OBJECTIVE Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic ...

INDIAN PEDIATRICS 1072 VOLUME 41OCTOBER 17, 2004 In developing countries including Pakistan, due to lack of resources for universal and effective screening of blood donors for antibodies to hepatitis C virus (anti-HCV), blood transfusion is still a major source of HCV transmission. Therefore, in addition to other potential recipients of blood transfusion, the thalassemic patients on a long-term...

Preclinical and clinical studies demonstrate the feasibility of treating β-thalassemia and Sickle Cell Disease (SCD) by lentiviral-mediated transfer of the human β-globin gene. However, previous studies have not addressed whether the ability of lentiviral vectors to increase hemoglobin synthesis might vary in different patients.We generated lentiviral vectors carrying the human β-globin gene wi...

Thalassaemia consists one of the most common chronic and genetic hematological disorder, globally. Moreover, is a serious life-limiting and potentially life-threatening disease that causes substantial disruption in all dimensions of life. As more effective management and even cure of thalassemia become possible, attention is drawn to the evaluation of depression that frequently ollows suffering...

Background: Thalassemic syndroms are the most common genetic disease in the world that related to blood transfusion and iron overload in the body. Cardiac complications are the leading cause of death in patients with thalassemia. Cardiovascular complications in patients largely decreases with iron chelators medications. In this study effect, complications and acceptance of iron chelator therapy...

Objective: The objective was to study the serological prevalence of post-transfusion transmitted infections such as hepatitis C virus (HCV), hepatitis B virus (HBV), and HIV among multi-transfused thalassemic individuals of the Eastern India and the socio and financial difficulties faced by them. Methods: The study was carried out from January 2012 until December 2014 involving 1711 thalassemic...

Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-thalassemic mutation and is an important cause of HbH-like disease in Southeast Asia. HbCS variants have an almost normal mean cell volume (MCV) and the anemia is more severe when compared with other alpha-thalassemic variants. We explored the pathobiology of HbCS red blood cells (RBCs) because the underlying cause(s) of t...

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.

beta- thalassemia major is a common hemoglobinopathy in humans. In some journals, numerous studies have reported different prevalence of hepatitis C among beta- thalassemia major because thalassemic patients need multiple blood transfusions and blood transfusion is a common transmission pathway for hepatitis C virus. Thus this study was performed for detection of anti-HCV between beta- thalasse...

Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-re...