Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of bet...

background: iran is a country located on the thalassemic belt of the globe. investigating such issues is of a greater significance in southern provinces of the country where the high prevalence of thalassemia has imposed high costs and mental pressure on families and the healthcare system. methods: in this cross-sectional study conducted in 2011 as a census, the data related to patients or dise...

Thalassemia is the most common single gene disorder around the world (1, 2). This disease is a type of chronic, microcytic and inherited anemia associated with defect in hemoglobin synthesis and reduction in life span of red blood cells (3). Thalassemia is distributed in Mediterranean, Middle East, Arabian Peninsula, Turkey, Iran, India, Burma and Southeast Asia (1). There are two types of thal...

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...

The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to c...

Duran Canatan1, Yeşim Aydınok2, Yurdanur Kılınç3, Zeynep Karakaş4, İlgen Şaşmaz3, Hilmi Apak5, Nazan Sarper6 1Mediterranean Blood Diseases Foundation, Hemoglobinopathy Diagnosis Center, Antalya, Turkey 2Ege University, Department of Pediatric Hematology, İzmir, Turkey 3Çukurova University, Department of Pediatric Hematology, Adana, Turkey 4İstanbul University, Çapa Medical Faculty, Department o...

BACKGROUND The diagnostic criterion for beta thalassemia trait (BTT) is elevated Hb-A(2) levels. Iron deficiency anemia (IDA) reduces the synthesis of Hb-A(2), resulting in reduced Hb-A(2) levels, so patients with co-pathological conditions BTT with IDA, may have a normal level of Hb-A(2). Many socio-economic factors like unawareness, poor diagnostic facilities, and cost of molecular diagnosis ...

BMI (Body Mass Index) Body Fat %, Obesity PFT (FEV1, FVC, FEV1/FVC %) Skin fold thickness WHR (Waist-Hip Ratio) BACKGROUND: Thalassemia majoris a hereditary anemia which is caused by defective synthesis of hemoglobin, ineffective erythropoiesis and rapid erythrocyte breakdown.Transfusions in beta thalassemia major are necessary for survival of these patients.Frequent blood transfusions and inad...

To explore the knowledge of parents thalassemic children, their attitude towards prevention birth children and practices followed by them in relation to treatment adherence. : Parents 100 patients Thalassemia, who were coming regularly for blood transfusion Thalassemia day care centre at Rajindra Hospital, Patiala from January 2011 Nov 2012, interviewed regarding about inheritance types prenata...