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

• Main Authors: Diane Nzelu (Author), Panicos Shangaris (Author), Lisa Story (Author), Frances Smith (Author), Chinthika Piyasena (Author), Jayanthi Alamelu (Author), Amira Elmakky (Author), Maria Pelidis (Author), Rachel Mayhew (Author), Srividhya Sankaran (Author)
• Format: Book
• Published: BMC, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 eryt...