Results 91 to 100 of about 158,399 (177)

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

, 2020
Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD.
Rigante D, Giorgio V, Tornesello A, Zampino G, Leoni C, Onesimo R   +5 more
core   +1 more source

A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis

, 2009
A-14 years-old man, admitted to our clinic with weakness and paleness since one month. He has hepatosplenomegaly. Blood tests and peripheral blood smear showed anemia that severe hypochromic, microcytic anemia.
Tokgöz, Hüseyin, Çalışkan, Ümran, Yüksekkaya, Hasan   +2 more
core   +1 more source

Nutritional status, hospitalization and mortality among patients with sickle cell anemia in Tanzania. [PDF]

, 2011
BACKGROUND: Reduced growth is common in children with sickle cell anemia, but few data exist on associations with long-term clinical course. Our objective was to determine the prevalence of malnutrition at enrollment into a hospital-based cohort and ...
Soka, Deogratius, Prentice, AM, Komba, Albert N, Prentice, Andrew M, C. R. Newton, A. M. Prentice, Komba, AN, Williams, TN, Fulford, AJ, Makani, J, Newton, Charles R, S. E. Cox, D. Soka, Newton, CR, A. N. Komba, Soka, D, Marsh, K, Cox, SE, Fulford, Anthony J, K. Marsh, Williams, Thomas N, J. Makani, Cox, Sharon E, Williams, Thomas, Makani, Julie, Marsh, Kevin, T. N. Williams, A. J. Fulford   +27 more
core   +1 more source

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 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

Neuromuscular Blockade with Rocuronium Bromide Increases the Tolerance of Acute Normovolemic Anemia in Anesthetized Pigs [PDF]

, 2012
Background: The patient's individual anemia tolerance is pivotal when blood transfusions become necessary, but are not feasible for some reason. To date, the effects of neuromuscular blockade (NMB) on anemia tolerance have not been investigated. Methods:
Horn, O., Stein, P., Kertscho, H., Lossen, M., Zwissler, Bernhard, Pape, A., Kutschker, S., Habler, O.   +7 more
core   +1 more source

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

Sickle Hemoglobin and Sideroblastic Anemia

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