Results 51 to 60 of about 324,192 (243)

Mitochondrial DNA with a Large-Scale Deletion Causes Two Distinct Mitochondrial Disease Phenotypes in Mice [PDF]

, 2013
Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a ...
Hayashi Jun-Ichi, Katada Shun, Mito Takayuki, Nakada Kazuto, Ogasawara Emi, 中田 和人, 林 純一   +6 more
core   +1 more source

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Haematologica, 2011
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May   +16 more
doaj   +1 more source

Transient Sideroblastic Anemia Post-COVID-19 Infection

Cureus, 2022
A 57-year-old gentleman presented to the hospital with progressive fatigue and dyspnea on exertion three months after recovering from COVID-19. He was noted to have severe anemia with reticulocytopenia.
N. Mukhi, Luis R Soto, Aparna Vuppala
semanticscholar   +1 more source

Clinical studies on iron metabolism of erythroblasts in preleukemic stage [PDF]

, 1974
The appearance of sideroblasts in hypoplastic anemia (HAl and acute myelocytic leukemia (AML), together with their sideroblastograms, was studied. Hematological studies on cases with type III sideroblast dominance by sideroblastograms produced the ...
Kimura, Ikuro, Sugiyama, Motoharu, Takahashi, lsao   +2 more
core   +1 more source

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]

, 2017
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania, Bergonia, Hector A., Ducamp, Sarah, Gouya, Laurent, Kafina, Martin D., Kannengiesser, Caroline, Kardon, Julia R., Karim, Zoubida, Manceau, Hana, Nicolas, Gaël, Paw, Barry H., Phillips, John D., Puy, Hervé, van der Vorm, Lisa N., Yien, Yvette Y.   +14 more
core   +3 more sources

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

SAGE Open Medical Case Reports, 2019
This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri, Therese El-Helou, Kevin A. Watters, Annie Bélisle, Ivan V. Litvinov, Elena Netchiporouk   +5 more
doaj   +1 more source

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica, 2014
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara   +6 more
doaj   +1 more source

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

Human Mutation, 2021
The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts.
M. Heeney, Simon Berhe, D. Campagna, Joseph H. Oved, P. Kurre, Peter Shaw, J. Teo, M. A. Shanap, H. Hassab, B. Glader, Sanjay Shah, A. Yoshimi, A. Ameri, J. Antin, J. Boudreaux, M. Briones, K. Dickerson, C. Fernandez, R. Farah, H. Hasle, Siobán B. Keel, T. Olson, J. Powers, M. Rose, Akiko Schimamura, S. Bottomley, M. Fleming   +26 more
semanticscholar   +1 more source

Central nervous system recurrence in a patient treated for acute promyelocytic leukemia, resulting in sideroblastic anemia: A case report

World Journal of Hematology, 2022
BACKGROUND Previous cases that have been stated in this article have displayed that around 1% to 7% of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrome or acute myeloid leukemia.
Haroon Nawaz, Ayesha A. Choudhry, William Morse   +2 more
semanticscholar   +1 more source

Sideroblastic anemia in children: challenges in diagnosis and management in three cases

Annals of Hematology
Sideroblastic anemias (SAs) represent a heterogeneous group of rare hematological disorders characterized by iron accumulation in mitochondria of erythroblasts with ineffective erythropoiesis.
S. Rekaya, Ilhem Ben Fraj, R. Hamdi, Aicha Ben Taieb, Amani Merdassi, H. Jouini, H. Zarrouk, Ikram Zaiter, Ridha Kouki, Mohamed Bejaoui, F. Mellouli, Monia Ben Khaled, M. Ouederni   +12 more
semanticscholar   +1 more source