A DYSERYTHROPOIETIC ANEMIA ASSOCIATED WITH HOMOZYGOUS Hb PLASENCIA [alpha 125(H8)Leu -> Arg (alpha 2)] (HBA2:c.377T > G), A VARIANT WITH AN UNSTABLE alpha CHAIN

作者：Garcon Loic; Iolascon Achille; Pissard Serge; Esposito Maria R; Russo Roberta; Fenneteau Odile; Feneant Thibault Madeleine; Heimpel Hermann; Delaunay Jean^*

来源：Hemoglobin, 2010, 34(6): 576-581.

DOI：10.3109/03630269.2010.526922

• Dyserythropoietic anemia
• Homozygous Hb Plasencia

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 alpha-globin genes showed a base substitution at codon 125 (CTG -> CGG) of the alpha 2-globin gene, ascertaining a homozygosity for Hb Plasencia (HBA2:c.377T > G). This variant has an unstable a chain. In the absence of a thorough work-up, dyserythropoietic anemia associated with hemoglobin (Hb) variants having a moderately unstable alpha chain, may be mistaken for CDA II.

• 出版日期2010