title: A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain.
abstract: A female patient of Portuguese origin, who was born to consanguineous parents, presented with moderate anemia, mild jaundice and splenomegaly. Bone marrow aspiration showed an erythroid hyperplasia and binucleate erythroblasts, evoking a congenital dyserythropoietic anemia, type II (CDA II). Although microcytosis cast some doubt on the diagnosis, investigation was pursued along this line. The CDA II was finally ruled out as underglycosylation of band 3, remnants of endoplasmic reticulum cisternae and mutations in the SEC23B gene were all missing. On the other hand, analysis of the α-globin genes showed a base substitution at codon 125 (CTG→CGG) of the α2-globin gene, ascertaining a homozygosity for Hb Plasencia (HBA2:c.377T>G). This variant has an unstable α chain. In the absence of a thorough work-up, dyserythropoietic anemia associated with hemoglobin (Hb) variants having a moderately unstable α chain, may be mistaken for CDA II.
authors.affiliation: Laboratoire d'Hématologie, Hôtel-Dieu, Paris, France.
authors.forename: Loïc
authors.initials: L
authors.lastname: Garçon
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.forename: Maria R
authors.initials: MR
authors.lastname: Esposito
authors.forename: Roberta
authors.initials: R
authors.lastname: Russo
authors.forename: Odile
authors.initials: O
authors.lastname: Fenneteau
authors.forename: Madeleine
authors.initials: M
authors.lastname: Fénéant-Thibault
authors.forename: Hermann
authors.initials: H
authors.lastname: Heimpel
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C557565:hemoglobin Plasencia