Results 51 to 60 of about 170,027 (191)

A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis [PDF]

, 2009
A-14 years-old man, admitted to our clinic with weakness and paleness since one month. He has hepatosplenomegaly. Blood tests and peripheral blood smear showed anemia that severe hypochromic, microcytic anemia.
Tokgöz, Hüseyin, Çalışkan, Ümran, Yüksekkaya, Hasan   +2 more
core   +1 more source

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia [PDF]

Sideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg, Marshall Patrick, Majid, Baseera, Polala, Ravali, Miatech, Jennifer   +3 more
core   +1 more source

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

Scientific Reports, 2022
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae   +17 more
doaj   +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

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

Table1_Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.docx

, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Suyun Cheng (14703256), Fang Fu (507742), Xiangyuan Chen (9658136), Huasong Zeng (7469195), Xiaolan Mo (7469189)   +4 more
core   +1 more source

Biology of sideroblastic anemia.

[Rinsho ketsueki] The Japanese journal of clinical hematology, 2017
Sideroblastic anemia is characterized by anemia with ring sideroblasts produced by the bone marrow. Sideroblasts are formed by disutilization and deposit of iron in the mitochondoria. There are two forms of sideroblastic anemia: congenital and acquired.
openaire   +2 more sources

Etiological study of microcytic hypochromic anemia

Journal of Pathology of Nepal, 2016
Background: Microcytic hypochromic anemia is a distinct morphologic subtype of anemia with well- de ned etiology and treatment. The objective of this study was to determine the etiology and frequency of microcytic hypochromic anemia.
S Kafle, M Lakhey
doaj   +1 more source

Integrated Phytochemical and Pharmacological Investigation of Mentha aquatica L.: Anti‐Inflammatory, Analgesic, and Safety Evidence From In Vivo Studies

Food Science &Nutrition, Volume 14, Issue 8, August 2026.
Mentha aquatica decocted extract contained mainly phenolic acids and showed a favorable oral safety profile in mice, with no significant subacute toxicity. Intraperitoneal administration caused dose‐dependent toxicity. The extract exhibited significant dose‐dependent anti‐inflammatory and analgesic activities in rodent models, supporting its potential ...
Meryem Tourabi, Khaoula Faiz, Rafik EL‐Mernissi, Bouchra Louasté, Mohammed Merzouki, Karima El‐Yagoubi, Layla Tahiri Elousrouti, Abdel‐Rhman Z. Gaafar, Mulugeta Tesemma, Esmael M. Alyami, Ohoud A. Alghamdi, Musa A. Said, Hina Ali, Badiaa Lyoussi, Elhoussine Derwich   +14 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