In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormal...

Delta-thalassemia is a complex group of inherited disorders of globin genes characterized by impaired synthesis of the &globin chain. The T-C substitution was detected at position -77 of the &globin gene isolated from three independent Japanese individuals who were homozygotes for ti-thalassemia. To elucidate the significance of the mutation in &globin gene expression, we investigated the genot...

Background: b-Thalassemia is a common autosomal recessive disorder in human caused by a defect in b-globin chain synthesis. The most common mutations causing b-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of norma...

Hemoglobin (Hb) Suan-Dok (a1osAr9) is a rare a-globin structural mutation that is linked to an a-thalassemia (a-thal) determinant. When inherited in trans to an a-thal-I mutation (-1, it results in Hb H disease associated with low levels (9%) of the Suan-Dok Hb. The nature of the thalassemic defect associated with the as’ mutation has been investigated by structural and functional studies. Sequ...

We characterized the molecular defect in a Swiss patient with a spontaneous beta-thalassemia mutation. Cloning and DNA sequencing of her beta-globin gene revealed a new frameshift mutation due to a single nucleotide deletion at codon 64 of the beta-globin gene. Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reacti...

Alpha-thalassemias are characterized by decreased hemoglobin alpha chain synthesis; alpha-zerothalassemia being the condition where no normal alpha globin is produced, and alpha-plus-thalassemia being the condition where there is reduced globin production. There are two alpha globin genes per haploid genome, and alpha thalassemia abnormalities can result from one to four gene deletions. A singl...

Activation of γ-globin gene expression in adults is known to be therapeutic for sickle cell disease. Thus, it follows that the converse, alleviation of repression, would be equally effective, since the net result would be the same: an increase in fetal hemoglobin. A GATA-1-FOG-1-Mi2 repressor complex was recently demonstrated to be recruited to the -566 GATA motif of the (A)γ-globin gene. We sh...

Alpha-thalassemias are characterized by decreased hemoglobin alpha chain synthesis; alpha-zerothalassemia being the condition where no normal alpha globin is produced, and alpha-plus-thalassemia being the condition where there is reduced globin production. There are two alpha globin genes per haploid genome, and alpha thalassemia abnormalities can result from one to four gene deletions. A singl...