The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

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 tran...

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Bibliographic Details
Published inBritish journal of haematology Vol. 92; no. 2; p. 332
Main Authors Kanavakis, E, Traeger-Synodinos, J, Papasotiriou, I, Vrettou, C, Metaxotou-Mavromati, A, Stamoulakatou, A, Lagona, E, Kattamis, C
Format Journal Article
LanguageEnglish
Published England 01.02.1996
Subjects
alpha-Thalassemia - genetics
alpha-Thalassemia - metabolism
alpha-Thalassemia - surgery
Autoradiography
Child
Genotype
Globins - analysis
Globins - genetics
Greece
Hemoglobin H - analysis
Humans
Mutation
Splenectomy
Greece
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Summary: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.
ISSN:0007-1048
1365-2141