THE INTERACTION OF ALPHA-DEGREES THALASSEMIA WITH HB ICARIA - 3 UNUSUAL CASES OF HEMOGLOBINOPATHY-H

The clinical, haematological, biosynthetic and molecular data of three Greek haemoglobin H (HbH) disease patients with a distinctive clinica l phenotype are described. During infancy all three patients had unusu ally severe clinical manifestations for HbH disease, with anaemia nece ssitating blood transfusions, signs of bone changes, growth impairment , and splenomegaly. Molecular analysis identified a rare alpha-thalass aemia genotype (--(Med)/alpha(Ic)alpha). Splenectomy resulted in marke d amelioration of the clinical signs; post splenectomy all three patie nts preserve adequate haemoglobin levels (9-10 g/dl) with growth resto red to normal. Despite the initial severe clinical phenotype in these patients, our experience indicates that splenectomy modifies the clini cal course to that of mild thalassaemia intermedia. This observation s hould be considered carefully when giving genetic counselling to famil ies carrying the rare Hb Icaria mutation and an alpha degrees thalassa emia mutation.