Ann Lab Med.  2014 Mar;34(2):159-162. 10.3343/alm.2014.34.2.159.

A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia

• Moon SY
• Jun IJ
• Kim JE
• Lee SJ
• Kim HK
• Yoon SS

• KMID: 1791912
• DOI: http://doi.org/10.3343/alm.2014.34.2.159

Abstract

No abstract available.

MeSH Terms

5-Aminolevulinate Synthetase/chemistry/*genetics
Adult
Anemia, Sideroblastic/*genetics/pathology
Asian Continental Ancestry Group/*genetics
Base Sequence
Genetic Diseases, X-Linked/*genetics/pathology
Hemizygote
Humans
Male
Mutation, Missense
Polymorphism, Single Nucleotide
Republic of Korea
5-Aminolevulinate Synthetase

Figure

• 

  Fig. 1 (A) Peripheral blood smear showing dimorphic red blood cells (RBCs) including microcytic hypochromic RBCs with severe anisopoikilocytosis (Wright-Giemsa stain, ×1,000). (B) Bone marrow (BM) aspirate smear showing marked increase of erythroid precursors (Wright-Giemsa stain, ×1,000). (C) Iron stain of BM aspirate showing many ringed sideroblasts, which accounted for up to 50% of the total erythroid precursors (Prussian blue stain, ×1,000).

• 

  Fig. 2 Direct sequencing of the ALAS2 gene showing a hemizygous c.1253T>G (between red lines) missense mutation in exon 9, which results in the conversion of isoleucine to serine at the 418th amino acid (p.I418S).

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