Results 71 to 80 of about 170,027 (191)

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

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

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

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes

, 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
Yao Qin, Hang Zhang, Ting Liu, Jianying Zhou   +3 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

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
Sara El Hoss, Maria A. Lizarralde‐Iragorri, Thiago Trovati Maciel, Olivier Hermine   +3 more
wiley   +1 more source

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

, 2020
Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD.
Rigante D, Giorgio V, Tornesello A, Zampino G, Leoni C, Onesimo R   +5 more
core   +1 more source

Luspatercept Enhances Hemoglobin Levels in a Chinese Boy With Congenital Sideroblastic Anemia: A Case Report [PDF]

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 ...
Zhou, Kang, Zhao, Xin, Zhang, Li, Jing, Li-Ping, Zhang, Feng-Kui, Yang, Yang, Ye, Lei, Li, Yuan, Xiong, You-Zhen, Fan, Hui-Hui, Li, Jian-Ping, Peng, Guang-Xin, Yang, Wen-Rui   +12 more
core   +1 more source

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

, 2017
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the ...
Karim Maloum, Kannengiesser, Caroline, Christiane Vermylen, Fouquet, Cyrielle, Leblanc, Thierry, Nadja Jäkel, Caroline Kannengiesser, Maloum, Karim, Cyrielle Fouquet, Jäkel, Nadja, Le Rouzic, Marie-Amelyne, Marie-Amelyne Le Rouzic, Guichard, Jean-François, Patrick Lutz, Fanny Fouyssac, Perel, Yves, Yves Perel, Vannier, Jean-Pierre, Fouyssac, Fanny, Lutz, Patrick, Mohamed Touati, Touati, Mohamed, Jean-Pierre Vannier, Fabienne Toutain, Manceau, Hana, Toutain, Fabienne, Vermylen, Christiane, Thierry Leblanc, Jean-François Guichard, Hana Manceau   +29 more
core   +1 more source