title: The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.
abstract: The clinical, haematological, biosynthetic and molecular data of three Greek haemoglobin H (HbH) disease patients with a distinctive clinical phenotype are described. During infancy all three patients had unusually severe clinical manifestations for HbH disease, with anaemia necessitating blood transfusions, signs of bone changes, growth impairment, and splenomegaly. Molecular analysis identified a rare alpha-thalassaemia genotype (--Med/ alpha Ic alpha). Splenectomy resulted in marked amelioration of the clinical signs; post splenectomy all three patients preserve adequate haemoglobin levels (9-10 g/dl) with growth restored to normal. Despite the initial severe clinical phenotype in these patients, our experience indicates that splenectomy modifies the clinical course to that of mild thalassaemia intermedia. This observation should be considered carefully when giving genetic counselling to families carrying the rare Hb Icaria mutation and an alpha zero thalassaemia mutation.
authors.affiliation: First Department of Paediatrics, University of Athens, St Sophia's Children's Hospital, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: I
authors.initials: I
authors.lastname: Papasotiriou
authors.forename: C
authors.initials: C
authors.lastname: Vrettou
authors.forename: A
authors.initials: A
authors.lastname: Metaxotou-Mavromati
authors.forename: A
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: E
authors.initials: E
authors.lastname: Lagona
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
mesh_terms: D001345:Autoradiography; D002648:Child; D005838:Genotype; D005914:Globins / Q000032:analysis / Q000235:genetics; D006115:Greece; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D009154:Mutation; D013156:Splenectomy; D017085:alpha-Thalassemia / Q000235:genetics / Q000378:metabolism* / Q000601:surgery
chemical_list: C065084:hemoglobin Icaria; D005914:Globins; D006447:Hemoglobin H