Results 81 to 90 of about 170,027 (191)

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

, 2003
The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions.
TRAVAGLINO E, BIASIOTTO, Giorgio, AROSIO, Paolo, CAZZOLA M, CORSI B, DRYSDALE J, INVERNIZZI R, BERGAMASCHI G, LEVI S, ROLANDI V   +9 more
core   +2 more sources

Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica, 2004
We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C).
E Cortesao, J Vidan, J Pereira, P Goncalves, ML Ribeiro, G Tamagnini   +5 more
doaj  

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

, 2011
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085), Richard Giegé (28490), Alison Compton (13492513), Mike Ryan (19213375), David Thorburn (13492525), Matthew McKenzie (13084017), John Christodoulou⁎ (19213378), Joëlle Rudinger-Thirion (807041), Lisa Riley (11328381), Melanie Bahlo (54258), Sandra Cooper (3486899)   +10 more
core  

A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology

Practical Laboratory Medicine
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
doaj   +1 more source

Pyrazinamide‐induced sideroblastic anemia [PDF]

American Journal of Hematology, 2011
Colucci, Giuseppe, Silzle, Tobias, Solenthaler, Max   +2 more
openaire   +4 more sources

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

, 2012
: X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13.
Vermeersch, Pieter, Marc D’Hooghe, D' Hooghe, Marc, Mortier, Geert, Pieter Vermeersch, Geert Mortier, Dominik Selleslag, D'Hooghe, Marc, Bekri, Soumeya, Rudy Van Coster, Van Coster, Rudy, Selleslag, Dominik, Soumeya Bekri, Johan Billiet, Billiet, Johan   +14 more
core   +1 more source

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

, 2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and
Marques, Laura, Major-Cook, N., Kannengiesser, Caroline, Hughes, Stephen, Klaassen, R. J., Bottomley, Sylvia S, Wiseman, D. H., Thuret, Isabelle, Giardina, P. J., Thompson, Alexis A, Heeney, Matthew M, Marques, L., Bonney, D. K., Chakraborty, P., Kannengiesser, C., Klaassen, Robert J, Chakraborty, Pranesh, Fleming, M. D., Thompson, A. A., Bonney, Denise K, Wiseman, Daniel H; id_orcid, Wynn, R. F., Fleming, Mark D, Giardina, Patricia J, May, Alison, Geraghty, Michael T, Powell, Colin, Heeney, M. M., Jolles, Stephen, Connor, Philip, Bottomley, S. S., Wynn, Robert F, Major-Cook, Nathalie, Hughes, S., Geraghty, M. T., Thuret, I.   +35 more
core   +1 more source

Sickle Hemoglobin and Sideroblastic Anemia

, 2002
dimorphic smear in patient with Hb SS and acute onset of sideroblastic ...
Lawrence, Christine
core  

Abnormal Iron Incorporation, Survival, Protoporphyrin Content and Fluorescence of One Red Cell Population in Preleukemic Sideroblastic Anemia

The dimorphic blood picture in sideroblastic anemia suggests the coexistence of at least two types of erythrocyte, the populations with the smaller RBCs being responsible for the crucial abnormality, namely the impairment of iron incorporation into ...
Riedler, Georg F., Straub, P. Werner
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source