A total of 124 chromosomes of 64 unrelated Indian βthalassemia and β-thalassemia patients along with their family members were studied for their haplotype pattern and mutations. These included, 35 with βthalassemia major, 4 with thalassemia trait, and 25 with β-thalassemia. Fourteen mutations were detected by PCR and Sequencing. The most common mutation IVS1-5 (G-C) was linked with 8 different ...

Thalassemia associates anemia and iron overload, two opposite stimuli regulating hepcidin gene expression. We characterized hepatic hepcidin expression in 10 thalassemia major and 13 thalassemia intermedia patients. Hepcidin mRNA levels were decreased in the thalassemia intermedia group which presented both lower hemoglobin and higher plasma soluble transferrin receptor levels. There was no rel...

Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic le...

β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219...

Background Osteoporosis-osteopenia syndrome (OOS) is found in more than 50% of thalassemia patients worldwide [1,2]. Despite appropriate management, thalassemics continue to exhibit a decrease in bone mass due to the multifactorial pathogenesis of OOS in thalassemia [3]. Therefore, this study aims to obtain an insight on the thalassemia patients' perception of OOS and possible lifestyle contrib...

Left ventricular (LV) failure is the main cause of death in thalassemia. Iron overload in patients with thalassemia leads to the formation of oxygen free radicals. Of the various apolipoprotein E (apoE) alleles, apoE4 is the least efficient in conditions of oxidative stress in comparison with apoE2 and apoE3. Our results showed that apoE4 is a genetic risk factor for LV dysfunction in thalassemia.

BACKGROUND Infection is one of the most common causes of death in β-thalassemia patients. This may be due in part to an underlying immunological abnormality. During the past decade, a subset of CD3+ T cells that express both CD4+CD8+ (DP) T-cells were discovered and have been described in several pathological conditions. However, phenotypic characterization of this unique T-lymphocyte subset in...

OBJECTIVE Anti-apoptotic proteins such as Bcl-2 and Bcl-xL may play a role in the survival of erythroid progenitor cells. Information about these proteins in patients with β-thalassemia minor is limited. We aimed to determine the levels of serum Bcl-2 in patients with β-thalassemia minor. MATERIALS AND METHODS Ninety-seven patients (60 females and 37 males with mean age of 29±21 years) with β...

Background The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax. Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax ...

Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...