An alpha-2 Globin Gene Initiation Codon Mutation in a Vietnamese Patient with Hb H Disease

1998 ◽  
Vol 850 (1 COOLEY'S ANEM) ◽  
pp. 398-400
Author(s):  
F. KUTLAR ◽  
T. V. ADAMKIEWICZ ◽  
R. B. MARKOWITZ ◽  
L. HOLLEY ◽  
A. KUTLAR
Keyword(s):  
Globin Gene ◽  
Initiation Codon ◽  
Hb H Disease ◽  
Codon Mutation

A Rare Association of α0-Thalassemia (– –SEA) and an Initiation Codon Mutation (ATG→A-G) of the α2 Gene Causes Hb H Disease in Thailand

Hemoglobin ◽  
2005 ◽  
Vol 29 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Vip Viprakasit ◽  
Worrawut Chinchang ◽  
Waraporn Glomglao ◽  
Voravarn S Tanphaichitr
Keyword(s):  
Initiation Codon ◽  
Rare Association ◽  
Hb H Disease ◽  
Codon Mutation

scholarly journals AN INITIATION CODON MUTATION IN THE α1 GLOBIN GENE OF A BLACK FAMILY WITH HbH DISEASE

1987 ◽  
Vol 21 (4) ◽  
pp. 303A-303A
Author(s):  
Nancy F Olivieri ◽  
Annette O Poon ◽  
Lebe S Chang ◽  
Alan M Michelson ◽  
Stuart H Orkin
Keyword(s):  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Codon Mutation ◽  
Hbh Disease

scholarly journals An alpha-globin gene initiation codon mutation in a black family with HbH disease

Blood ◽  
1987 ◽  
Vol 70 (3) ◽  
pp. 729-732 ◽  
Author(s):  
NF Olivieri ◽  
LS Chang ◽  
AO Poon ◽  
AM Michelson ◽  
SH Orkin
Keyword(s):  
Molecular Basis ◽  
Restriction Site ◽  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Cloning And Sequencing ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Codon Mutation ◽  
Thalassemia Mutation

Abstract The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A---- G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.

De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a swiss family

1993 ◽  
Vol 42 (3) ◽  
pp. 248-253 ◽  
Author(s):  
P. Beris ◽  
R. Darbellay ◽  
D. Speiser ◽  
V. Kirchner ◽  
P. A. Miescher
Keyword(s):  
De Novo ◽  
Globin Gene ◽  
Initiation Codon ◽  
Codon Mutation

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C)

Hemoglobin ◽  
2019 ◽  
Vol 43 (4-5) ◽  
pp. 241-244 ◽  
Author(s):  
Ya-Li Lei ◽  
Hong Sui ◽  
Yu-Juan Liu ◽  
Jun-Jun Pan ◽  
Yan-Hui Liu ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Translation Initiation Codon ◽  
Codon Mutation

Novel Mutation of the α2-Globin Gene Initiation Codon (Atg→A-G) in a Vietnamese Girl with Hb H Disease

Hemoglobin ◽  
1997 ◽  
Vol 21 (5) ◽  
pp. 469-472 ◽  
Author(s):  
J. S. Waye ◽  
B. Eng ◽  
M. Patterson ◽  
D. H.K. Chui ◽  
E. Nisbet-Brown ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Globin Gene ◽  
Initiation Codon ◽  
Hb H Disease

scholarly journals An alpha-globin gene initiation codon mutation in a black family with HbH disease

Blood ◽  
1987 ◽  
Vol 70 (3) ◽  
pp. 729-732
Author(s):  
NF Olivieri ◽  
LS Chang ◽  
AO Poon ◽  
AM Michelson ◽  
SH Orkin
Keyword(s):  
Molecular Basis ◽  
Restriction Site ◽  
Black Family ◽  
Globin Gene ◽  
Initiation Codon ◽  
Cloning And Sequencing ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Codon Mutation ◽  
Thalassemia Mutation

The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A---- G substitution, in the initiation codon of the remaining alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.

scholarly journals The polyadenylation site mutation in the alpha-globin gene cluster

Blood ◽  
1988 ◽  
Vol 71 (2) ◽  
pp. 313-319 ◽  
Author(s):  
SL Thein ◽  
RB Wallace ◽  
L Pressley ◽  
JB Clegg ◽  
DJ Weatherall ◽  
...  
Keyword(s):  
Middle Eastern ◽  
Globin Gene ◽  
Saudi Arabian ◽  
Polyadenylation Signal ◽  
Enzyme Analysis ◽  
Restriction Enzyme Analysis ◽  
Site Mutation ◽  
Mediterranean Populations ◽  
Alpha Globin ◽  
Hb H Disease

In a previous study, we described a form of nondeletion alpha- thalassemia (alpha T Saudi alpha) found in subjects of Saudi Arabian origin. In the current study, using synthetic oligoprobe hybridization and restriction enzyme analysis, we have demonstrated that the molecular basis of alpha T Saudi alpha is due solely to a single base mutation (AATAAA----AATAAG) in the polyadenylation signal of the alpha 2 gene and that the frameshift mutation in codon 14 of the linked alpha 1 gene is the result of a cloning artefact. The alpha 2 polyadenylation signal mutation occurs in other Middle Eastern and the Mediterranean populations and is responsible for the clinical phenotype of Hb H disease in some Saudi Arabian individuals with five alpha genes (alpha T Saudi alpha/(alpha alpha alpha)T Saudi). Evidence suggests that the (alpha alpha alpha)T Saudi haplotype has arisen as a result of a recombination between two misaligned chromosomes bearing the alpha T Saudi alpha defect.

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