Cargando…

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

X-linked sideroblastic anaemia (XLSA) is an inherited disorder caused by mutations in genes encoding proteins involved in the biosynthesis of haem. The pathogenic gene, as well as the pathogenesis and diagnosis of XLSA, have been fully elucidated in previous studies. However, only a few new advances...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ma, Zhongyang, Li, Dongjun, Yang, Xue, Liang, Juan, Zhu, Yiping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705730/ https://www.ncbi.nlm.nih.gov/pubmed/36457748 http://dx.doi.org/10.3389/fgene.2022.1009988

Ejemplares similares

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review
por: Nzelu, Diane, et al.
Publicado: (2021)

Hypochromic Anaemias Not Due to Iron Deficiency: Thalassaemia and Sideroblastic Anaemia
por: Weatherall, D. J.
Publicado: (1969)

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing
por: Yu, Hui-Jin, et al.
Publicado: (2018)

Human preleukaemia cell culture studies in sideroblastic anaemia.
por: Senn, J. S., et al.
Publicado: (1976)

Sideroblastic anaemia in a patient with sickle cell disease
por: Vobugari, Nikitha, et al.
Publicado: (2022)

Strategies for Success With Umbilical Cord Haematopoietic Stem Cell Transplantation in Children With Malignant and Non-Malignant Disease Indications
por: Wynn, Rob, et al.
Publicado: (2022)

An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
por: Morales Camacho, Rosario M., et al.
Publicado: (2014)

Refractory autoimmune haemolytic anaemia following allogenic haematopoietic stem cell transplantation: successful treatment of rituximab
por: Li, Xiaofan, et al.
Publicado: (2019)

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review
por: Xiong, Shiqiu, et al.
Publicado: (2021)

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
por: Morimoto, Yuki, et al.
Publicado: (2022)

A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report
por: Fang, Youhong, et al.
Publicado: (2022)

Haematopoietic stem cell transplantation in Nigerian sickle cell anaemia children patients
por: Isgrò, Antonella, et al.
Publicado: (2015)

Preeclampsia in pregnancy affecting the stemness and differentiation potency of haematopoietic stem cell of the umbilical cord blood
por: Nordin, Fazlina, et al.
Publicado: (2020)

Successful allogeneic bone marrow transplantation for childhood-onset refractory anemia with ringed sideroblasts.
por: Kook, H., et al.
Publicado: (2000)

Awareness, Knowledge, and Acceptance of Haematopoietic Stem Cell Transplantation for Sickle Cell Anaemia in Nigeria
por: Adediran, Adewumi, et al.
Publicado: (2016)

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia
por: Shillitoe, Ben M. J., et al.
Publicado: (2021)

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
por: Riley, Lisa G, et al.
Publicado: (2013)

TNFSF15 facilitates human umbilical cord blood haematopoietic stem cell expansion by activating Notch signal pathway
por: Ding, Yahui, et al.
Publicado: (2020)

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)
por: Ohba, Rie, et al.
Publicado: (2012)

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes
por: Zhou, Jianying, et al.
Publicado: (2023)

Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia
por: Quan, Phenix-Lan, et al.
Publicado: (2010)

Autism in a Child With X-linked Agammaglobulinemia
por: Bied, Adam, et al.
Publicado: (2022)

Severe isoniazid related sideroblastic anemia
por: Piso, Rein Jan, et al.
Publicado: (2011)

Refractory anemia with ring sideroblasts and thrombocytosis
por: Pradhan, Sarita
Publicado: (2017)

Causes and Pathophysiology of Acquired Sideroblastic Anemia
por: Rodriguez-Sevilla, Juan Jose, et al.
Publicado: (2022)

Recurrent sideroblastic anemia during pregnancy
por: Mohamed, Shehab, et al.
Publicado: (2023)

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review
por: Maccora, Ilaria, et al.
Publicado: (2022)

Milking of the Umbilical Cord in Term and Late Preterm Infants
por: Basile, Stefano, et al.
Publicado: (2019)

Increased Haematopoietic Supportive Function of USSC from Umbilical Cord Blood Compared to CB MSC and Possible Role of DLK-1
por: Kluth, Simone Maria, et al.
Publicado: (2013)

Role of HLA-G and NCR in protection of umbilical cord blood haematopoietic stem cells from NK cell mediated cytotoxicity
por: Wang, Ming, et al.
Publicado: (2011)

A comparison of haematopoietic stem cells from umbilical cord blood and peripheral blood for platelet production in a microfluidic device
por: Six, Katrijn R., et al.
Publicado: (2019)

Gestational Diabetes Mellitus in Pregnancy Increased Erythropoietin Level Affecting Differentiation Potency of Haematopoietic Stem Cell of Umbilical Cord Blood
por: Mohd Idris, Mohd Razif, et al.
Publicado: (2021)

Identification of the minimum requirements for successful haematopoietic stem cell transplantation
por: Nishi, Katsuyuki, et al.
Publicado: (2021)

The acceptability to women in Mombasa, Kenya, of the donation and transfusion of umbilical cord blood for severe anaemia in young children
por: Hassall, O, et al.
Publicado: (2008)

Umbilical cord blood transplantation
por: Koo, Hong Hoe, et al.
Publicado: (2012)

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis
por: Lund, Troy C., et al.
Publicado: (2019)

A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
por: Moon, Soo Young, et al.
Publicado: (2014)

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients
por: Fang, Riguo, et al.
Publicado: (2021)

O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
por: Konzman, Daniel, et al.
Publicado: (2020)

Diurnal functional and anatomical changes in X-linked retinoschisis
por: Mautone, Luca, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_8oa9ruitdns4g5b3qu85rdb8r8