Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia.
10.5045/kjh.2008.43.2.118
- Author:
Hee Suk CHOUNG
1
;
Hee Jin KIM
;
Chul Won JUNG
;
Sun Hee KIM
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. sunnyhk@skku.edu
- Publication Type:Case Report
- Keywords:
X-linked sideroblastic anemia;
ALAS2;
Mutation;
R170H;
Korea
- MeSH:
Age of Onset;
Anemia, Hypochromic;
Anemia, Sideroblastic;
Bone Marrow;
Erythropoiesis;
Exons;
Genetic Diseases, Inborn;
Genetic Diseases, X-Linked;
Humans;
Korea;
Male;
Pyridoxine;
Sequence Analysis, DNA;
Young Adult
- From:Korean Journal of Hematology
2008;43(2):118-121
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
X-linked sideroblastic anemia (XLSA) is a rare hereditary disease characterized by microcytic hypochromic anemia, ineffective erythropoiesis and the presence of numerous ringed sideroblasts in the bone marrow. The causative gene is the erythroid delta-aminolaevulinate synthase 2 gene (ALAS2) on Xp11.21. We report here a case of XLSA. The patient was a 20-year-old Korean man referred to our hospital under the impression of sideroblastic anemia (SA). Laboratory findings, including a peripheral blood smearand bone marrow study, were compatible with SA. The family history was not remarkable. Based on the early age of onset, we suspected a hereditary form of SA, particularly XLSA. Direct DNA sequencing of ALAS2 detected a hemizygous c.509G>A (R170H) mutation in exon 5 of the gene. The patient showed minimal response to pyridoxine treatment. To the best of our knowledge, this is the first case of genetically confirmed XLSA from a mutation in ALAS2 in Korea.
