Alpha Globin Gene Mutation: A Major Determinant of Hydroxyurea Response in Transfusion-Dependent HbE-beta-ThalassaemiaHbE-beta-thalassaemiaHydroxyureaalpha-DeletionFoetal haemoglobinThalassaemias are the most common inherited autosomal recessive single gene disorders characterised by chronic hereditary haemolytic ...
MazandaranmutationthalassemiaIt is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha-thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha-globin mutations in potential carriers with hypochromic and microcytic ...
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematologi- cal phenotype. Br J Haematol 1991;79:117-119.Galanello R, Monne MI, Paderi L, et al. Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and ...
The alpha-thalassemia point mutation genotype of a detected sample is detected by virtue of specific amplification of five point mutation destination fragments WS, QS, CS, CD30 and CD31 of the human alpha 2 globin gene and molecular hybridization and unwinding analysis of a specific fluorescent ...
Association of alpha hemoglobin–stabilizing protein (AHSP) gene mutation and disease severity among HbE—beta thalassemia patientsThalassemiaGlobin geneTransfusionPhenotypeHbE beta thalassemiaIn this study, we aimed to investigate the pattern and association of genetic mutations occurring within the alpha ...
A single alpha-globin gene deletion is the most frequent mutation in alpha-thalassemia (alpha-thal) worldwide, while the additional a-globin chain is relatively common. The excess alpha-globin gene plays a critical role in pathophysiology of thalassemia, especially when in coinherited with b-...
ricetransmissionThe virus was successfully transmitted from naturally infected plants of this perennial weed to rice and vice versa by Rhopalosiphum padi. The implications of this to rice field infections in N. Italy are discussed.doi:10.1016/j.clinbiochem.2011.08.763Amirian Azam...
Deletional or nondeletional mutations of one or both HBA1 and HBA2 on chromosome 16 will result in reduced production of α-globin chains, a component of haemoglobin (Hb) that is required for the formation of red blood cells (RBCs). This study aimed to determine t...
Molecular characterization including beta-globin gene sequence analysis revealed heterozygosity for a single beta-thalassaemia mutation, IVSI nt1 (G-->A). In addition the patient was found to be homozygous for alpha-globin gene triplication (alpha alpha alpha anti3.7/alpha alpha alpah anti3.7). ...
Alpha and beta globin gene mutation analysis was performed by DNA sequencing. Both brothers had "thalassemia trait-like" red cell indices. HbA2was high (4.9%) in patient 2 and normal (2.7%) in patient 1. HbF was normal (0.3%) in both. The abnormal Hb peaks in patient 1 (21.7%) ...