Results 81 to 90 of about 158,399 (177)

Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1

Case Reports in Hematology, Volume 2026, Issue 1, 2026.
Congenital dyserythropoietic anemia is a group of hereditary disorders characterized by erythroid hyperplasia and ineffective erythropoiesis, resulting in anemia of varying severity. Congenital dyserythropoietic anemia Type 1 (CDA‐1) is classically associated with biallelic mutations in the CDAN1 gene.
Kevin G. Zablonski, Neil A. Lachant, Archibald Perkins, William J. Archibald, Kalyani Sen   +4 more
wiley   +1 more source

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +1 more source

Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report

Case Reports in Hematology, Volume 2026, Issue 1, 2026.
Folate deficiency is common and often asymptomatic, but severe cases can cause megaloblastic anemia. Rarely, it presents with pancytopenia and bone marrow changes resembling myelodysplastic syndrome/neoplasm (MDS) and/or acute myeloid leukemia (AML), complicating diagnosis and management. We present a case of a patient with severe folate deficiency, in
Scott Potter, Margaret Williams, Timothy M. Hanley, Kalyani Sen   +3 more
wiley   +1 more source

Anemia Prevalence among Pregnant Women and Birth Weight in Five Areas in China [PDF]

, 2009
Objectives: To investigate the current prevalence of anemia among pregnant women in different areas of China and the association with birth weight and educational level.
R.X. Xu, Sun, Y.Y., Y.Y. Sun, Li, Y., Q.Z. Wang, Zheng, M.C., Wang, Q.Z., M.C. Zheng, E. Schouten, Ma, A.G., A.G. Ma, Y. Li, Schouten, E.G., Wang, Y., Y. Wang, Xu, R.X.   +15 more
core   +1 more source

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Clinical Immunology Communications
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene.
Amer Khojah, Lauren Gunderman, Ameera Bukhari, Aisha Mirza, Madeline Schutt, Aisha Ahmed   +5 more
doaj   +1 more source

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source

Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in ALAS2 Be the Culprit?

Case Reports in Pathology, Volume 2026, Issue 1, 2026.
Background Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate‐limiting step in heme synthesis is the conjugation of glycine with succinyl‐CoA to form 5‐aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded ...
Greg Brown, Stephen Brown, Suraiya Saleem   +2 more
wiley   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
de la Iglesia Iñigo, Silvia, María‐Isabel Moreno‐Carralero, Manuel Méndez, Morán-Jiménez, María-José, Fernández-Jiménez, María-Cristina, Silvia de la Iglesia Iñigo, Marta Morado‐Arias, Moreno-Carralero, María-Isabel, María‐Cristina Fernández‐Jiménez, María‐José Morán‐Jiménez, Méndez, Manuel, Morado-Arias, Marta   +11 more
core   +1 more source

Assessment of maternal anemia in rural Western China between 2001 and 2005: a two-level logistic regression approach. [PDF]

, 2013
BACKGROUND: There are multiple adverse effects of anemia on human function, particularly on women. However, few researches are conducted on women anemia in rural Western China.
Ren, Lin, Wang, Duolao, Pei, Leilei, Lin Ren, Duolao Wang, Yan, Hong, Leilei Pei, Hong Yan   +7 more
core   +2 more sources

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +1 more source