Hb Agrinio [α29(B10)Leu→Pro (α2)] in Combination with – –^{MED I} Results in a Severe Form of Hb H Disease

Abstract

We report two cases of compound heterozygote patients for the – –^{MED I} and Hb Agrinio [α29(B10)Leu→Pro (α2)] anomalies in two unrelated Greek Cypriot families. The first patient had a serious form of Hb H disease and died at the age of 21 due to complications arising during an operation. The second patient showed a severe hematological picture and has been regularly transfused since an early age. This patient exhibits bone abnormalities as well as hepatosplenomegaly. The severity of these two incidences emphasizes the need for the inclusion of a screening test for the – –^{MED I}/α^Agrinioα genotype among those already offered during prenatal diagnosis. Two homozygotes, as well as a number of simple, compound, and double heterozygotes for Hb Agrinio have been identified in Cyprus and their hematological indices are presented.

Keywords:

• – –^{MED I}/Hb Agrinio
• α-Globin gene
• Hb H disease
• Prenatal diagnosis