Lethal ALAS2 mutation in males X‐linked sideroblastic anaemia
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DOI: 10.1111/bjh.14164
Abstract: X-linked Sideroblastic Anaemia (XLSA, Mendelian Inheritance in Man reference 300751), the most common type of congenital sideroblastic anaemia (CSA), results from germline mutations in the erythroid-specific form of the 5-aminolevulinate synthase gene (ALAS2). ALAS2 is… read more here.
Keywords: linked sideroblastic; cell; sideroblastic anaemia; anaemia ... See more keywords
Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort
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DOI: 10.1111/bjh.16100
Abstract: Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron‐sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort… read more here.
Keywords: genotype phenotype; sideroblastic anaemia; phenotype correlations; congenital sideroblastic ... See more keywords
G108(P) Frontal skull bossing: The presenting feature of congenital sideroblastic anaemia
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313087.107
Abstract: A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she was noted to have frontal skull bossing and an increase in her head circumference from the 50th to… read more here.
Keywords: sideroblastic anaemia; frontal skull; congenital sideroblastic; anaemia ... See more keywords
Sideroblastic anaemia in a patient with sickle cell disease
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DOI: 10.1136/bcr-2021-246623
Abstract: Sideroblastic anaemia is a rare condition. We report a unique case of concomitant sideroblastic anaemia in a patient with sickle cell disease with long-standing blood transfusion history. Due to a low prevalence of sideroblastic anaemia,… read more here.
Keywords: cell disease; sickle cell; anaemia; sideroblastic anaemia ... See more keywords