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

BACKGROUND: X-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or only mildly anaemic. XLSA is usually characterized by microcytic erythrocytes...

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Detalles Bibliográficos
Autores principales: Nzelu, Diane, Shangaris, Panicos, Story, Lisa, Smith, Frances, Piyasena, Chinthika, Alamelu, Jayanthi, Elmakky, Amira, Pelidis, Maria, Mayhew, Rachel, Sankaran, Srividhya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686580/
https://www.ncbi.nlm.nih.gov/pubmed/34930268
http://dx.doi.org/10.1186/s12920-021-01146-z