Article

De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case report

2024-02-22

Abstract excerpt

<h4>Introduction: </h4> Congenital sideroblastic anemia is a heterogeneous disorder characterized by ineffective erythropoiesis and microcytic hypochromic anemia. The phenotypic expression of CSA is variable and the most common form is X-linked, caused by mutations of delta- aminolevulinic acid synthase 2 (ALAS2).We report a novel missense mutation in the ALAS2 gene in a young Indian male patient. Case details: A...

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Literature Corpus work: 1cdfa0a5-9fae-5100-93a7-2afda657ec19
DOI: 10.21203/rs.3.rs-3973569/v1

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