BACKGROUND Thalassemia is the most common monogenic disease in South-East of Iran. Despite the 70% reduction in Iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in Sistan and Balouchistan Province, Iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases. METHODS Data from this retrospective cross-s...

BACKGROUND Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major atte...

Globin synthesis studies are useful in the analysis of thalassemia syndromes. We have applied globin synthesis and free a-chain pool studies of peripheral blood to characterize hematologic disorders where aor thalassemia was present in combination with HbS or HbC. In 60 nonthalassemic controls, the $/a specific activity ratio was 1.O ± 0.06 (SD). In three patients with HbS-fi#{176}-thalassemia,...

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either α or β thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles ha...

The effect of -158 (C>T) Xmn I polymorphism on expression of G-globin gene has been the subject of considerable interest. This study aims to determine the frequency of the G Xmn I polymorphism in thalassemia patients in Denizli province of Turkey. We studied Xmn I polymorphism in the DNA samples of 27 with -thalassemia major, 210 -thalassemia minor patients and 100 healthy subjects as the ...

Thalassemia is a congenital hemolytic disorder caused by a partial or complete deficiency of alpha- or beta-globin chain synthesis. Homozygous carriers of beta-globin gene defects suffer from severe anemia and other serious complications from early childhood. The disease is treated by chronic blood transfusion. However, this can cause severe iron overload resulting in progressive organ failure....

β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset β-thalassemia major that evolved from β-thalassemia minor in which only one of her parents had the diseased HBB gene. To study the cause of β-thalassemia majo...

Upon erythroid cell maturation in vivo, beta-thalassemic erythroid cells accumulate unmatched unstable alpha-globin chains that are believed to be a causal factor in such cell destruction. This study showed that beta-thalassemia/Hb E erythroid precursor cells from peripheral blood had accelerated maturation, and could mature to the terminal erythroid stage. During the early period of cell cultu...

Background: β-thalassemia minor is characterized by reduced β-haemoglobin chain synthesis and sometimes mild anaemia, although carriers of β-thalassemia minorare usually clinically asymptomatic.Nonspecific abdominal complaints may be caused by gastrointestinal carbohydrate malabsorption (lactose and fructose) and/or malabsorption of biogenic amines (histamine), or proteins (gluten). Objectives:...

Thalassemia and other structural haemoglobinopathies are the major erythrocyte formation disorder prevalent in certain parts of the world including Bangladesh. We investigated 600 cases of anaemic patients referred from various parts of the country for diagnosis and counselling during 3 months (April to June 2011) of time. The most common form of haemoglobin (Hb) formation disorder observed in ...