title: The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] 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.
authors.affiliation: The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Sonja
authors.initials: S
authors.lastname: Zweegman
authors.forename: Nicole
authors.initials: N
authors.lastname: Akkermans
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: Peter
authors.initials: P
authors.lastname: van Delft
authors.forename: Florens G A
authors.initials: FG
authors.lastname: Versteegh
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D019943:Amino Acid Substitution; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009426:Netherlands; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011392:Proline; D012694:Serine; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C475066:hemoglobin Groene Hart; D012694:Serine; D011392:Proline