Thalassaemias are the most common inherited autosomal recessive single gene disorders characterised by chronic hereditary haemolytic anaemia due to absence or reduced synthesis of one or more of the globin chains. Haemoglobin E (HbE)-beta-thalassaemia is the genotype responsible for approximately one-...
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slight...
Since the Iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. The aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic ...
The globin portion of hemoglobin consists of two α chains and two β chains arranged in pairs forming a tetramer. Each of the four globin chains covalently associates with a heme group. The bonds between α and β chains are weaker than between similar globin chains, thereby forming a ...
In order to determine whether any heterogeneity exists in the human α-globin chain, i.e. whether the products of the duplicated genes are identical, we have determined the total sequence of 14 α-globin chains: seven of these were abnormal, while six were normal chains from the same ...
A new mutation in IVS-I of the human β-globin gene causing β-thalassemia due to abnormal splicing We have studied a Chinese family in which beta-thalassemia and delta beta-thalassemia were found in simple and compound heterozygous states. The delta beta-thalassemia heterozygote (the mother) ha...
We describe the characterization of an alpha+-thalassaemia determinant as a result of a transition of G-->A of the donor splice consensus site sequence of the first intron of the alpha1-globin gene (alpha1IVS I-1). The mutation was found in combination with the South-East Asian alpha0-...
The mild homozygous beta zero-thalassemia in this family may result from interactions of a non-deletion alpha-thalassemia, a gene responsible for high proteolytic activity permitting more balanced globin-chain levels, or from an unusually active hemoglobin F production in the proposita. 展开 ...
Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children[J]. BMC Res Notes, 2016, 9: 220....
Results: DNA fromd thalassemia carriers was tested for the presence of different types of globin gene deletion (s). The - 3.7 and - 4.2 single gene deletions, and the Mediterranean (-- MED and - 20.5) double gene deletions were found in some samples. Conclusion: The - 3.7 deletion was ...