The recent article by Conley et al.1 on the lwneditary persistence of fetal hemoglobin presents some interesting data which relate to the etiology of thalassemia. Ingram and Stretton2 postulate that beta-tlmlassemia is due to a mutation within or close to the l)eta gene resulting in decreased beta chain production and a compensatory increase in delta chain ( hemoglobin A., ) and gamma chain (he...

The betaIVS-2-654 C-->T mutation accounts for approximately 20% of beta thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to beta0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the "plug and socket" method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult beta glob...

chorionic villus sampling (cvs) is a new method and its true risk of fetal loss and complications is not still clearly determined. the objective of this study was to review the clinical pregnancy outcome of transabdominal cvs (ta-cvs) performed on women with minor beta thalassemia. ta-cvs performed on 300 women with a singleton pregnancy and we could follow 213 women until delivery. data regard...

conclusion following splenectomy, thrombocytosis can predispose the patients to an increase in cerebral blood velocities more than respected with anemia. but by transcranial doppler ultrasonography no evidence of significant stenosis were found in intracerebral arteries to conclude that the beta-thalassemia major patients were more prone to the development of stroke secondary to this abnormalit...

introduction: cardiac dysfunctions have been well known in patients with major thalassemia. some studies have focused on differences in blood pressure and heart rate between these patients and normal population, while this view has not been proven in other studies. given the importance of hemodynamic factors in the health of these individuals, we intend to test the hypothesis as to whether or n...

abstract background prolonged p-wave duration and p-wave dispersion indicate interatrial conduction disturbance and early predict arrhythmia especially atrial fibrillation. iron deposition in the atrial tissue might prolonged the atrial conduction time, and this study evaluated the p-wave prolongation and increased p-wave dispersion in these patients. materials and methods fifty patients with m...

A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.

A hybridization assay procedure was devised that makes possible quantitation of the ratio of mRNA of alpha to mRNA of beta globin chains in an RNA sample. The assay uses the radioactive synthetic DNA copies obtained by incubation of RNA-dependent DNA polymerase of avian myeloblastosis virus with rabbit globin mRNA that is 80-90% enriched in mRNA specific for synthesis of alpha or beta globin ch...

BACKGROUND Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with beta-thalassemia from northern Pakist...

Beta thalassemia is a common hereditary hemalogogical disease in Thailand, with a prevalence of 5-8%. In this study, we evaluated the high resolution DNA melting (HRM) assay to identify beta thalassemia mutation in samples from 143 carriers of the beta thalassemia traits in at risk couples. The DNA was isolated from venous blood samples and tested for mutation under a series of 5 PCR-HRM (A, B,...