Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Simon Berhe,Matthew M Heeney,Dean R Campagna,John F Thompson,Eric J White,Tristen Ross,Roy W A Peake, Jeffery D Hanrahan,Vilmarie Rodriguez,Deborah L Renaud,Mrinal S Patnaik, Eugenia Chang,Sylvia S Bottomley,Mark D Fleming

HAEMATOLOGICA（2018）

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摘要

The congenital sideroblastic anemias (CSAs) share the common feature of pathological intramitochondrial iron deposits in erythroid precursors. Nearly two-thirds of CSA can be attributed to a mutation in a specific nuclear-encoded gene or to mitochondrial DNA deletions,[1][1] each of which involves

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关键词

Iron Metabolism,Mitochondrial Disorders,Red Cells,Sideroblastic Anemia

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