9fd33815a7b35b16
Autor:
Yan Yuan, Xia Zhou, Jing Deng, Qun Zhu, Zanping Peng, Liya Chen, Ya Zou, Aiping Mao, Wanli Meng, Minhui Ma, Hongliang Wu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Thalassemia is a hereditary blood disease resulting from globin chain synthesis impairment because of α- and/or β-globin gene variants. α-thalassemia is characterized by non-deletional and deletional variants in the HBA gene locus, of
Externí odkaz:
https://doaj.org/article/892cedbb6d2a45ecbba776483f4aa6b6