Results 41 to 50 of about 511,787 (144)

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, Volume 117, Issue 5, Page 1369-1377, November 2026.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report

BMC Medical Genomics
Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications.
Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala   +5 more
doaj   +1 more source

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS) [PDF]

Annals of Hematology, 2012
Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to clarify the pathophysiology of sideroblastic anemia, a nationwide survey consisting of clinical and molecular ...
Ohba, Rie, Furuyama, Kazumichi, Yoshida, Kenichi, Fujiwara, Tohru, Fukuhara, Noriko, Onishi, Yasushi, Manabe, Atsushi, Ito, Etsuro, Ozawa, Keiya, Kojima, Seiji, Ogawa, Seishi, Harigae, Hideo   +11 more
openaire   +2 more sources

CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia

The Journal of Gene Medicine, Volume 28, Issue 10, October 2026.
In this study, the identity of fibroblast cells isolated from the patient was identified using several methods. Then, the sgRNA3‐pX459 plasmid together with ssODN was transfected into fibroblast cells with a transfection efficiency of 49.64%. Finally, the entry of ssODN donor into fibroblast cells was confirmed using PCR‐RFLP and PAGE methods. ABSTRACT
Shokoufeh Yazdanparast, Hamid Galehdari, SaeidReza Khatami, Elham Hoveizi, Kaveh Jaseb   +4 more
wiley   +1 more source

Defining the Role of Hem25 in Mitochondrial Function: Implications for Congenital Sideroblastic Anemia [PDF]

, 2015
Congenital sideroblastic anemia (CSA) is a hematological disease caused by mutations in genes that result in a defect in heme/hemoglobin biosynthesis. Mutations in SLC25A38 cause CSA.
Dufay, Jesica N.
core   +2 more sources

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, Volume 209, Issue 4, Page 1469-1481, October 2026.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Ring sideroblasts and sideroblastic anemias

, 2011
The sideroblastic anemias include both hereditary and acquired conditions. The two most common forms of congenital sideroblastic anemia, i.e. the X-linked form due to an ALAS2 mutation and the autosomal recessive form due to SLC25A38 mutations, have ...
CAZZOLA, MARIO, M. Cazzola, INVERNIZZI, ROSANGELA, R. Invernizzi   +3 more
core   +1 more source

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Biomolecules, 2020
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these
Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné   +2 more
doaj   +1 more source

Severe Macrocytic Anemia Associated With a Novel ALAS2 Mutation: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT X‐linked sideroblastic anemia (XLSA), caused by pathogenic variants in ALAS2, typically presents as microcytic anemia in males. However, heterozygous females occasionally exhibit an atypical macrocytic phenotype, often leading to diagnostic ambiguity and confusion with nutritional anemias or myelodysplastic syndromes.
Haodong Cai, Kefeng Shen, Jin Wang, Jia Gu, Meilan Zhang, Min Xiao   +5 more
wiley   +1 more source

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review

HemaSphere, Volume 10, Issue 9, September 2026.
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis, Ioanna Saougou, Eleftheria Hatzimichael   +2 more
wiley   +1 more source