Results 31 to 40 of about 170,027 (191)

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

Frontiers in Pediatrics, 2021
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide.
Shiqiu Xiong, Yang Jia, Shijun Li, Peng Huang, Peng Huang, Jie Xiong, Jie Xiong, Dingan Mao, Dingan Mao, Qingnan He, Liqun Liu, Liqun Liu   +11 more
doaj   +1 more source

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

J Gene Med
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
Yazdanparast S, Galehdari H, Khatami S, Hoveizi E, Jaseb K.   +4 more
europepmc   +2 more sources

Sideroblastic anemias

Therapeutische Umschau. Revue therapeutique, 2006
Chapter on pathogenesis and clinical features of sideroblastic anemias. Males with hereditary X-linked sideroblastic anemia may present in the first two decades of life with symptoms of anemia, or later with either anemia and/or symptoms and signs of ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
core   +2 more sources

Recurrent sideroblastic anemia during pregnancy

Clinical Case Reports, 2023
Sideroblastic anemia is a heterogeneous group of disorders typified by the presence of ring sideroblasts in the bone marrow and has congenital and acquired types. Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐year‐old female
Shehab Mohamed, Firyal Ibrahim, Mohamad Najib Alasafar, Awni Alshurafa, Susanna Akiki, Dina Soliman, Samah Kohla, Aliaa Amer, Hana Qasim, Honar Cherif   +9 more
doaj   +1 more source

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

Hemasphere
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 ...
Makis A, Saougou I, Hatzimichael E.
europepmc   +2 more sources

A rare case of isoniazid induced sideroblastic anemia [PDF]

, 2023
Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Gulati, Shipra, Hari, Arjun B., Chawla, Kunal, Dessai, Rishikesh   +3 more
core   +1 more source

A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION

Hematology, Transfusion and Cell Therapy, 2021
Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency ...
Fatma Tuba YILDIRIM, Elif Benderlioğlu, Dilek Kaçar, Neşe Yaralı   +3 more
doaj   +1 more source

Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease

Annals of Internal Medicine: Clinical Cases, 2023
D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
doaj   +1 more source

Prospective Study of Targeted Busulfan-Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases. [PDF]

Eur J Haematol
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.
Kim BK, Hong KT, Choi JY, Park HJ, Yu KS, Jang IJ, Kang HJ.   +6 more
europepmc   +2 more sources

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj   +1 more source