Thalassemia syndromes are very heterogeneous group of inherited disorders and are one of the most common hereditary disorders worldwide. They are characterized by a defect in the synthesis of one or more hemoglobin’s polypeptide chain subunits and are the result of variants within α- and β-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. Molecular diagnostics of thalassemia is the most reliable method for accurate diagnosis early in life, as well as prenatal diagnosis, which decreases the incidence of thalassemia patient births.
Material necessary for detection of mutations within globin genes is obtained by DNA isolation from peripheral blood. Mutations causing thalassemia syndromes are detected using PCR analysis or by DNA sequencing.
It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant in vol/vol ratio 1:9. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.
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- dr Milena Ugrin
- dr Branka Zukić
- dr Sonja Pavlović
Tel: +381 11 3976 445
Mob: +381 65 3976 445
Fax: +381 11 3975 808