Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia.
Herein, we used the same β(654)-thalassaemia mouse model to develop a therapy involving direct delivery of siRNA and antisense RNA plasmids via intravenous injection to simultaneously knock down α-globin transcript levels and restore correct β-globin splicing.
Thalassemias are a group of inherited autosomal recessive hematologic disorders that occur because of defects in the alpha (α)- and beta (β)-globin genes of adult hemoglobin (Hb).
Frequency of the G allele in the polymorphic palindromic sequence of 5'HS4 (TGGGG A/G CCCCA) and positive Xmn1-HBG2 profile was significantly higher in thalassemia patients compared to the normal population.
In the 100 cases studied, 99 cases had --(SEA) in combination with deletional alpha(+)-thalassaemia or non-deletional alpha-globin gene mutation involving the alpha2-globin gene.
DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.
We cloned and mapped 35 kbp of normal DNA from this region (greater than 45 kbp downstream of the human beta-globin gene) that contains the 3' breakpoints of the Chinese thalassemia and the two HPFH deletions.
The enormous progress in the technique for β-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management.
It results from a 7.4-kb deletion that removes the delta-globin coding sequences, the delta beta intergenic region as well as the beta-globin gene promoter and causes delta(0)beta(+) thalassemia with hemoglobin A expressed at the 11% to 15% range.
Premarital screening studies in families in which only one of the parents has typical aspects of β-thalassemia trait and the other has a normal HbA2 level associated with abnormal red cell indices becomes a necessity to avoid missingthalassemia carriers.
The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed.
The phenotype of thalassemia intermedia with marked dyserythropoiesis, found in patients inheriting alpha-thalassemia mutations along with unstable alpha-globin variants (i.e., alpha-thalassemic hemoglobinopathies), represents a distinct type of thalassemic syndrome.
Subjects with [--/alpha Th alpha] alpha-globin genotype had more severe thalassemia-like manifestations than those with [--/-alpha] alpha-globin genotype.
These results, without undermining the strength of BCL11A as a silencer of the γ globin gene, suggest that the LCR background, by governing the state of BCL11A binding to this region, plays a more significant role in determining the thalassemia phenotype than the level of BCL11A protein expression, that might be influenced by single nucleotide polymorphisms in intronic regions of the BCL11A gene.
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression.