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Thalassemia Diagnosis

Beta-thalassemia, better known as Mediterranean Anemia or erythroblastosis, is a disease found mostly in the Mediterranean area.

It is a genetically transmitted hereditary pathology and its main manifestation is the reduction of hemoglobin levels in the blood and a higher production of red blood cells which are markedly smaller, i.e. microcythemia (low MCV in blood count).

Thalassemia may present in two forms: major (i.e. Cooley’s Anemia) a very serious condition that can only be cured with repeated blood transfusions, with which high levels of fetal hemoglobin (fetal Hb), present in the organism since birth, is maintained, as well as of hemoglobin A2 (Hb A2) with the presence of erythroblastosis.  The other form, aka minor, is asymptomatic, and the only elevated levels are of hemoglobin A2, one of the so-called asymptomatic carriers. The minor condition may produce symptoms, depending on the levels of hemoglobin, such as pallor, fatigue and all the typical symptoms of anemia.

In Italy, especially in Sicily, asymptomatic carriers are quite common and it is important to be aware of one’s condition before having children. In fact, if two asymptomatic carriers have children, their probabilities of carrying the disease are: 25% healthy, 25% sick (Cooley’s Anemia) and 50% asymptomatic carrier. Therefore 1 out of 4 children could be born with the major form of Mediterranean Anemia.

The Health Department has now for many years guaranteed free Thalassemia Screenings for all women in fertile age (13-50 yrs.) and for men only if partners of women who are asymptomatic carriers. All you need is a prescription from your doctor with the exemption code D01, the request for “thalassemia screening” and the following codes:

globuli rossi

  • Complete Blood Count  90622
  • HB hemoglobin A2 90663
  • HB fetal hemoglobin 90664
  • HB hemoglobin abnormalities 90665

Among the most valid internationally recognized methods for the diagnosis of thalassemia is HPLC, High-performance liquid chromatography, with which is it possible to measure not only the physiological levels of hemoglobin, but also detect abnormalities of various kinds. The particularity of HPLC is that inside a column under high pressure there will be a migration with consequent chromatographic separation of the various hemoglobin fractionations.

At the Dr. Giovanni Di Piazza Medical Testing Laboratory in Palermo you can get a free HPLC hemoglobin abnormality test (i.e. thalassemia screening) every day with a prescription from your doctor. Results will be available within three days.

Please do not hesitate to contact us for further information.