Background: β-thalassemia is the most common hereditary disease in Iran, and more than 2 million carriers of β-thalassemia live in Iran. On the other hand, our country is located in the thalassemia belt, and no comprehensive study has been conducted regarding the effect of erythropoietin on blood parameters in thalassemia intermedia patients in our region. Therefore this study aimed to investig...

Gene therapy for beta-thalassemia requires stable transfer of a beta-globin gene into hematopoietic stem cells (HSCs) and high and regulated hemoglobin expression in the erythroblastic progeny. We developed an erythroid-specific lentiviral vector driving the expression of the human beta-globin gene from a minimal promoter/enhancer element containing two hypersensitive sites from the beta-globin...

Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozy...

B eta-thalassemias are heterogeneous autosomal recessive hereditary anemias characterized by reduced or absent b globin chain synthesis. The resulting relative excess of unbound a globin chains precipitate in erythroid precursors in the bone marrow, leading to their premature death and, hence, to ineffective erythropoiesis. b-thalassemia phenotypes are variable, ranging from the severe transfus...

OBJECTIVES Chelating agents remain the mainstay in reducing the iron burden and extending patient survival in homozygous beta-thalassemia but adverse and toxic effects may increase with the institution and long term use of this essential therapy. This study aimed to estimate the incidence of deferasirox (DFX) side effects in patients with thalassemia major or intermedia. METHODS A retrospecti...

Hemoglobin E heterozygotes (Hb AE) are asymptomatic and homozygotes (Hb EE) have a mild microcytic anemia . However, we had a 2 year old female child presenting with moderate pallor necessitating blood transfusions at 6 months to 1 year interval starting from eight months of age. Thorough clinical examination and investigative work-up revealed Hb E trait with Gaucher’s disease. To the best of o...

High counts of circulating microparticles, originated from the membrane of abnormal erythrocytes, have been associated with increased thrombotic risk in hemolytic disorders. Our studies indicate that in thalassemia intermedia patients the number of circulating microparticles correlates with the capability of the thalassemic erythrocytes to release microparticles. The microparticles are characte...

In this study we have carried out aand -globin gene analysis and defined the fl-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the j9-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We ...

Extramedullary hematopoiesis (EMH), as a compensatory phenomenon, refers to the blood cell formation outside of bone marrow that occurs once cells in circulatory system fail meet individuals’ needs. EMH is rare moderate severe beta thalassemia because most symptomatic patients are effectively managed with transfusion. However, receive transfusions like β-thalassemia intermedia (β-TI) indicated ...

BACKGROUND Patients with thalassemia major and intermedia are susceptible to osteopenia and osteoporosis. The mechanism of osteoporosis in these patients is multifactorial. Transfusion related iron overload in endocrine organs leads to impaired growth hormone secretion, diabetes mellitus, hypothyroidism, hypoparathyroidism, lack of sex steroids and vitamin D deficiency that contribute to impair...