Hb Groene Hart [a119(H2)Pro -> Ser, CCT -> TCT (alpha 1)] 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 a-thalassemia (thal) phenotype, presumably due to a modification of the a-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 a-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.
- Abnormal hemoglobin (Hb)
- α Hb stabilizing protein (AHSP)
- α-Thalassemia (thal)