Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT&gt;CCT, Ser&gt;Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management

Stamoulakatou, Alexandra; Athanasiou-Metaxa, Miranda; Traeger-Synodinos, Joanne; Lazaropoulou, Christina; Harteveld, Kees L.; Premetis, Evangelos; Tsantali, Haido; Zorai, Amine; Giordano, Piero C.; Papassotiriou, Ioannis; Kanavakis, Emmanuel

doi:10.1016/j.bcmd.2003.10.009

Blood Cells, Molecules, and Diseases

2004

DOI: 10.1016/j.bcmd.2003.10.009

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Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT>CCT, Ser>Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management

Alexandra Stamoulakatou

Miranda Athanasiou-Metaxa

Joanne Traeger-Synodinos

et al.

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Cited by 6 publications

(1 citation statement)

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“…Hb Adana in combination with an a 0 type deletion in trans was found to lead to a severe Hb H hydrops fetalis-like clinical condition (10). In addition, several other point mutations leading to hyperunstable a-globin variants in combination with a 0 deletions (11 -13) or even a + mutations (13,14), were shown to produce severe clinical phenotypes. Analogously, it can be predicted that the present mutation, in a compound heterozygous state with an a 0 -or certain a + -thal alleles, should lead to a clinically severe type of Hb H disease.…”

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confidence: 97%

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Dutly¹,

Fehr

Goede

et al. 2004

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confidence: 97%

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Dutly¹,

Fehr

Goede

et al. 2004

Hemoglobin

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Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β⁺-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family

et al. 2006

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We report clinical, hematological, biochemical, functional and molecular studies carried out on two first cousins from a Greek-Albanian family who have clinical and hematological findings consistent with the diagnosis of thalassemia intermedia. DNA studies determined that they had co-inherited a common Mediterranean beta-thalassemia (thal) mutation, IVS-I-110 (G-->A), in trans to a beta-globin gene mutation at codon 107 (GGC-->GAC), predicted to give rise to a rare unstable beta chain variant Hb Lulu Island or beta107(G9)Gly-->Asp.

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Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

et al. 2008

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We report an update of the alpha-globin gene point mutations resulting in structural modification associated with an alpha-thalassemia (alpha-thal) phenotype. These variants, barely symptomatic in the heterozygous state, are either unstable due to folding defects and/or defects in binding to alpha-hemoglobin stabilizing protein (AHSP). This is predicted to result in precipitation of the unstable alpha chains or Hb variant, a concomitant decrease in the overall quantity of normal alpha-globin in the red cells and a potential degree of anemia and possibly, hemolysis. Genotype/phenotype correlation and potential genetic risk in combination with common or less common alpha-thal defects are discussed.

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Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT>CCT, Ser>Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management

Cited by 6 publications

References 16 publications

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β⁺-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family

Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

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Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT>CCT, Ser>Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management

Cited by 6 publications

References 16 publications

A New Highly Unstable α Chain Variant Causing α+‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

A New Highly Unstable α Chain Variant Causing α+‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β+-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family

Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

Contact Info

Product

Resources

About

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

A New Highly Unstable α Chain Variant Causing α⁺‐Thalassemia: Hb Zurich Albisrieden [α59(E8)Gly→Arg (α2)]

Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β⁺-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family