A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

Ann Hematol. 2017 Nov;96(11):1955-1957. doi: 10.1007/s00277-017-3106-7. Epub 2017 Aug 24.

Authors

Tohru Fujiwara¹, Noriko Fukuhara¹, Satoshi Ichikawa¹, Masahiro Kobayashi¹, Yoko Okitsu¹, Yasushi Onishi¹, Kazumichi Furuyama², Hideo Harigae³

Affiliations

¹ Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575, Japan.
² Department of Molecular Biochemistry, Iwate Medical University School of Medicine, Morioka, Japan.
³ Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575, Japan. harigae@med.tohoku.ac.jp.

PMID: 28840292
DOI: 10.1007/s00277-017-3106-7

No abstract available

Publication types

Case Reports
Letter
Review

MeSH terms

5-Aminolevulinate Synthetase / genetics*
Anemia, Sideroblastic / diagnosis*
Anemia, Sideroblastic / genetics*
Anemia, Sideroblastic / pathology
DNA Mutational Analysis
Diagnosis, Differential
Erythroid Precursor Cells / pathology*
Female
Germ-Line Mutation*
Heterozygote
Humans
Middle Aged
Myelodysplastic Syndromes / diagnosis*
Myelodysplastic Syndromes / genetics

Substances

5-Aminolevulinate Synthetase
ALAS2 protein, human