Onset of X-linked sideroblastic anemia in the fourth decade.
We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.
Cortesão
Emília
E
Vidan
Júlia
J
Pereira
Janet
J
Gonçalves
Paula
P
Ribeiro
Maria Letícia
ML
Tamagnini
Gabriel
G
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D000756:Anemia, Sideroblastic / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D004920:Erythropoiesis / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D050172:Genes, X-Linked; D006579:Heterozygote; D006801:Humans; D019190:Iron Overload / Q000209:etiology; D012333:RNA, Messenger / Q000097:blood; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D049951:X Chromosome Inactivation
D012333:RNA, Messenger; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human