Mediterranean Anemia Preconception Screening: A Comprehensive Guide to Genetic Testing and Prevention

Understanding Thalassemia and Its Genetic Risks

Thalassemia, a hereditary blood disorder, affects hemoglobin production and can lead to severe anemia if inherited from both parents. For couples planning to conceive, especially those with ancestry from high-prevalence regions such as Guangdong and Guangxi provinces in China, preconception screening is essential to assess the risk of passing on this condition.

Initial Blood Tests: The First Step in Detection

The screening process typically begins with routine blood tests for both partners. A complete blood count (CBC) helps identify any abnormalities in red blood cells, such as low hemoglobin levels or microcytosis—common indicators of thalassemia carriers. If both partners show normal CBC results, the likelihood of having a child affected by thalassemia is significantly reduced, though not entirely ruled out in rare cases.

Hemoglobin Electrophoresis: Identifying Carrier Status

If initial blood work raises suspicion, the next step is hemoglobin electrophoresis. This test analyzes the types and amounts of hemoglobin present in the blood. Elevated levels of fetal hemoglobin (HbF), particularly when exceeding 5%, may indicate beta-thalassemia trait or disease. Individuals with abnormal electrophoresis patterns are considered potential carriers and require further evaluation.

Confirming Diagnosis Through Genetic Testing

Genetic testing is the definitive method for confirming thalassemia and identifying the specific mutation involved. It allows healthcare providers to determine whether an individual has alpha or beta thalassemia and whether they are a carrier or affected by the disease. Couples who both carry a thalassemia gene have a 25% chance with each pregnancy of having a child with the major form of the disease—a condition that often requires lifelong blood transfusions and medical care.

Who Should Be Screened and When?

Experts recommend that individuals with family origins in Mediterranean countries, Southeast Asia, the Middle East, and parts of Southern China undergo pre-pregnancy screening. Early testing enables informed family planning decisions, including options like prenatal diagnosis, preimplantation genetic diagnosis (PGD), or adoption. Importantly, no special preparation is needed for these tests—they are simple, safe, and usually covered by health insurance when medically indicated.

Prevention Starts Before Conception

Proactive screening empowers couples with knowledge and choices. By identifying carrier status before pregnancy, families can take meaningful steps to prevent the transmission of serious genetic disorders. Public health initiatives in high-risk areas now emphasize education and accessible testing programs to reduce the global burden of thalassemia.