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 The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]

Sonja Zweegman Department of Hematology, Free University Medical Center, Amsterdam, The Netherlands

Nicole Akkermans The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Sandra G.J. Arkesteijn The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Florens G.A. Versteegh Department of Paediatrics, Groene Hart Hospital, Gouda, The Netherlands

Henri Wajcman INSERM U654, Hôpital Henri Mondor, Créteil, France

Cornelis L. Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

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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 −α^3.7 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.

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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

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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

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