BACKGROUND β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manif...

INTRODUCTION Thalassemia and iron deficiency may both result in hypochromic microcytic anemia. Hematological algorithms that differentiate the two are mainly established in adult selected diagnostic groups. We aimed at creating an algorithm applicable in the presence of children, hemoglobin variants, and iron deficiency. METHODS Our study material constituted blood samples referred during 1 y...

The FoxO3 transcription factor is a key regulator of oxidative stress and erythroid maturation during erythropoiesis. In this study, we explored the involvement of FoxO3 in severe β-thalassemia. Using primary CD34+ hematopoietic progenitor cells from patients with β-thalassemia major, we successfully developed an in vitro model of ineffective erythropoiesis. Based on this model, FoxO3 activity ...

Mục tiêu nghiên cứu: Mô tả đặc điểm huyết học và tỷ lệ lưu hành gen bệnh tan máu bẩm sinh (thalassemia) ở trẻ em 3-15 tuổi tại huyện Hà Quảng, tỉnh Cao Bằng. Phương pháp cắt ngang có phân tích trên đối tượng là 223 từ 3 -15 Bằng tháng 9/2021 đến 1/2023. Kết quả Tỷ thiếu chung 18,9%; mức độ nặng 0,9%, vừa 5,8%, nhẹ 12,1%; hồng cầu nhỏ nhược sắc 25,6%; sắt đơn thuần 1,8%; 0,4%, bất thường tố 7,2%...

Human β-thalassemia major is one of the most prevalent genetic diseases characterized by decrease/absence of β-globin chain production with reduction of erythrocyte number. The main cause of death of treated β-thalassemia major patients with chronic blood transfusion is early cardiac complications that have been attributed to secondary iron overload despite optimal chelation. Herein, we investi...

Objective: The main objectives of this study were to investigate the prevalence of hepatitis C virus (HCV) among patients with β-thalassemia major and to determine the most prevalent genotype for this virus. Materials and Methods: One hundred twenty-two β-thalassemia major patients who were previously diagnosed at the molecular level were included. All plasma samples were tested for the presenc...

β-thalassemia is a disease characterized by anemia and is associated with ineffective erythropoiesis and iron dysregulation resulting in iron overload. The peptide hormone hepcidin regulates iron metabolism, and insufficient hepcidin synthesis is responsible for iron overload in minimally transfused patients with this disease. Understanding the crosstalk between erythropoiesis and iron metaboli...

UNLABELLED This work was carried out to investigate the role of Glutathione S-Transferase M1 (GSTM1) null genotype frequency in prognosis of β-thalassemia, and to detect the correlation between GSTM1 null genotype and appearance of cardiac complications in β-thalassemia. MATERIALS AND METHODS The studied groups in the present work were divided to three groups (group I: 20 healthy subjects, gr...

BACKGROUND: β-thalassemias (beta-thalassemia) is the most common genetic disorder; it is an inherited globinopathy which is transmitted to people due to a mutation in genes that create globin chain. In Iran, the disease gene is more common in the northern and southern regions. It is estimated that more than 60 mutations of the disease exist in different geographical areas of Iran. Iran has begu...