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; Sonja Zweegman; Nicole Akkermans; Sandra G J Arkesteijn; Peter Van Delft; Florens G A Versteegh; Henri Wajcman; Cornelis L. Harteveld

doi:https://doi.org/10.1080/03630260701289490

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, Sonja Zweegman, Nicole Akkermans, Sandra G J Arkesteijn, Peter Van Delft, Florens G A Versteegh, Henri Wajcman, Cornelis L. Harteveld

Hematology (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

Abstract

Hb Groene Hart [a119(H2)Pro -> Ser, CCT -> TCT (alpha 1)] 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 a-thalassemia (thal) phenotype, presumably due to a modification of the a-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 a-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.

Original language	English
Pages (from-to)	179-182
Number of pages	4
Journal	Hemoglobin
Volume	31
Issue number	2
DOIs	https://doi.org/10.1080/03630260701289490
Publication status	Published - Apr 2007

Keywords

Abnormal hemoglobin (Hb)
α Hb stabilizing protein (AHSP)
α-Thalassemia (thal)

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Cite this

Giordano, P. C., Zweegman, S., Akkermans, N., Arkesteijn, S. G. J., Van Delft, P., Versteegh, F. G. A., Wajcman, H., & Harteveld, C. L. (2007). 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. Hemoglobin, 31(2), 179-182. https://doi.org/10.1080/03630260701289490

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title = "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",

abstract = "Hb Groene Hart [a119(H2)Pro -> Ser, CCT -> TCT (alpha 1)] 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 a-thalassemia (thal) phenotype, presumably due to a modification of the a-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 a-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.",

keywords = "Abnormal hemoglobin (Hb), α Hb stabilizing protein (AHSP), α-Thalassemia (thal)",

author = "Giordano, {Piero C.} and Sonja Zweegman and Nicole Akkermans and Arkesteijn, {Sandra G J} and {Van Delft}, Peter and Versteegh, {Florens G A} and Henri Wajcman and Harteveld, {Cornelis L.}",

year = "2007",

month = apr,

doi = "https://doi.org/10.1080/03630260701289490",

language = "English",

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pages = "179--182",

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Giordano, PC, Zweegman, S, Akkermans, N, Arkesteijn, SGJ, Van Delft, P, Versteegh, FGA, Wajcman, H & Harteveld, CL 2007, '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', Hemoglobin, vol. 31, no. 2, pp. 179-182. https://doi.org/10.1080/03630260701289490

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. / Giordano, Piero C.; Zweegman, Sonja; Akkermans, Nicole et al.
In: Hemoglobin, Vol. 31, No. 2, 04.2007, p. 179-182.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Giordano, Piero C.

AU - Zweegman, Sonja

AU - Akkermans, Nicole

AU - Arkesteijn, Sandra G J

AU - Van Delft, Peter

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AB - Hb Groene Hart [a119(H2)Pro -> Ser, CCT -> TCT (alpha 1)] 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 a-thalassemia (thal) phenotype, presumably due to a modification of the a-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 a-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.

KW - Abnormal hemoglobin (Hb)

KW - α Hb stabilizing protein (AHSP)

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