Mediterranean Anemia: CBC Screening and Genetic Implications - Internal Medicine

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Mediterranean anemia, commonly known as thalassemia, is a genetic blood disorder characterized by reduced hemoglobin production. This condition can lead to various degrees of anemia, and its screening often begins with a Complete Blood Count (CBC). The CBC provides valuable information, including Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH), which help in identifying microcytic anemia, a common feature of thalassemia.

1. CBC Screening and Genetic Implications: While a CBC is a useful initial screening tool, it is not definitive for ruling out all carriers of Mediterranean anemia. Individuals with a single alpha gene deletion (α-thalassemia carrier) may present with normal MCV and MCH values, which can lead to a false sense of security. In fact, carriers often do not exhibit any clinical symptoms, and their blood tests may appear normal, except for MCV values that hover at the lower limit of normal. Therefore, relying solely on CBC results can miss carriers of thalassemia, particularly in cases of mild forms of the disease. For a comprehensive evaluation, genetic testing is recommended, especially if there is a family history of thalassemia or if the individual belongs to a high-risk ethnic group.

2. Genetic Risks in Couples: If two individuals who are both carriers of a single alpha gene deletion marry, there is a risk of having children with more severe forms of thalassemia. Specifically, if both parents pass on the gene deletion, their child could inherit two alpha gene deletions, leading to a condition known as Hemoglobin H disease or even more severe forms of alpha-thalassemia. This can result in moderate to severe anemia, requiring medical management. Therefore, genetic counseling is crucial for couples with known carrier status, as it can provide insights into the potential risks for their offspring and guide them in making informed reproductive choices.

In summary, while CBC is a valuable first step in screening for Mediterranean anemia, it is essential to follow up with genetic testing for a more accurate diagnosis, especially in cases where thalassemia is suspected. Couples with known carrier status should seek genetic counseling to understand the implications for their future children. This proactive approach can help manage the risks associated with thalassemia and ensure that affected individuals receive appropriate care and treatment.