Korean J Hematol 2008; 43(2):
Published online June 30, 2008
https://doi.org/10.5045/kjh.2008.43.2.118
© The Korean Society of Hematology
정희숙, 김희진, 정철원, 김선희
성균관대학교 의과대학 삼성서울병원, 진단검사의학교실, 내과학교실
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 Մ-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.
Keywords X-linked sideroblastic anemia, ALAS2, Mutation, R170H, Korea
Korean J Hematol 2008; 43(2): 118-121
Published online June 30, 2008 https://doi.org/10.5045/kjh.2008.43.2.118
Copyright © The Korean Society of Hematology.
정희숙, 김희진, 정철원, 김선희
성균관대학교 의과대학 삼성서울병원, 진단검사의학교실, 내과학교실
Hee Suk Choung, Hee Jin Kim, Chul Won Jung, Sun Hee Kim
Departments of Laboratory Medicine and Genetics, Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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 Մ-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.
Keywords: X-linked sideroblastic anemia, ALAS2, Mutation, R170H, Korea
Ja Min Byun
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