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.
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.
Giordano
Piero C
PC
The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl
Zweegman
Sonja
S
Akkermans
Nicole
N
Arkesteijn
Sandra G J
SG
van Delft
Peter
P
Versteegh
Florens G A
FG
Wajcman
Henri
H
Harteveld
Cornelis L
CL
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*
D006455:Hemoglobins, Abnormal; C475066:hemoglobin Groene Hart; D012694:Serine; D011392:Proline