Results 21 to 30 of about 8,373,614 (131)

[X-linked sideroblastic anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1999
A 20-year-old man presented with microcytic hypochromic anemia (hemoglobin: 9.3 g/dl, MCV: 82.0 fl, MCHC: 29.5 g/dl) and dimorphism RBCs in circulating blood (RDW: 26.8%). Ringed sideroblasts accounted for 29.5% of bone marrow erythroblasts. Iron overload was also observed.
MURAMATSU, Michiko, USUKI, Kensuke, IZUTSU, Kouji, YAMAGUCHI, Yuko, IKI, Seiko, FURUYAMA, Kazumichi, KONDO, Masao, URABE, Akio   +7 more
openaire   +2 more sources

Sideroblastic anemia [PDF]

, 2016
Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and ...
A Shrestha, P Bhandari, R Hamal
core   +1 more source

Genetic/metabolic effect of iron metabolism and rare anemias

Thalassemia Reports, 2013
Advances in iron metabolism have allowed a novel classification of iron disorders and to identify previously unknown diseases. These disorders include genetic iron overload (hemochromatosis) and inherited iron-related anemias, in some cases accompanied ...
Clara Camaschella
doaj   +1 more source

SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.

PLoS ONE, 2011
BackgroundMice irradiated and reconstituted with hematopoietic cells lacking manganese superoxide dismutase (SOD2) show a persistent hemolytic anemia similar to human sideroblastic anemia (SA), including characteristic intra-mitochondrial iron deposition.
Florent M Martin, Xiuling Xu, Katharina von Löhneysen, Timothy J Gilmartin, Jeffrey S Friedman   +4 more
doaj   +1 more source

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Molecular Medicine, 2019
Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2).
Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop   +2 more
doaj   +1 more source

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

Blood, 2006
AbstractX-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial ...
Corinne, Pondarre, Dean R, Campagna, Brendan, Antiochos, Lindsay, Sikorski, Howard, Mulhern, Mark D, Fleming   +5 more
openaire   +3 more sources

Causes and Pathophysiology of Acquired Sideroblastic Anemia

, 2022
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow.
Leonor Arenillas, Rodriguez-Sevilla, Juan Jose, Juan Jose Rodriguez-Sevilla, Xavier Calvo, Calvo, Xavier, Arenillas, Leonor, Arenillas Rocha, Leonor   +6 more
core   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
de la Iglesia Iñigo, Silvia, María‐Isabel Moreno‐Carralero, Manuel Méndez, Morán-Jiménez, María-José, Fernández-Jiménez, María-Cristina, Silvia de la Iglesia Iñigo, Marta Morado‐Arias, Moreno-Carralero, María-Isabel, María‐Cristina Fernández‐Jiménez, María‐José Morán‐Jiménez, Méndez, Manuel, Morado-Arias, Marta   +11 more
core   +1 more source

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, Volume 117, Issue 5, Page 1369-1377, November 2026.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options

Journal of Blood Medicine, 2020
Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Abu-Zeinah G, DeSancho MT
doaj