Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia
Korean Journal of Hematology
; : 118-121, 2008.
Article
em Ko
| WPRIM
| ID: wpr-720522
Biblioteca responsável:
WPRO
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.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Piridoxina
/
Medula Óssea
/
Éxons
/
Análise de Sequência de DNA
/
Idade de Início
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Eritropoese
/
Doenças Genéticas Inatas
/
Anemia Hipocrômica
/
Anemia Sideroblástica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
Ko
Revista:
Korean Journal of Hematology
Ano de publicação:
2008
Tipo de documento:
Article