Premarital screening: Protecting future generations from thalassemia and anemia

Specialists in genetic and hematological diseases have emphasized that premarital screening is the cornerstone and most important preventative measure to reduce the transmission of chronic diseases to children. The real danger lies in the union of two individuals carrying the affected genes, which threatens the health of future generations. These statements coincided with World Thalassemia Day on May 8, when the world highlights the importance of raising awareness about this genetic disease and the recent medical advancements that have reduced the need for continuous blood transfusions through bone marrow transplantation and gene therapies.

History of genetic diseases and the development of premarital screening

Historically, genetic diseases such as thalassemia and sickle cell anemia have posed a significant health challenge in many parts of the world, particularly in the Mediterranean and Middle Eastern regions. In Saudi Arabia, health authorities recognized the magnitude of this challenge early on, leading to the launch of the Healthy Marriage Program and the implementation of mandatory premarital screening in 2004 (1425 AH). This landmark decision marked a turning point in preventative healthcare, significantly contributing to a reduction in the incidence of new cases of the genetic diseases covered by the screening program. Understanding the historical origins of these genes is crucial today in developing more effective medical strategies to manage and mitigate their spread in modern societies.

Genetic compatibility and informed marriage decisions

Dr. Wad Samir Majdali, a consultant in genetic diseases and head of the Genetic Diseases Department at the Faculty of Medicine, University of Jeddah, explained that early premarital medical screening directly contributes to identifying carriers of the disease. This helps determine the risks resulting from genetic compatibility that could lead to the birth of affected children, especially in cases of consanguinity or a family history of the condition. Dr. Majdali clarified that the risk lies primarily in cases where both partners carry the thalassemia or sickle cell anemia genes, as the probability of their children being affected reaches 25% in each pregnancy.

Dr. Wad Samir Magdali

She also warned of the “double infection” scenario, where both partners carry thalassemia and sickle cell anemia simultaneously, thus compounding the health challenges their children may face. She commended the pivotal role of the Kingdom’s Healthy Marriage Program, which provides couples with access to awareness sessions and specialized consultations to explain disease transmission mechanisms and risk levels based on laboratory results before marriage, empowering them to make informed decisions that ensure the establishment of healthy families.

The overall impact of reducing genetic diseases locally and internationally

The impact of adhering to prevention programs extends beyond individual health to encompass broad social and economic dimensions. Locally and regionally, declining rates of genetic diseases alleviate the financial and operational burden on healthcare systems and reduce occupancy rates in hospitals and blood banks. Internationally, the success of countries implementing rigorous prevention programs provides a model for managing health resources and reducing morbidity and mortality rates among children, thus contributing to the achievement of the global Sustainable Development Goals related to health and well-being.

Blood transfusion challenges and full recovery options

For her part, Dr. Hanan Hamad Al-Duailij, a hematology consultant at King Fahd University Hospital at Imam Abdulrahman bin Faisal University, explained that thalassemia is a genetic disorder that affects the production of hemoglobin, the component responsible for transporting oxygen. This leads to varying degrees of anemia, sometimes requiring regular blood transfusions for life. She further explained that repeated blood transfusions can, over time, lead to iron overload in the body, affecting the heart, liver, and endocrine glands if not carefully managed with iron chelation therapy and regular medical follow-up.

Dr. Hanan Al-Duailij

Al-Duailij revealed that bone marrow transplantation has become a treatment option that can achieve a complete cure for some patients, especially with early diagnosis and the availability of a suitable donor. She also highlighted advancements in gene therapy, which have changed families' perceptions of the disease. She pointed out that patients rely heavily on a regular supply of blood units to continue their studies, work, and daily lives. Therefore, voluntary blood donation represents genuine and sustainable support. She emphasized that prevention begins with awareness, and that early screening and informed community support can make a real difference in the lives of patients and their families.

Advanced treatments and comprehensive care

In the same context, Dr. Nahed Qushmaq, a consultant in internal medicine, hematology, and coagulation, confirmed that thalassemia is a hereditary blood disorder resulting from a genetic defect in hemoglobin production. This leads to chronic anemia that may necessitate lifelong, regular blood transfusions to maintain the patient's health and normal growth. She explained that the iron overload resulting from blood transfusions requires iron chelation therapy and continuous monitoring to protect vital organs such as the heart and liver.

Qushmaq explained that recent years have witnessed promising developments, most notably gene therapy and bone marrow transplantation, which have opened new horizons for reducing the need for blood transfusions and achieving cures for some patients. She noted that the Kingdom continues to support advanced treatments and enhance healthcare services and blood banks, while voluntary blood donation and community awareness remain two essential pillars for supporting patients. She concluded by stating that while thalassemia may be a hereditary disease, awareness and commitment to premarital screening are crucial for creating a healthier future for coming generations and improving the quality of life for those affected.