Article
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.
Annals of clinical and laboratory science - 1 May 2017
Lee Jee-Soo, Gu JaYoon, Yoo Hyun Ju, Koh Youngil, Kim Hyun Kyung
Abstract excerpt
We report a novel ALAS2 gene mutation c.1315A>G (p.Lys439Glu) identified in a family, which caused evidently different hematologic phenotypes. The proband was a 17-year-old man with severe microcytic hypochromic anemia, excessive ring sideroblasts in the bone marrow, and iron overload. A hemizygous ALAS2 mutation in exon 9, c.1315A>G (p.Lys439Glu), was identified through sequence analysis. We assume that this...
Topics
- 5-Aminolevulinate Synthetase
- Adolescent
- Anemia, Sideroblastic
- Female
- Genetic Diseases, X-Linked
- Heterozygote
- Humans
- Iron Overload
- Male
- Mutation, Missense
- Pedigree
- Phenotype
- Pyridoxal Phosphate
- Pyridoxine