Thalassemia is a congenital hemolytic anemia prevalent in Asian and Mediterranean races. The homozygous state results in thalassemia major or Cooley's anemia, and such patients are transfusion-dependent. A less severe syndrome, thalassemia intermedia, may be due to compound heterozygosity for /3-thalassemia and /3 variant (e.g., hemoglobin E [HbE]) genes and is characterized by anemia, jaundice...

A women with beta-thalassemia intermedia, and iron overload following many years' treatment with oral iron, was treated with subcutaneous desferrioxamine. During the course of this treatment she developed tinnitus, which was considered to be a rare complication of the use of this chelating agent. The mechanism of this effect is not understood.

Thalassemia intermedia (TI), also known as nontransfusion dependent thalassemia (NTDT), is a type of thalassemia where affected patients do not require lifelong regular transfusions for survival but may require occasional or even frequent transfusions in certain clinical settings and for defined periods of time. NTDT encompasses three distinct clinical forms: β-thalassemia intermedia (β-TI), Hb...

conclusions there was insignificant correlation between serum hepcidin and ferritin levels in the two groups of patients with tm and ti. it seems that regulation of hepcidin in patients with thalassemia is more affected by erythropoeitic activity than iron stores. also, hepcidin levels were significantly higher in patients with tm than ti, possibly due to higher erythropoeitic activity in ti. i...

Splicing mutations are common causes of beta-thalassemia. Some splicing mutations permit normal splicing as well as aberrant splicing, which can give a reduced level of normal beta-globin synthesis causing mild disease (thalassemia intermedia). For other mutations, normal splicing is reduced to low levels, and patients are transfusion-dependent when homozygous for the disease. The development o...

The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.

Although the life expectancy of thalassemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease. The presence of a high incidence of thromboembolic events, mainly in thalassemia intermedia, has led to the identification of a hypercoagulable state in these patients. In this review, the molecular and cellular mechanism...

BACKGROUND There are various clinical symptoms of thalassemia intermedia, and they lie roughly between those of major and minor forms of the disease. Patients with thalassemia intermedia occasionally require blood transfusions. This renders them susceptible to pulmonary arterial hypertension (PAH) syndrome, which is one of the most significant complications in patients with thalassemia intermed...