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

Piero C. Giordano, Sonja Zweegman, Nicole Akkermans, Sandra G J Arkesteijn, Peter Van Delft, Florens G A Versteegh, Henri Wajcman, Cornelis L. Harteveld

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)179-182
Number of pages4
JournalHemoglobin
Volume31
Issue number2
DOIs
Publication statusPublished - Apr 2007

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