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High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, h...

Objectives Hemoglobin (Hb) variants remain an important cause of erroneous HbA1c results. We present an approach to overcome the interference of Hb variants on HbA1c measurements using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Methods Samples containing or not containing Hb variants were analyzed for HbA1c using an MALDI-TOF MS system (QuanTOF) and a boronate affinity comparative method (Ultra2). For QuanTOF, two sets of HbA1c values were obtained through α- and β-chain glycation. Results A robust correlation between the glycation degrees of the α- and β-chains was found, and HbA1c values derived from α- and β-chain glycation correlated well with the Ultra2 results. Statistically significant differences (p1c, clinically significant differences were only found among samples containing β-chain variants detected by QuanTOF (i.e., Hb J-Bangkok, Hb G-Coushatta, and Hb G-Taipei). In contrast, based on α-chain glycation, no clinically significant differences were found for these three variants. Conclusions In addition to conventional β-chain glycation, α-chain glycation can be used to calculate HbA1c values. The interference of Hb variants on HbA1c quantification can be overcome by employing the glycation of the globin chain without a genetic variant to estimate HbA1c values.

β-Thalassemia (β-thal) is caused by deficiency of β-globin chain synthesis and leads to the accumulation of unstable globin chain production. This results in a higher Hb F level in order to neutralize the excess α chains. In addition, γ-globin gene expression, due to genetic factors after birth, leads to increased Hb F levels in adulthood [hereditary persistence of fetal hemoglobin (Hb) (HPFH)]. In this study, the relationship between β-thal trait and individuals with suspected HPFH and a control group was investigated in Adıyaman, Turkey. Single nucleotide polymorphism (SNP) analyses were performed in five different polymorphic regions using real-time polymerase chain reaction (qPCR) methods [rs4671393 (GA), rs766432 (AC), rs9402686 (GA), rs28384513 (TG), rs1609812 (AG)]. No significant difference was found between the control and β-thal group in the codominant inheritance model in the rs1609812 (AG) polymorphism region only, while all the other polymorphic regions were found to be statistically significant. It was found that different genotype models increased Hb F levels between 1.6- and 3.06-fold in four studied polymorphic regions [rs4671393 (GA), rs766432 (AC), rs9402686 (GA), rs28384513 (TG)]. All of the polymorphic regions increased the Hb F levels from 1.86- to 24.76-fold, except rs9402686 (GA) and rs28384513 (TG) over dominant and rs1609812 (AG) codominant inheritance models. The AC and AA genotypes increased Hb F levels in the B-cell CLL/lymphoma 11 A haplotype studies. It was determined that both haplotypes 2 and 4 increased Hb F levels. As a result, SNPs strongly affect the Hb F levels in both healthy individuals and β-thal trait.

Background: Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the distribution of hemoglobinopathies (sickle cell and thalassemia) cases in Nepal using laboratory based data.Methods: A retrospective study was carried out at five different sites of Nepal Government that uses capillary electrophoresis for screening of hemoglobin disorders from January 2019 to March 2019. All the cases diagnosed positive for hemoglobinopathy till December 2018 were collected from laboratory record at each sites, and analyzed using Statistical Package for Social Sciences (SPSS version 20.0).Results: Out of total 4018 patients tested during the period in all five different sites, 1470 were diagnosed positive for hemoglobinopathy. Sickling disorder was the most predominant hemoglobinopathy followed by ?-thalassemia. Province 5, province 6 and province 7 were mostly affected by sickling disorder while the other provinces by ?-thalassemia.Conclusions: Sickle cell is the commonest cause of hemoglobinopathy followed by B thallesmias in Nepalese population. Sickle cell is more concentrated towards western part of Nepal and especially in Tharu ethnic population. In contrast, the distribution of ?-thalassemia is found throughout the country and among all ethnic groups of population.Keywords: Hemoglobinopathy; Nepal; sickle cell; thalassemia

Thalassemia is the most common congenital hemolytic disorder by a partial or complete deficiency in globin chain synthesis. Recent investigations have suggested a correlation between protein Z (PZ) and protein Z-dependent protease inhibitor (ZPI) deficiency and thrombosis. So, the aim of this study was to evaluate the PZ and ZPI levels in beta (β)-thalassemia patients. In this study, 40 patients with thalassemia major and 40 control subjects were selected. PZ and ZPI serum levels were measured by sandwich ELISA technique. PZ and ZPI were significantly higher in thalassemic patient group than control group. Also, PZ levels and PLT and Hb counts were significantly higher in splenectomized thalassemic patients than non-splenectomized ones. The exact mechanism of increased PZ and ZPI have an impact on hypercoagulable state in β-thalassemia major could not be found in our study. More studies are still needed to understand these challenges in β-thalassemia major patients.

Beta thalassemias are a significant global health problem. Globin chain imbalance leads to a complex physiologic cascade of hemolytic anemia, ineffective erythropoiesis, and iron overload. Management of the broad spectrum of phenotypes requires the careful use of red blood transfusions, supportive care, monitoring, and management of iron overload. In this article, the authors discuss recommendations for monitoring of individuals with thalassemia, as well as ongoing preclinical and clinical trials of therapies targeting different aspects of thalassemia pathophysiology.

Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1-5% of the global population are carriers for a genetic thalassemia mutation. The thalassemias are characterized by autosomal recessive inherited defects in the production of hemoglobin. They are highly prevalent in the Mediterranean, Middle East, Indian subcontinent, and East and Southeast Asia. Due to recent migrations, however, the thalassemias are now becoming more common in Europe and North America, making this disease a global health concern. Currently available conventional therapies in thalassemia have many challenges and limitations. A better understanding of the pathophysiology of β-thalassemia in addition to key developments in optimizing transfusion programs and iron-chelation therapy has led to an increase in the life span of thalassemia patients and paved the way for new therapeutic strategies. These can be classified into three categories based on their efforts to address different features of the underlying pathophysiology of β-thalassemia: correction of the globin chain imbalance, addressing ineffective erythropoiesis, and improving iron overload. In this review, we provide an overview of the novel therapeutic approaches that are currently in development for β-thalassemia.

Background Thalassemias are monogenetic hematologic disorders which are caused by faulty synthesis of one or more of the Hb chains which leads to imbalance in globin chains resulting in hemolysis and impaired erythropoiesis and chronic inflammatory condition. Visfatin is a pro-inflammatory adipocytokine which is mostly expressed in visceral adipose tissue and its testing may help in assessment of severity of the disease. Aim of the work This study aims at measuring serum visfatin level in Beta thalassemia patients and its possible correlation to disease severity (major andintermedia). Patients and methods Forty-one patients diagnosed as β-thalassemia (major, intermedia) and twenty age and sex-matched healthy individuals as the control group were tested for serum visfatin levels by enzyme-linked immunosorbent assay. Results Serum visfatin was higher in theß-thalassemia major(ß-TM) group than in the control group (P Conclusion There is an association between serum visfatin and the degree of severity of β thalassemia disease. Recommendations Testing of the relationship between serum visfatin level and other vascular inflammatory markers in β-thalassemia disease (asadiponectin, resistin, intracellular adhesion molecule (ICAM)) to clarify the exact mechanism of the inflammatory process in the disease and its complications to alter the course of the disease.Also to study serum visfatin in complicated β-thalassemia patients to establish its possible role in cardiac, vascular, endocrine or any other complications and comparing it with non-complicated patients.

Thalassaemia is one of the commonly inherited monogenetic disorders with more than 70,000 babies born per year worldwide. Defective globin chain synthesis causes ineffective erythropoiesis. Homozyg...