This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8, which we have designated Hb Lucknow [β 8(A5)Lys→Arg] after the place of residence of the proband. This nucleotide change is associated with the IVS+5 (G→C) mutation and is speculated to produce a thalassemia intermedia phenotype in the subject
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identifica...
India has a huge burden of β-thalassemia with an estimated 100,000 patients and a prevalence of 3%–4...
Background: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity...
This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8,...
An elevated HbA<sub>2</sub> (α2δ2) level (>3.5%) is a well-established diagnostic test...
A female of Uttar Pradesh, of Indian origin, who had a transfusion-dependent child, carried codon 4 ...
We identified and characterized a novel β0-thalassemia mutation due to the deletion of 22 bases...
Among 365 carriers of β-thalassemia, 13 subjects remained uncharacterized after ARMS analysis. Among...
A novel 7 bp deletion in exon 2 of the β-globin gene in a 9-year-old boy originating from the e...
A T→C mutation in the -globin gene at codon 110 that produces the hyper unstable variant Hb Sh...
In a densely populated country like India, the most commonly inherited disorders are hemoglobinopath...
The proposita in a Sudanese family had a moderately severe thalassemia syndrome with the hemoglobin ...
There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants wi...
In recent years, the identification of a-thalassemias caused by nondeletional mutations has increase...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identifica...
India has a huge burden of β-thalassemia with an estimated 100,000 patients and a prevalence of 3%–4...
Background: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity...
This paper reports a new A→G base substitution identified in exon 1 of the β-globin gene at codon 8,...
An elevated HbA<sub>2</sub> (α2δ2) level (>3.5%) is a well-established diagnostic test...
A female of Uttar Pradesh, of Indian origin, who had a transfusion-dependent child, carried codon 4 ...
We identified and characterized a novel β0-thalassemia mutation due to the deletion of 22 bases...
Among 365 carriers of β-thalassemia, 13 subjects remained uncharacterized after ARMS analysis. Among...
A novel 7 bp deletion in exon 2 of the β-globin gene in a 9-year-old boy originating from the e...
A T→C mutation in the -globin gene at codon 110 that produces the hyper unstable variant Hb Sh...
In a densely populated country like India, the most commonly inherited disorders are hemoglobinopath...
The proposita in a Sudanese family had a moderately severe thalassemia syndrome with the hemoglobin ...
There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants wi...
In recent years, the identification of a-thalassemias caused by nondeletional mutations has increase...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identifica...
India has a huge burden of β-thalassemia with an estimated 100,000 patients and a prevalence of 3%–4...
Background: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of varying severity...
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