Results 1 to 10 of about 92 (78)

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review [PDF]

Frontiers in Pediatrics, 2021
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.
Shiqiu Xiong, Yang Jia, Shijun Li, Peng Huang, Peng Huang, Jie Xiong, Jie Xiong, Dingan Mao, Dingan Mao, Qingnan He, Liqun Liu, Liqun Liu   +11 more
doaj   +5 more sources

A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia

Haematologica, 2018
Congenital sideroblastic anemia is an inherited anemia characterized by the presence of bone marrow ring sideroblasts.[1][1] To date, several causative genes, mostly related to iron and heme metabolism in erythroid cells, have been considered critical for the formation of ring sideroblasts.[1][1]
Shunsuke Hatta, Tohru Fujiwara, Takako Yamamoto, Kei Saito, Mayumi Kamata, Yoshiko Tamai, Shin Kawamata, Hideo Harigae   +7 more
doaj   +3 more sources

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study

Frontiers in Medicine
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare   +6 more
doaj   +3 more sources

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia With Mutations in SPTB and ALAS2 Genes

Journal of Clinical Medicine, 2023
We report a case of severe anemia caused by complex hereditary spherocytosis (HS) and X-linked sideroblastic anemia (XLSA) with two mutations in the spectrin beta (SPTB) and 5-aminolevulinic acid synthase (ALAS2) genes. The proband was a 16-year-old male with severe jaundice and microcytic hypochromic anemia since his childhood.
Ting Liu, Yao Qin
exaly   +3 more sources

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

Scientific Reports
X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez   +12 more
doaj   +2 more sources

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia [PDF]

Blood Advances, 2022
AbstractX-linked sideroblastic anemia (XLSA) is associated with mutations in the erythroid-specific δ-aminolevulinic acid synthase (ALAS2) gene. Treatment of XLSA is mainly supportive, except in patients who are pyridoxine responsive. Female XLSA often represents a late onset of severe anemia, mostly related to the acquired skewing of X chromosome ...
Yuki Morimoto, Kazuhisa Chonabayashi, Hiroshi Kawabata, Chikako Okubo, Makiko Yamasaki-Morita, Misato Nishikawa, Megumi Narita, Azusa Inagaki, Kayoko Nakanishi, Miki Nagao, Akifumi Takaori-Kondo, Yoshinori Yoshida   +11 more
openaire   +3 more sources

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

Diagnostics, 2022
Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard, Franck Genevieve, Emmanuelle Rault, Odile Fenneteau, Jean-François Lesesve   +4 more
doaj   +1 more source

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

BMC Medical Genomics, 2021
Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2).
Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng   +9 more
doaj   +1 more source

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

Scientific Reports, 2022
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae   +17 more
doaj   +1 more source

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. [PDF]

PLoS ONE, 2008
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts.
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J Littlewood, Luca Malcovati, Matteo G Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S Wainscoat   +15 more
doaj   +1 more source