Results 1 to 10 of about 5,388 (203)

Acquired Sideroblastic Anemia: An Exploratory Comparative Statistical Analysis Between Clonal and Non-clonal Cases. [PDF]

Mediterr J Hematol Infect Dis, 2022
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Soliman DS, Kohla S, Fareed S, Akiki S, Amer A, Ganwo I, Chandra P, El-Omri H, Ibrahim F.   +8 more
europepmc   +2 more sources

Dolutegravir-induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication. [PDF]

Clin Case Rep, 2023
Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired ...
Dhonju K, Gautam A, Dahal A, Sharma NK, Adhikari D, Devkota L, Adhikari P, Tuladhar S, Pathak BD, Banmala S.   +9 more
europepmc   +2 more sources

Recurrent sideroblastic anemia during pregnancy. [PDF]

Clin Case Rep, 2023
Sideroblastic anemia is a heterogeneous group of disorders typified by the presence of ring sideroblasts in the bone marrow and has congenital and acquired types. Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐year‐old female
Mohamed S, Ibrahim F, Alasafar MN, Alshurafa A, Akiki S, Soliman D, Kohla S, Amer A, Qasim H, Cherif H.   +9 more
europepmc   +2 more sources

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review. [PDF]

Front Pediatr, 2021
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide.
Xiong S, Jia Y, Li S, Huang P, Xiong J, Mao D, He Q, Liu L.   +7 more
europepmc   +2 more sources

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review. [PDF]

Front Pediatr, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Chen X, Fu F, Mo X, Cheng S, Zeng H.
europepmc   +2 more sources

Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia. [PDF]

Front Cell Dev Biol, 2022
Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors.
Vishwanathan V, D'Silva P.
europepmc   +2 more sources

Sideroblastic anemia

Journal of Pathology of Nepal, 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 exertional shortness of breath for the last one year.
P Bhandari, R Hamal, A Shrestha
openaire   +4 more sources

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. [PDF]

Haematologica, 2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA ...
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD.   +29 more
europepmc   +2 more sources

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report. [PDF]

BMC Med Genomics
Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications.
Kothari SS, Shah J, Sharma V, Charaniya R, Parikh R, Vaniawala SN.   +5 more
europepmc   +2 more sources

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study. [PDF]

Front Med (Lausanne)
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Al Kindi S, Al-Mamari A, Al-Zadjali S, Al-Rawahi M, Al Madhani A, Pathare AV.   +5 more
europepmc   +2 more sources