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
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-02-766881
Abstract: ![Figure][1] A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed. Initial workup revealed hemoglobin 2.6 g/dL (10.2-12.7), hematocrit 7.7% (30.9-37.9), mean corpuscular volume 104 fL (71.3-82.6), white blood cell count 4200/μL (240 absolute… read more here.
Keywords: infant pearson; syndrome rare; congenital sideroblastic; cause congenital ... See more keywords
Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.847045
Abstract: Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors. A common hallmark underlying these pathological conditions is mitochondrial dysfunction due to altered protein… read more here.
Keywords: function; congenital sideroblastic; sideroblastic anemia; mitochondrial dysfunction ... See more keywords