The first case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant

Abstract

Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -α3.7 deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild α-thalassemia (thal) phenotype, presumably due to a modification of the α-globin chain domain that is recognized by the a hemoglobin stabilizing protein (AHSP). The present case of Hb Groene Hart homozygosity, confirms that the α-thal phenotype is associated with this α-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population. Copyright © Informa Healthcare.