Results 91 to 100 of about 8,373,614 (131)

X-Linked, Pyridoxine-Responsive Sideroblastic Anemia

New England Journal of Medicine, 1994
In a normal adult, 2 × 1011 worn-out red cells die every day. In replacing them with an equal number of fresh erythrocytes, the bone marrow synthesizes 4 × 1014 molecules of hemoglobin per second.
exaly   +2 more sources

A Novel Mutation in Exon 5 of the ALAS2 Gene Results in X-Linked Sideroblastic Anemia

Clinica Chimica Acta, 2002
Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA).A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used.A G527T point mutation was identified.
Gregory J Tsongalis, William N Rezuke, Lawrence M Silverman   +2 more
exaly   +3 more sources

X Chromosome Inactivation Ratios in Female Carriers of X-Linked Sideroblastic Anemia

Blood, 2001
In heterozygous females, an unbalanced X chromosome inactivation pattern (skewed lyonization) may cause disease expression of X-linked disorders,[1][1] for example, X-linked sideroblastic anemia (XLSA).[2][2],[3][3] X chromosome inactivation analyses such as the polymerase chain reaction (PCR)–
Norbert Gattermann, Manuel Aivado
exaly   +2 more sources

Sideroblastic Anemia: Molecular Analysis of the ALAS2 Gene in a Series of 29 Probands and Functional Studies of 10 Missense Mutations [PDF]

Human Mutation, 2011
X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Hervé Puy, Jean-Charles Deybach, Christiane Vermylen   +2 more
exaly   +2 more sources

Late-onset X-linked sideroblastic anemia following hemodialysis

Blood, 2003
Abstract X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts
Kazumichi, Furuyama, Hideo, Harigae, Chiharu, Kinoshita, Toshihiko, Shimada, Kazuko, Miyaoka, Chiaki, Kanda, Yoshifumi, Maruyama, Shigeki, Shibahara, Shigeru, Sassa   +8 more
openaire   +2 more sources

X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation

Journal of Pediatric Hematology/Oncology, 2017
Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.
Thomas A K, Susanto, Rajat, Bhattacharyya   +1 more
openaire   +2 more sources

A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia

International Journal of Hematology, 2016
X-linked sideroblastic anemia (XLSA) is a rare hereditary disorder that typically manifests in males as microcytic anemia. Here, we report a family with XLSA that affects females and manifests as macrocytic anemia. The proband was a Japanese woman harboring a heterozygous mutation c.679C>T in the ALAS2 gene.
Tatsuya, Katsurada, Hiroshi, Kawabata, Daiki, Kawabata, Masahiro, Kawahara, Yukiharu, Nakabo, Akifumi, Takaori-Kondo, Yataro, Yoshida   +6 more
openaire   +2 more sources

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

Human Genetics, 1995
X-linked sideroblastic anemia is a genetic disorder characterized by a hypochromic microcytic anemia of variable intensity with the presence of ring sideroblasts in the bone marrow of the patients. Two different mutations have been reported in the ALAS2 gene in patients with this disease. We have studied a large kindred with a pyridoxine-sensitive form
E, Prades, C, Chambon, T A, Dailey, H A, Dailey, J, Brière, B, Grandchamp   +5 more
openaire   +2 more sources

X-linked sideroblastic anemia in females

Blood
Abstract X-linked sideroblastic anemia (XLSA) in female carriers of 5-aminolevulinic acid synthase 2 mutations is not uncommon. We describe unique features and genotype/phenotype correlations in females with XLSA and evaluate the contributions of X-chromosome skewing and clonal hematopoiesis, emphasizing the ...
Sarah Ducamp, Dean R. Campagna, Anoop K. Sendamarai, Paul J. Schmidt, Harrison K. Tsai, Matthew M. Heeney, Sylvia S. Bottomley, Mark D. Fleming   +7 more
openaire   +1 more source

Establishment of a cell model of X-linked sideroblastic anemia using genome editing

Experimental Hematology, 2018
ALAS2 gene mutations cause X-linked sideroblastic anemia. The presence of ring sideroblasts in a patient's bone marrow is the hallmark of sideroblastic anemia, but the precise mechanisms underlying sideroblast formation are largely unknown. Using a genome-editing system, a mutation was introduced in the erythroid-specific enhancer of the ALAS2 gene in ...
Kiriko, Kaneko, Yoshiko, Kubota, Kazumi, Nomura, Haruka, Hayashimoto, Taisei, Chida, Naoto, Yoshino, Marina, Wayama, Katsutoshi, Ogasawara, Yukio, Nakamura, Ikuo, Tooyama, Kazumichi, Furuyama   +10 more
openaire   +2 more sources