title: Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote.
authors.affiliation: Clinical Haematology Department, Centro Hospitalar São João, Oporto, Portugal. elianavaleaguiar@gmail.com.
authors.forename: Eliana
authors.initials: E
authors.lastname: Aguiar
authors.forename: Maria Inês
authors.initials: MI
authors.lastname: Freitas
authors.forename: José
authors.initials: J
authors.lastname: Barbot
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000097:blood / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics; D004912:Erythrocytes; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000235:genetics*; D057898:Hemizygote; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human