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: Piero C Giordano, Sonja Zweegman, Nicole Akkermans, Sandra G J Arkesteijn, Peter van Delft, Florens G A Versteegh, Henri Wajcman, Cornelis L Harteveld
• Journal: Hemoglobin (Hemoglobin) Vol. 31 Issue 2 Pg. 179-82 ( 2007) ISSN: 0363-0269 [Print] England
• PMID: 17486500 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Groene Hart
• Serine
• Proline

Topics

• Amino Acid Substitution
• Genetic Variation
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Netherlands
• Phenotype
• Polymorphism, Single Nucleotide
• Proline
• Serine
• Thalassemia (blood, genetics)