Results 21 to 30 of about 3,458 (193)

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia: A case report. [PDF]

World J Clin Cases
BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Li Y, Ye L, Zhou K, Fan HH, Li JP, Xiong YZ, Yang Y, Peng GX, Yang WR, Zhao X, Jing LP, Zhang L, Zhang FK.   +12 more
europepmc   +2 more sources

Congenital sideroblastic anemia in a child with biliary atresia: An association?

Pediatric Hematology Oncology Journal, 2023
Background: Congenital sideroblastic anemias (CSAs) are a rare inherited group of anemias. They are usually syndromic with neuromuscular and metabolic phenotypes.
Nalla Anuraag Reddy, Harsha Prasada Lashkari, Ashish S. Patil   +2 more
core   +2 more sources

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran. [PDF]

Ann Hematol
Sideroblastic anemia (SA) is a rare hematological condition characterized by the accumulation of iron in the mitochondria of erythroid precursor cells, resulting in the formation of sideroblastic rings. It occurs in both inherited and acquired forms.
Hasani E, Naghinejad M, Kohkalani M, Mansoori Derakhshan S, Shekari Khaniani M.   +4 more
europepmc   +2 more sources

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

Frontiers in Pediatrics, 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.
Shiqiu Xiong, Yang Jia, Shijun Li, Peng Huang, Peng Huang, Jie Xiong, Jie Xiong, Dingan Mao, Dingan Mao, Qingnan He, Liqun Liu, Liqun Liu   +11 more
doaj   +1 more source

Recurrent sideroblastic anemia during pregnancy

Clinical Case Reports, 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
Shehab Mohamed, Firyal Ibrahim, Mohamad Najib Alasafar, Awni Alshurafa, Susanna Akiki, Dina Soliman, Samah Kohla, Aliaa Amer, Hana Qasim, Honar Cherif   +9 more
doaj   +1 more source

A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

Hematology, Transfusion and Cell Therapy, 2021
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency ...
Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı   +3 more
doaj   +1 more source

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia. [PDF]

Ann Hematol
Background Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and
Chen ZX, Yang LY, Wang LT, Chen BY, Liang JL, Liu LL, Yu XH.   +6 more
europepmc   +2 more sources

[Sideroblastic anemias].

Therapeutische Umschau. Revue therapeutique, 2006
Sideroblastic anemias are a heterogenous group of disorders characterized by the presence of sideroblasts in the bone marrow aspirate. Current classification schemes distinguish between diseases of the heme synthesis pathway and diseases of other mitochondrial pathways which can either be of primary origin (defects in mitochondrial DNA) or of secondary
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire   +2 more sources

Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease

Annals of Internal Medicine: Clinical Cases, 2023
D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
doaj   +1 more source

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