Prevention of thalassemia

Area of Science:

• Medical Genetics
• Public Health
• Obstetrics

Background:

• Thalassemia and hemoglobinopathies pose significant medical, social, and economic burdens in high-frequency regions.
• Effective prevention strategies are crucial for mitigating these impacts.
• Greece has implemented a comprehensive national prevention program.

Purpose of the Study:

• To evaluate the effectiveness of Greece's prevention program for thalassemia and hemoglobinopathies.
• To highlight the role of public education, carrier screening, genetic counseling, and prenatal diagnosis.
• To document the experience and outcomes of prenatal diagnosis in Greece.

Main Methods:

• Public education campaigns and widespread availability of carrier identification tests.
• Genetic counseling for at-risk couples.
• Prenatal diagnosis using hemoglobin biosynthesis analysis of placental blood via fetoscopy.
• Increasing use of prospective counseling for couples before conception.

Main Results:

• A substantial decrease in the number of babies born with thalassemia major requiring transfusions.
• Growing public acceptance and utilization of screening and prenatal diagnosis services.
• Prenatal diagnosis via fetoscopy demonstrated high accuracy with low complication rates (<1% in the last year).

Conclusions:

• The comprehensive prevention program in Greece has successfully reduced the incidence of thalassemia major.
• Prenatal diagnosis is a critical component of successful prevention strategies.
• Future advancements include DNA-based prenatal diagnosis for earlier and safer detection.