Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with b-thalassemia intermedia has substantially increased over the past decade. Earlier studies observed that patients with b-thalassemia intermedia experience a clinical-complications profile that is different from that in patients with b-thalassemia major. In this article, a variety...

Background—In b-thalassemia major, heart failure primarily affecting left ventricular systolic function is the most common complication and cause of death. Apart from iron deposition, it has been recently reported that myocarditis might be another contributing factor in the pathogenesis of acute or chronic heart failure, acting possibly through an autoimmune mechanism. In an attempt to assess t...

Platelet and factor VIII (F-VIII) storage and phagocytic functions of the spleen were studied in 15 patients with β-thalassemia major who were not splenectomized and in 7 patients with Hb-S-b-thalassemia. Eight splenectomized patients, 4 patients with b-thalassemia major, and 11 healthy children served as controls. F-VIII elevation following adrenalin was not found to be a sensitive index in th...

introduction: patients referred to as having thalassemia major are usually those who come to medical attention in the first year of life and subsequently require regular transfusions to survive. those who present later or who seldom need transfusions are said to have thalassemia intermediahydroxyurea, an s-phase-specific and non-dna-hypomethylating chemotherapeutic agents is capable of inducing...

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

Background: b-Thalassemia is a common autosomal recessive disorder in human caused by a defect in b-globin chain synthesis. The most common mutations causing b-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of norma...

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

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...

Thalassemia is one of the most common genetic disorders in Egypt. With the total population of 70 million, there are approximately 600,000 affected individuals and more than 20 million thalassemia carriers. Thalassemia is therefore one of the major health problems in Egypt. B-Thalassemias are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in th...

Hemoglobin Barts hydrops fetalis (homozygous a-thalassemia) results from deletion of all 4 a-globin genes. It was previously considered a universally fatal condition; however,with recent advances in prenatal care and the availability of intrauterine blood transfusions, an increasing number of patients are now surviving into adulthood. Similar to patients with transfusion-dependent thalassemia d...