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.
Artículo
en Coreano
| WPRIM
| ID: wpr-720522
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Piridoxina
/
Médula Ósea
/
Exones
/
Análisis de Secuencia de ADN
/
Edad de Inicio
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Eritropoyesis
/
Enfermedades Genéticas Congénitas
/
Anemia Hipocrómica
/
Anemia Sideroblástica
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Korean Journal of Hematology
Año:
2008
Tipo del documento:
Artículo
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