Works matching Sideroblastic anemia

Results: 411

Recurrent sideroblastic anemia during pregnancy.

Published in:

2023

By:

Mohamed, Shehab;
Ibrahim, Firyal;
Alasafar, Mohamad Najib;
Alshurafa, Awni;
Akiki, Susanna;
Soliman, Dina;
Kohla, Samah;
Amer, Aliaa;
Qasim, Hana;
Cherif, Honar

Publication type:

Case Study

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-95590-x

By:

Jové-Solavera, Daniel;
Rámila, Marta;
Ferrer-Cortés, Xènia;
Olivella, Mireia;
Venturi, Veronica;
Morado, Marta;
Hernández-Rodríguez, Ines;
Khan, Aneal;
Pérez-Montero, Santiago;
Tornador, Cristian;
Germing, Ulrich;
Gattermann, Norbert;
Sanchez, Mayka

Publication type:

Article

X连锁铁粒幼细胞性贫血继发血色病1例并文献复习.

Published in:

Journal of Kunming Medical University / Kunming Yike Daxue Xuebao, 2024, v. 45, n. 8, p. 133, doi. 10.12259/j.issn.2095-610X.S20240819

By:

梁丽芳;
徐玉善;
李璇;
江艳

Publication type:

Article

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.

Published in:

Journal of Blood Medicine, 2020, v. 11, p. 305, doi. 10.2147/JBM.S232644

By:

Abu-Zeinah, Ghaith;
DeSancho, Maria T

Publication type:

Article

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Published in:

Annals of Hematology, 2025, v. 104, n. 4, p. 2537, doi. 10.1007/s00277-025-06266-5

By:

Rekaya, Samia;
Ben Fraj, Ilhem;
Hamdi, Rym;
Ben Taieb, Aicha;
Merdassi, Amani;
Jouini, Hamida;
Zarrouk, Hajer;
Zaiter, Ikram;
Kouki, Ridha;
Bejaoui, Mohamed;
Mellouli, Fethi;
Ben Khaled, Monia;
Ouederni, Monia

Publication type:

Article

儿童铁粒幼红细胞贫血的临床特征及基因突变谱分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2019, v. 21, n. 10, p. 1016, doi. 10.7499/j.issn.1008-8830.2019.10.012

By:

安文彬;
刘超;
万扬;
郭晔;
王书春;
张英驰;
竺晓凡

Publication type:

Article

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 6, p. 636, doi. 10.3390/jpm14060636

By:

Ogunbileje, John O.;
Harris, Neil;
Wynn, Tung;
Kashif, Reema;
Stover, Brian;
Osa-Andrews, Bremansu

Publication type:

Article

Mitochondrial Iron Metabolism and Sideroblastic Anemia.

Published in:

Acta Haematologica, 2009, v. 122, n. 2/3, p. 120, doi. 10.1159/000243796

By:

Sheftel, Alex D.;
Richardson, Des R.;
Prchal, Josef;
Ponka, Prem

Publication type:

Article

Pathophysiology and genetic mutations in congenital sideroblastic anemia.

Published in:

Pediatrics International, 2013, v. 55, n. 6, p. 675, doi. 10.1111/ped.12217

By:

Fujiwara, Tohru;
Harigae, Hideo

Publication type:

Article

Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.

Published in:

Systems Biology in Reproductive Medicine, 2016, v. 62, n. 1, p. 69, doi. 10.3109/19396368.2015.1100692

By:

Kakourou, Georgia;
Vrettou, Christina;
Kattamis, Antonis;
Destouni, Aspasia;
Poulou, Myrto;
Moutafi, Maria;
Kokkali, Georgia;
Pantos, Konstantinos;
Davies, Stephen;
Kitsiou-Tzeli, Sophia;
Kanavakis, Emmanuel;
Traeger-Synodinos, Joanne

Publication type:

Article

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.

Published in:

2021

By:

Nzelu, Diane;
Shangaris, Panicos;
Story, Lisa;
Smith, Frances;
Piyasena, Chinthika;
Alamelu, Jayanthi;
Elmakky, Amira;
Pelidis, Maria;
Mayhew, Rachel;
Sankaran, Srividhya

Publication type:

Case Study

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

Published in:

Annals of Hematology, 2013, v. 92, n. 1, p. 1, doi. 10.1007/s00277-012-1564-5

By:

Ohba, Rie;
Furuyama, Kazumichi;
Yoshida, Kenichi;
Fujiwara, Tohru;
Fukuhara, Noriko;
Onishi, Yasushi;
Manabe, Atsushi;
Ito, Etsuro;
Ozawa, Keiya;
Kojima, Seiji;
Ogawa, Seishi;
Harigae, Hideo

Publication type:

Article

Dolutegravir‐induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication.

Published in:

2023

By:

Dhonju, Kiran;
Gautam, Ashmita;
Dahal, Abhinav;
Sharma, Niraj Kumar;
Adhikari, Divas;
Devkota, Lina;
Adhikari, Prabhat;
Tuladhar, Sampurna;
Pathak, Bishnu Deep;
Banmala, Sabin

Publication type:

Case Study

Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1009988

By:

Zhongyang Ma;
Dongjun Li;
Xue Yang;
Juan Liang;
Yiping Zhu

Publication type:

Article

Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts.

Published in:

European Journal of Haematology, 2011, v. 86, n. 6, p. 512, doi. 10.1111/j.1600-0609.2011.01604.x

By:

Baumann Kreuziger, Lisa M.;
Wolanskyj, Alexandra P.;
Hanson, Curtis A.;
Steensma, David P.

Publication type:

Article

Case report Sideroblastic anaemia during fusidic acid treatment.

Published in:

2004

By:

Vial, T.;
Grignon, M.;
Daumont, M.;
Guy, C.;
Zenut, M.;
Germain, M. L.;
Jaubert, J.;
Ruivard, M.;
Guyotat, D.;
Descotes, J.

Publication type:

Book Review

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features.

Published in:

SAGE Open Medical Case Reports, 2019, v. 7, p. N.PAG, doi. 10.1177/2050313X19876710

By:

Jfri, Abdulhadi;
El-Helou, Therese;
Watters, Kevin A.;
Bélisle, Annie;
Litvinov, Ivan V.;
Netchiporouk, Elena

Publication type:

Article

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features.

Published in:

SAGE Open Medical Case Reports, 2019, v. 7, p. N.PAG, doi. 10.1177/2050313X19876710

By:

Jfri, Abdulhadi;
El-Helou, Therese;
Watters, Kevin A.;
Bélisle, Annie;
Litvinov, Ivan V.;
Netchiporouk, Elena

Publication type:

Article

Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.

Published in:

Annals of Hematology, 2024, v. 103, n. 10, p. 3987, doi. 10.1007/s00277-024-05969-5

By:

Dongerdiye, Rashmi;
Kedar, Prabhakar S.;
Saptarshi, Arati;
Sampagar, Abhilasha;
Shanmukhaiah, Chandrakala;
Mudaliar, Sangeeta;
Kanvinde, Purva;
Desai, Mukesh;
Madkaikar, Manisha

Publication type:

Article

Hereditary Sideroblastic Anaemia in 4 Siblings of a Libyan Family - Autosomal Inheritance.

Published in:

Acta Haematologica, 1982, v. 68, n. 4, p. 321, doi. 10.1159/000207001

By:

Kasturi, Jaya;
Basha, Hassan M.;
Smeda, S.H.;
Swehli, M.

Publication type:

Article

Refractory Sideroblastic Anemia Secondary to Autoimmune Hemolytic Anemia.

Published in:

Acta Haematologica, 1977, v. 58, n. 4, p. 213, doi. 10.1159/000207830

By:

Celada, A.;
Farquet, J.J.;
Muller, A.F.

Publication type:

Article

Pyridoxal-5-Phosphate-Resistant Sideroblastic Anaemia with Trisomy 8 Mosaicism in the Bone Marrow.

Published in:

Acta Haematologica, 1977, v. 57, n. 6, p. 354, doi. 10.1159/000207903

By:

Penchas, S.;
Zlotnick, A.;
Cohen, R.;
Cohen, M.M.

Publication type:

Article

Sideroblastic Anaemia Presenting as Monoarticular Arthritis.

Published in:

Acta Haematologica, 1974, v. 52, n. 3, p. 169, doi. 10.1159/000208236

By:

Kumar, Ramesh;
Garg, M.L.;
Jain, G.V.;
Maini, P.S.

Publication type:

Article

Microspectrophotometric and Electron Microscopic Studies of Bone Marrow in Hereditary Sideroblastic Anaemia.

Published in:

Acta Haematologica, 1971, v. 45, n. 4, p. 236, doi. 10.1159/000208630

By:

Wickramasinghe, S.N.;
Fulker, M.J.;
Losowsky, M.S.;
Hall, R.

Publication type:

Article

SIDEROBLASTIC ANEMIA-A HITHERTO UNRECOGNIZED CAUSE OF UNEXPLAINED ANEMIA.

Published in:

Pakistan Armed Forces Medical Journal, 2018, v. 68, n. 6, p. 1755

By:

Ahmad, Kamran Nazir;
Kamran, Shawana;
Sarfraz, Tariq;
Bangash, Khurshid Ali;
Bano, Aniqa;
Bano, Farah

Publication type:

Article

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00950-x

By:

Huang, Jinbo;
Ge, Meili;
Shao, Yingqi;
Wang, Min;
Jin, Peng;
Huo, Jiali;
Li, Xingxin;
Zhang, Jing;
Nie, Neng;
Zheng, Yizhou

Publication type:

Article

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 1, doi. 10.1007/s10875-022-01343-0

By:

Maccora, Ilaria;
Ramanan, Athimalaipet V.;
Wiseman, Daniel;
Marrani, Edoardo;
Mastrolia, Maria V.;
Simonini, Gabriele

Publication type:

Article

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

Published in:

Genes, 2022, v. 13, n. 9, p. 1562, doi. 10.3390/genes13091562

By:

Rodriguez-Sevilla, Juan Jose;
Calvo, Xavier;
Arenillas, Leonor

Publication type:

Article

Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation.

Published in:

British Journal of Haematology, 2001, v. 113, n. 4, p. 938, doi. 10.1046/j.1365-2141.2001.02855.x

By:

Ayas, Mouhab;
Al-Jefri, Abdullah;
Mustafa, Mahmoud M.;
Al-Mahr, Mohamad;
Shalaby, Loubna;
Solh, Hassan

Publication type:

Article

Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia.

Published in:

British Journal of Haematology, 2000, v. 109, n. 3, p. 658, doi. 10.1046/j.1365-2141.2000.02050.x

By:

González, M. I.;
Caballero, D.;
Vázquez, L.;
Cañizo, C.;
Hernández, R.;
López, C.;
Izarra, A.;
Arroyo, J. L.;
González, M.;
García, R.;
San Miguel, J. F.

Publication type:

Article

A novel mutation of the erythroid-specific δ-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.

Published in:

British Journal of Haematology, 1999, v. 106, n. 1, p. 175, doi. 10.1046/j.1365-2141.1999.01479.x

By:

Harigae, Hideo;
Furuyama, Kazumichi;
Kimura, Akiro;
Neriishi, Kazuo;
Tahara, Nobuyasu;
Kondo, Masao;
Hayashi, Norio;
Yamamoto, Masayuki;
Sassa, Shigeru;
Sasaki, Takeshi

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 273, doi. 10.1002/mgg3.202

By:

Méndez, Manuel;
Moreno‐Carralero, María‐Isabel;
Morado‐Arias, Marta;
Fernández‐Jiménez, María‐Cristina;
Iglesia Iñigo, Silvia;
Morán‐Jiménez, María‐José

Publication type:

Article

New Mutation in Erythroid-Specific Delta-Aminolevulinate Synthase as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine.

Published in:

Acta Haematologica, 2011, v. 125, n. 4, p. 193, doi. 10.1159/000322870

By:

Kucerova, Jana;
Horvathova, Monika;
Mojzikova, Renata;
Belohlavkova, Petra;
Cermak, Jaroslav;
Divoky, Vladimir

Publication type:

Article

New Mutation in Erythroid-Specific Delta-Aminolevulinate Synthase as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine.

Published in:

Acta Haematologica, 2011, v. 125, n. 4, p. 193, doi. 10.1159/000322870

By:

Kucerova, Jana;
Horvathova, Monika;
Mojzikova, Renata;
Belohlavkova, Petra;
Cermak, Jaroslav;
Divoky, Vladimir

Publication type:

Article

Five‐aminolevulinic acid: New approach for congenital sideroblastic anemia.

Published in:

Pediatrics International, 2018, v. 60, n. 5, p. 496, doi. 10.1111/ped.13558

By:

Ishida, Hiroyuki;
Imamura, Toshihiko;
Morimoto, Akira;
Fujiwara, Tohru;
Harigae, Hideo

Publication type:

Article

A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia.

Published in:

2015

By:

Mamun-Al-Mahtab;
Rahim, Abdur;
Noor-e-Alam, Sheikh Mohammad;
Khandokar, Faiz Ahmad;
LutfulMubin, Ahmed;
Rahman, Salimur

Publication type:

Case Study

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion.

Published in:

European Journal of Haematology, 2006, v. 77, n. 2, p. 169, doi. 10.1111/j.1600-0609.2006.00674.x

By:

Matthes, Thomas;
Rustin, Pierre;
Trachsel, Hedwige;
Darbellay, Régis;
Costaridou, S.;
Xaidara, A.;
Rideau, Alexandra;
Beris, Photis

Publication type:

Article

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.

Published in:

European Journal of Haematology, 2006, v. 76, n. 1, p. 33, doi. 10.1111/j.1600-0609.2005.00541.x

By:

Furuyama, Kazumichi;
Harigae, Hideo;
Heller, Tom;
Hamel, Ben C. J.;
Minder, Elisabeth I.;
Shimizu, Toru;
Kuribara, Tadao;
Blijlevens, Nicole;
Shibahara, Shigeki;
Sassa, Shigeru

Publication type:

Article

Rare health conditions 19: sideroblastic anaemia, autoimmune haemolytic anaemia, aplastic anaemia.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 12, p. 582, doi. 10.12968/bjha.2018.12.12.582

By:

Barber, Chris

Publication type:

Article

Zinc‐induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess.

Published in:

Clinical Case Reports, 2020, v. 8, n. 9, p. 1666, doi. 10.1002/ccr3.2987

By:

Wahab, Ahsan;
Mushtaq, Kamran;
Borak, Samuel G.;
Bellam, Naresh

Publication type:

Article

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

Published in:

Clinical Case Reports, 2018, v. 6, n. 9, p. 1841, doi. 10.1002/ccr3.1667

By:

Kim, Min Hee;
Shah, Sanjay;
Bottomley, Sylvia S.;
Shah, Niketa C.

Publication type:

Article

Congenital sideroblastic anaemia.

Published in:

Journal of Clinical & Scientific Research, 2024, v. 13, p. S65, doi. 10.4103/jcsr.jcsr_198_23

By:

Velchuri, Kavya Sree;
Shetty, Mallikarjuna;
Prasad, Adiraju Krishna;
Pentakota, Purna Surya Kiran

Publication type:

Article

Congenital sideroblastic anaemia.

Published in:

Journal of Clinical & Scientific Research, 2024, v. 13, p. S65, doi. 10.4103/jcsr.jcsr_198_23

By:

Velchuri, Kavya Sree;
Shetty, Mallikarjuna;
Prasad, Adiraju Krishna;
Pentakota, Purna Surya Kiran

Publication type:

Article

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.

Published in:

Journal of Hematology & Oncology, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13045-015-0154-0

By:

Wenbin An;
Jingliao Zhang;
Lixian Chang;
Yingchi Zhang;
Yang Wan;
Yuanyuan Ren;
Deyun Niu;
Jian Wu;
Xiaofan Zhu;
Ye Guo

Publication type:

Article

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort.

Published in:

British Journal of Haematology, 2019, v. 187, n. 4, p. 530, doi. 10.1111/bjh.16100

By:

Fouquet, Cyrielle;
Le Rouzic, Marie‐Amelyne;
Leblanc, Thierry;
Fouyssac, Fanny;
Leverger, Guy;
Hessissen, Laila;
Marlin, Sandrine;
Bourrat, Emmanuelle;
Fahd, Mony;
Raffoux, Emmanuel;
Vannier, Jean‐Pierre;
Jäkel, Nadja;
Knoefler, Ralf;
Triolo, Valerie;
Pasquet, Marlene;
Bayart, Sophie;
Thuret, Isabelle;
Lutz, Patrick;
Vermylen, Christiane;
Touati, Mohamed

Publication type:

Article

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13314, doi. 10.3390/ijms252413314

By:

Santoro, Antonella;
De Santis, Silvia;
Palmieri, Ferdinando;
Vozza, Angelo;
Agrimi, Gennaro;
Andolfo, Immacolata;
Russo, Roberta;
Palazzo, Antonio;
Storlazzi, Clelia Tiziana;
Ferrucci, Arianna;
Jun, Yong Woong;
Kool, Eric T.;
Fiermonte, Giuseppe;
Iolascon, Achille;
Paradies, Eleonora;
Marobbio, Carlo Marya Thomas;
Palmieri, Luigi

Publication type:

Article

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Published in:

Pediatric Allergy, Immunology & Pulmonology, 2022, v. 35, n. 3, p. 129, doi. 10.1089/ped.2022.0090

By:

Kisla Ekinci, Rabia Miray;
Zararsiz, Aslıhan;
Demir, Gizem Urel;
Anlas, Ozlem

Publication type:

Article

Translocation t(1;3)(p36;q21) in Sideroblastic Anaemia.

Published in:

Acta Haematologica, 1989, v. 82, n. 3, p. 146, doi. 10.1159/000205364

By:

Fukuoka, Tamotsu;
Kameoka, Hiroshi;
Yasukawa, Masaki;
Yanagisawa, Kohsuke;
Tamai, Tomonori;
Fujita, Shigeru

Publication type:

Article

Danazol Therapy in Acquired Idiopathic Sideroblastic Anemia.

Published in:

Acta Haematologica, 1987, v. 77, n. 3, p. 170, doi. 10.1159/000205984

By:

Doll, DonaldC.;
Ringenberg, Scott;
Yarbro, John W.

Publication type:

Article

Philadelphia Chromosome in Idiopathic Acquired Sideroblastic Anemia.

Published in:

Acta Haematologica, 1984, v. 72, n. 5, p. 343, doi. 10.1159/000206412

By:

Berrebi, Alain;
Bruck, Rafael;
Shtalrid, Mordechai;
Chemke, Juan

Publication type:

Article