Results 91 to 100 of about 3,469 (181)

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

, 2015
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males
CAZZOLA, MARIO, MALCOVATI, LUCA
core   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia. [PDF]

Ann Indian Acad Neurol, 2022
Sait B, Chidambaram AC, Dinesh Babu RM, Vidhyasagar K, Xavier JR, Sagayaraj B.   +5 more
europepmc   +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

Transient Sideroblastic Anemia Post-COVID-19 Infection. [PDF]

Cureus, 2022
Mukhi N, Soto LR, Vuppala A.
europepmc   +1 more source

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report. [PDF]

Front Pediatr, 2022
Gong Y, Lan XP, Guo S.
europepmc   +1 more source

Sideroblastic changes of the bone marrow can be predicted by the erythrogram of peripheral blood

, 2010
Summary The diagnosis of sideroblastic anemia is based on bone marrow aspiration, and the detection of ring sideroblasts (RS) in iron staining. The finding of laboratory parameters to approach this diagnosis still remains a great challenge. In this study,
Halter, J, Arber, C, Gratwohl, A, Arber, C., Passweg, Jakob, Stüssi, G., Gratwohl, Alois, Passweg, J, Gratwohl, A., Rovo, A, Stussi, G, Passweg, J., Tichelli, A, Meyer-Monard, S., Tsakiris, D, Heim, D., Tichelli, A., Tsakiris, D., Favre, G, Favre, G., Halter, J., Heim, D, Meyer-Monard, S, Rovó, A.   +23 more
core   +1 more source

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD). [PDF]

J Clin Immunol, 2023
Li Y, Deng M, Han T, Mo W, Mao H.
europepmc   +1 more source

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis. [PDF]

Cureus, 2023
Shoeleh C, Donato UM, Galligan A, Vitko J.   +3 more
europepmc   +1 more source

Sideroblastic anemia: An underdiagnosed rare disease

Pediatric Hematology Oncology Journal, 2022
Swetha Palla, Pankaj Sharma, Prateek Bhatia, Deepak Bansal, Reena Das, Amita Trehan   +5 more
doaj   +1 more source