Mediterranean anemia (also known as thalassemia)
Hello Doctor: Both my husband and I have thalassemia.
Before pregnancy, we underwent genetic testing for thalassemia, and the results showed that I have beta-thalassemia and my husband has alpha-thalassemia (Southeast Asian type).
After confirming that we belong to different types, we had a pair of children who are now almost ten years old.
During several medical visits for blood tests, we found that our daughter has low MCV (in the 60s) and MCH (in the low 20s), with hemoglobin levels of 11-12, which is close to normal but not anemic, similar to our previous blood test results.
Question 1: Additionally, our daughter's RDW is slightly elevated (around 14-16).
Does this value have clinical significance? I found that it seems to have no particular significance? Our son has MCV (77-78) and MCH (26-27), with slightly low but nearly normal HCT, and his numbers are better than those of the parents, with hemoglobin levels above 13.
Question 2: I have read that if a child inherits (alpha-thalassemia + beta-thalassemia), their anemia may be milder than that of the parents.
Is there a possibility for our son to have this? Question 3: They both seem to have mild thalassemia, right? (Similar to the parents), their growth is good, they eat well, and their weight and height are consistently in the 85-95% range for their age group.
After summer, they will be in the fourth grade.
My husband feels there is no rush to determine the type, and I am also not inclined to take the children to the hospital frequently...
so I wanted to consult your opinion first.
Thank you for your response.
Mi Ya, 40~49 year old female. Ask Date: 2022/07/12
Dr. Xiao Kaiwen reply Pediatrics
Question 1: RDW has relatively little clinical significance in the diagnosis of thalassemia.
Question 2: The genetic variations of alpha thalassemia and beta thalassemia are completely different and theoretically do not influence each other, so there is no theory that a child with (alpha thalassemia + beta thalassemia) would have a milder form of anemia than their parents.
Question 3: They are indeed classified as having mild thalassemia, which does not adversely affect daily life or growth.
The only consideration is to undergo premarital health screening with a partner to avoid having a child with a more severe form of the disease; currently, there is no urgency to perform further classification.
Reply Date: 2022/07/12
More Info
Mediterranean anemia, also known as thalassemia, is a genetic blood disorder characterized by reduced hemoglobin production, leading to anemia. It is essential for parents, especially those with a family history of the condition, to understand its implications for their children. In your case, both you and your husband carry different types of thalassemia genes—Beta thalassemia and Alpha thalassemia. This genetic background can influence the health of your children.
Understanding the Test Results
1. Red Cell Indices: Your daughter's low MCV (Mean Corpuscular Volume) and MCH (Mean Corpuscular Hemoglobin) indicate microcytic anemia, which is common in thalassemia. The RDW (Red Cell Distribution Width) being slightly elevated suggests a variation in red blood cell size, but as you noted, it may not have significant clinical implications in the context of thalassemia.
2. Sibling Comparison: Your son’s blood indices show better values than your daughter’s, which is not uncommon. Children with thalassemia trait often have milder symptoms and may not exhibit significant anemia. The fact that he has higher hemoglobin levels suggests that he may not be affected as severely as his sister.
Genetic Implications
1. Inheritance Patterns: Thalassemia is inherited in an autosomal recessive manner. This means that for a child to have a significant form of thalassemia, they must inherit two defective genes—one from each parent. Since you and your husband have different types, the likelihood of your children having a severe form of thalassemia is low, but they can still be carriers.
2. Milder Symptoms: The notion that children inheriting one gene from each parent (one from the Alpha and one from the Beta thalassemia) may experience milder symptoms is somewhat accurate. However, the specific clinical manifestations can vary widely, and it is essential to monitor their health regularly.
Monitoring and Care
1. Regular Check-ups: While your children are currently healthy and thriving, regular check-ups with a pediatrician or a hematologist are advisable. This will help monitor their blood counts and ensure that any potential issues are addressed early.
2. Diet and Lifestyle: Maintaining a balanced diet rich in iron and vitamins is crucial for children with thalassemia. However, be cautious with iron supplementation, as excessive iron can be harmful, especially in thalassemia patients.
3. Education and Awareness: As your children grow, educating them about their condition and the importance of regular health check-ups will empower them to manage their health proactively.
Conclusion
In summary, while your children may have inherited thalassemia traits, their current health status appears stable, and they are developing well. The likelihood of severe anemia is low, but ongoing monitoring and a healthy lifestyle are essential. If you have further concerns or questions, particularly regarding genetic counseling or specific health management strategies, consulting with a healthcare professional specializing in genetics or hematology would be beneficial. This proactive approach will help ensure that your children continue to thrive and remain healthy.
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