Initiation codon mutation (ATG → ATA) of the β‐globin gene causing β‐thalassemia in a Swedish family

Landin, Britta; Rudolphi, Olle; Ek, B.

doi:10.1002/ajh.2830480304

Cited by 11 publications

(3 citation statements)

References 22 publications

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“…Mutations of the ␤-globin gene initiation codon have been described in several different populations. Including the novel ATG→AAG mutation presented in this report, seven of the nine possible single-base substitutions have been reported [12][13][14][15][16][17][18][19][20][21][22]. It is of interest that the hematologic profile of the patient described in this report is more severe than typical ␤-thalassemia trait.…”

Section: Discussionmentioning

confidence: 73%

“…As noted by Landin et al [19], severe microcytic anemia appears to be a common feature associated with mutations of the initiation codon of the ␤-globin gene. A review of 35 patients from the literature, all of whom are carriers of mutations involving the initiation codon of the ␤-globin gene, reveals that both the hemoglobin level and MCV are markedly reduced relative to typical ␤thalassemia trait (Tables II and III) [23,24].…”

Section: Discussionmentioning

confidence: 84%

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De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

et al. 1997

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We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->AAG) which should give rise to beta(0)-thalassemia trait. The possibility of non-paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the beta-globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other beta(+) or beta(0) mutations.

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Section: Discussionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 84%

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

et al. 1997

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“…, 1995), (v) AT G →AT A (Saba et al. , 1992; Landin, Rudolphi & Ek, 1995), (vi). A T G→ATC (Ohba et al.…”

Section: Discussionmentioning

confidence: 99%

Common origin of a rare beta-globin initiation codon mutation (ATGAGG) in Asians

et al. 2005

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In this report, we describe two Thai siblings presenting with mild hypochromic microcytic anaemia and splenomegaly since 2(1/2) years of age. However, both patients were otherwise well with normal weight and height development and did not require transfusion during the 6-year follow-up period. Haematological and haemoglobin analyses were consistent with the clinical diagnosis of Hb E/beta-thalassaemia disease. To provide proper genetic counselling for this family, a definitive diagnosis of beta-thalassaemia was achieved using molecular analysis. We identified a rare initiation codon mutation (ATG-->AGG) of the beta-globin gene in combination with the Hb E mutation (codon 26: GAG-->AAG). The initiation codon mutation has previously been reported in several East Asian populations but has never been found in Southeast Asia and in combination with Hb E before. The haplotype analysis revealed a common origin of this mutation in the Asian population (5': - + - + + - +: 3', type IV with framework 3 according to Orkin S, et al.). Although this rare mutation abolished the beta-globin expression and was considered as beta(0)-thalassaemia, the relatively mild phenotype in our patients may be attributed to a strong association between this mutation and the -158 (G)gamma (C-->T) polymorphism, an XmnI cleavage site (+), resulting in a high propensity of postnatal gamma-globin expression and ameliorating the clinical phenotypes.

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Two different mutations in codon 97 of the β-globin gene cause Hb Malmö in Sweden

1996

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An abnormal hemoglobin with increased oxygen affinity, Hb Malmö [alpha 2 beta 297(FG4)His-->Gln], was found to cause erythrocytosis in two apparently unrelated Swedish families. Direct nucleotide sequencing of amplified DNA demonstrated a CAC-->CAA substitution in one family and a CAC-->CAG substitution in the other. Both mutations resulted in a His-->Gln substitution in codon 97. This finding prompted us to examine the possible point mutations underlying the different hemoglobin variants reported in the literature.

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Initiation codon mutation (ATG → ATA) of the β‐globin gene causing β‐thalassemia in a Swedish family

Cited by 11 publications

References 22 publications

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

Common origin of a rare beta-globin initiation codon mutation (ATGAGG) in Asians

Two different mutations in codon 97 of the β-globin gene cause Hb Malmö in Sweden

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