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Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/ β-thalassemia prenatal genetic counseling
Blood Cells Mol Dis. 2023 Jun 15:102765. doi: 10.1016/j.bcmd.2023.102765. Online ahead of print.ABSTRACTThe study aimed to identify essential phenotype-modulating factors among the pre-existence of several important ones and clarify their measurable impact on the clinical severity of hemoglobin (Hb) E/β-thalassemia in a community-recruited population analysis. This prospective study was designed to compare modifiers between community- (less or no symptoms) and hospital-recruited individuals with Hb E/β-thalassemia. The formerly included couples previously assessed for prenatal thalassemia at-risk status at 42 community a...
Source: Blood Cells, Molecules and Diseases - June 23, 2023 Category: Hematology Authors: Peerapon Wong Thirabhat Chitsobhak Suporn Jittasathian Chonnigarn Sirichantharawat Naritsara Cherdchoo Weerapong Prangcharoen Patcharanapa Jongautchariyakul Katechan Jampachaisri Akamon Tapprom Rawisut Deoisares Piyatida Chumnumsiriwath Source Type: research

Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing
This study demonstrated that LRS technology had great advantages over conventional target diagnosis methods for identifying rare thalassemia variants and assisted better carrier screening and prenatal diagnosis of thalassemia.PMID:37336681 | DOI:10.1016/j.bcmd.2023.102764 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - June 19, 2023 Category: Hematology Authors: Jianjiang Feng Aiping Mao Ye Lu Haihong Shi Wanli Meng Chen Liang Source Type: research

Two new mutations in the GLRX5 gene cause sideroblastic anemia
Blood Cells Mol Dis. 2023 Sep;102:102763. doi: 10.1016/j.bcmd.2023.102763. Epub 2023 Jun 2.NO ABSTRACTPMID:37301020 | DOI:10.1016/j.bcmd.2023.102763 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - June 10, 2023 Category: Hematology Authors: Andr és Felipe Melo Arias Silvia Escribano Serrat Jorge Mart ínez Nieto Fiorella Medina Salazar Paloma Ropero Gradilla Celina Benavente Cuesta Fernando Ata úlfo González Fernández Source Type: research

Two new mutations in the GLRX5 gene cause sideroblastic anemia
Blood Cells Mol Dis. 2023 Jun 2;102:102763. doi: 10.1016/j.bcmd.2023.102763. Online ahead of print.NO ABSTRACTPMID:37301020 | DOI:10.1016/j.bcmd.2023.102763 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - June 10, 2023 Category: Hematology Authors: Andr és Felipe Melo Arias Silvia Escribano Serrat Jorge Mart ínez Nieto Fiorella Medina Salazar Paloma Ropero Gradilla Celina Benavente Cuesta Fernando Ata úlfo González Fernández Source Type: research