(Q37226596)

19 August 2017

1 reference

title

Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia (English)

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19 August 2017

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5

Cornelis L Harteveld

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19 August 2017

Jan Traeger-Synodinos

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author name string

Henri Wajcman

1

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19 August 2017

Jan Traeger-Synodinos

2

1 reference

19 August 2017

Ioannis Papassotiriou

3

1 reference

19 August 2017

Piero C Giordano

4

1 reference

19 August 2017

Véronique Baudin-Creuza

6

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19 August 2017

John Old

7

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19 August 2017

language of work or name

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1 January 2008

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19 August 2017

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19 August 2017

volume

32

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19 August 2017

issue

4

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19 August 2017

page(s)

327-349

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Haemoglobin Constant Spring--a chain termination mutant?

19 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Molecular characterization and origins of Hb Constant Spring and Hb Paksé in Southeast Asian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Thalassemias and other hemoglobinopathies in the Republic of Macedonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hydrops fetalis associated with homozygosity for hemoglobin Taybe (alpha 38/39 THR deletion) in newborn triplets

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

An erythroid chaperone that facilitates folding of alpha-globin subunits for hemoglobin synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC-->TAC (alpha2)]: an unstable hemoglobin variant found in an Indian child.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Investigation of persistent hypochromic microcytosis unmasks hemoglobin Evanston [alpha 14 (A12) Try--> Arg] in a patient of cyclic thrombocytopenia preceding Takayasu's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Current status of thalassemia in minority populations in Guangxi, China

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

First description in Tunisia of a point mutation at codon 119 (CCT-->TCT) in the alpha1-globin gene: Hb Groene Hart in association with the -alpha3.7 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Impaired binding of AHSP to alpha chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with alpha thalassemic like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Bronte or alpha93(FG5)Val-->Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Structure of oxidized alpha-haemoglobin bound to AHSP reveals a protective mechanism for haem

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Hb Watts [alpha 74(EF3) or alpha 75(EF4)Asp-->0]: a shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha 2-globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F03630260802173833

10.1080/03630260802173833

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference