Cuban programme for prevention of sickle cell disease

Area of Science:

• Medical Genetics
• Public Health
• Hematology

Background:

• Sickle cell gene carrier rates in Cuba vary regionally (3-7%).
• A national sickle cell disease control program was launched in 1983.
• The program integrated education, screening, counseling, and prenatal diagnosis.

Purpose of the Study:

• To evaluate the effectiveness of Cuba's nationwide sickle cell disease control program.
• To report on screening outcomes and the impact of genetic counseling and prenatal diagnosis.

Main Methods:

• Nationwide screening of pregnant women and fathers for abnormal hemoglobin.
• Genetic counseling for at-risk couples.
• Prenatal diagnosis for at-risk pregnancies.
• Pregnancy termination based on prenatal diagnosis results.

Main Results:

• Screened 806,935 pregnant women, identifying 3.7% with abnormal hemoglobin.
• Tested 19,686 fathers, detecting 1268 at-risk couples.
• Performed prenatal diagnosis on 531 pregnancies, confirming 98 affected fetuses (SS or SC).
• Terminated 72 pregnancies with affected fetuses.

Conclusions:

• The Cuban sickle cell disease control program successfully identified at-risk couples and affected fetuses.
• Prenatal diagnosis and subsequent pregnancy termination significantly impacted disease prevalence.
• The program demonstrates a viable model for sickle cell disease management in diverse populations.