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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Giordano PC,Zweegman S,Akkermans N,Arkesteijn SG,van Delft P,Versteegh FG,Wajcman H,Harteveld CLdoi
10.1080/03630260701289490subject
Has Abstractpub_date
2007-01-01 00:00:00pages
179-82issue
2eissn
0363-0269issn
1532-432Xpii
778209068journal_volume
31pub_type
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