Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes. [PDF]
J Clin Med, 2023 We report a case of severe anemia caused by complex hereditary spherocytosis (HS) and X-linked sideroblastic anemia (XLSA) with two mutations in the spectrin beta (SPTB) and 5-aminolevulinic acid synthase (ALAS2) genes. The proband was a 16-year-old male
Zhou J, Zhang H, Qin Y, Liu T.
europepmc +2 more sources
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD). [PDF]
J Clin Immunol, 2023 Purpose Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1).
Li Y, Deng M, Han T, Mo W, Mao H.
europepmc +2 more sources
A rare case of isoniazid induced sideroblastic anemia [PDF]
International Journal of Research in Medical Sciences, 2023 Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Chawla, Kunal +3 more
core +3 more sources
A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis. [PDF]
Cureus, 2023 Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations.
Shoeleh C +3 more
europepmc +2 more sources
Transient Sideroblastic Anemia Post-COVID-19 Infection. [PDF]
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.
Mukhi N, Soto LR, Vuppala A.
europepmc +2 more sources
COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia. [PDF]
Respir Med Case Rep, 2021 Sayad E +5 more
europepmc +3 more sources
ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia [PDF]
J Pers MedThe ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance.
Ogunbileje J +5 more
europepmc +2 more sources
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants. [PDF]
Am J Med Genet A, 2022 Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2.
Rudaks LI +7 more
europepmc +2 more sources
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. [PDF]
Hum Mutat, 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.
Heeney MM +26 more
europepmc +2 more sources
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. [PDF]
PLoS Genetics, 2016 Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors.
J Pedro Fernández-Murray +10 more
doaj +6 more sources