The First Case of Hb Groene Hart [α119(H2)Pro→Ser,<i>C</i>CT→<i>T</i>CT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

Abstract

Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably due to a modification of the alpha-globin chain domain that is recognized by the a hemoglobin stabilizing protein (AHSP). The present case of Hb Groene Hart homozygosity, confirms that the alpha-thal phenotype is associated with this alpha-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.