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Thalassemias

Thalassemia: genetic diagnosis and prevention of inherited hemoglobinopathies

Thalassemia comprises a group of inherited genetic diseases characterized by reduced or absent production of the globin chains that make up hemoglobin, the protein responsible for transporting oxygen in the blood. This alteration can impair the production of red blood cells and cause anemia of varying severity. The main forms are β-thalassemia (beta-thalassemia) and α-thalassemia (alpha-thalassemia), associated with alterations in the genes that regulate the synthesis of the respective globin chains. Thalassemia is particularly common in populations of the Mediterranean area, the Middle East, Africa and Southeast Asia, but it is present worldwide.

Explore solutions for the genetic diagnosis of thalassemia

Browse the products available for the analysis of alterations associated with alpha-thalassemia and beta-thalassemia and find the solutions best suited to your laboratory’s needs.

Thalassemia: clinical manifestations and hereditary transmission

Thalassemia presents a broad spectrum of clinical manifestations, which depend on the type and number of genetic alterations present. Some people may be carriers and show no significant symptoms; others may develop severe forms that require ongoing treatment. The forms of thalassemia follow patterns of hereditary transmission that vary according to the genes involved. Assessing the genetic profile of both parents is important to define the couple’s reproductive risk and to provide accurate information in the context of genetic counseling.

Molecular analysis of thalassemia is an important tool to:

  • confirm the diagnosis in patients with clinical suspicion;
  • identify carriers;
  • support genetic counseling;
  • assess reproductive risk in couples;
  • support prenatal diagnosis in indicated cases;
  • characterize the variants responsible for the disease.

The identification of genetic alterations improves the diagnostic assessment and provides useful information for clinical and family management. Genetic analysis is integrated with hematological tests and the other investigations included in the diagnostic pathway.

Carrier screening and molecular diagnostics of thalassemia

Carrier screening plays a particularly important role in populations in which thalassemia is more common. Many carriers are asymptomatic or have mild manifestations and may not be aware of their condition.

Identifying carrier status allows couples to know their reproductive risk and to evaluate, with the support of specialists, the options available for family planning and the management of a pregnancy.

Molecular diagnostic technologies make it possible to search for the genetic alterations associated with the different forms of thalassemia. Depending on the method and the variants investigated by the individual test, genetic analysis can help to:

  • identify point mutations, deletions and other DNA alterations;
  • distinguish between different forms of thalassemia;
  • complement the information obtained from traditional hematological tests;
  • support differential diagnosis with other inherited anemias;
  • characterize carrier status and support genetic counseling;
  • contribute to more precise clinical and family management.

Nuclear Laser Medicine offers solutions for the identification of alterations in the alpha-globin and beta-globin genes. The choice of test and the interpretation of the result depend on the diagnostic question and the variants analyzed. Integrating molecular results into screening, diagnosis and genetic counseling pathways promotes a more complete assessment of the patient and their family.

Solutions for the genetic diagnosis of thalassemia

Explore the Nuclear Laser Medicine products dedicated to the analysis of genetic alterations associated with thalassemia. For information on the available tests and on the solutions best suited to your laboratory’s needs, contact us.
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