The thalassemia syndromes are a heterogeneous group of inherited anemias characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. The thalassemias are inherited as pathologic alleles of one or more of the globin genes.
Clinical manifestations are diverse, ranging from asymptotic hypochromia and microcytosis to profound anemia, which is fatal in utero or in early childhood if untreated. When bone marrow transplantation is performed early in life there is a great probability of cure.
The thalassemias are most common in the Mediterranean basin and equatorial or near-equatorial regions of Asia and Africa. FR Yugoslavia belongs to "thalassemia belt" where frequencies of pathologic genes are within the range of 2.5-15%.
Molecular diagnostic of thalassemia is the most reliable method for:
- accurate diagnosis early in life. Modern therapy initiated in early stage prolongs survival of these patients.
- prenatal diagnosis, which decreases the incidence of thalassemia patient births.
In Laboratory for molecular hematology the modern methods are used for diagnostic of thalassemia, including hemoglobin analysis (electrophoresis of Hb) and globin genes analysis ( reverse dot-blot, PCR).
CONTACT: Dr Sonja Pavloviæ
TEL: ++ 381 11 3976 445
FAX: ++ 381 11 3975 808
e-mail: sonya@sezampro.rs |