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Article

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

23 Jul 2019

Abstract excerpt

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 of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the...

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PMID: 31338833
DOI: 10.1111/bjh.16100

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