Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Laboratory Medicine"
DOI: 10.3343/alm.2018.38.4.389
Abstract: Dear Editor, Hereditary sideroblastic anemia (SA) is characterized by anemia with ringed sideroblasts in the bone marrow (BM) [1]. Phenotypic expression is highly variable, and the most common hereditary SA is X-linked sideroblastic anemia (XLSA,… read more here.
Keywords: sideroblastic anemia; anemia; month old; linked sideroblastic ... See more keywords
Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.847045
Abstract: Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors. A common hallmark underlying these pathological conditions is mitochondrial dysfunction due to altered protein… read more here.
Keywords: function; congenital sideroblastic; sideroblastic anemia; mitochondrial dysfunction ... See more keywords
The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.692459
Abstract: X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of… read more here.
Keywords: sideroblastic anemia; anemia; linked sideroblastic; anemia ataxia ... See more keywords