Does Mediterranean anemia always get inherited?
Hello doctor, my sister is back and she is asking if it's possible to have a blood test for Mediterranean anemia at 31 weeks of pregnancy.
Both my sister and I have this genetic condition, and during the embryo screening, we didn't inform the doctor, resulting in both of her daughters inheriting it.
She is worried about the possibility of inheritance.
Can a blood test be done now to find out? Thank you.
Yazhi, 30~39 year old female. Ask Date: 2012/12/29
Dr. Lin Wenbin reply Obstetrics and Gynecology
There are two types of Mediterranean anemia: type A and type B.
Blood tests can initially check both partners' MCV (mean corpuscular volume).
If both values are below 80, further detailed testing is necessary to determine if they are carriers (which could be either type A or type B) or if they simply have iron deficiency anemia.
Unless both partners are carriers and of the same type, the fetus has a 50% chance of being a carrier and a 25% chance of having severe Mediterranean anemia.
In this case, the fetus will need to undergo cord blood testing.
Reply Date: 2012/12/29
More Info
Yes, Mediterranean anemia, also known as thalassemia, can be tested during pregnancy, even at 31 weeks. It is important to understand that thalassemia is a genetic blood disorder that affects hemoglobin production, and it can be inherited from parents who are carriers of the gene. Given your family history and the fact that both of your daughters have inherited the condition, it is prudent to consider testing during this pregnancy.
Testing for Mediterranean anemia typically involves a blood test that checks for hemoglobin levels and the presence of specific hemoglobin variants. In pregnant women, this testing can help determine if the mother is a carrier of the thalassemia gene and if there is a risk of passing it on to the fetus. The test can be performed at any point during the pregnancy, including the third trimester, as long as the healthcare provider deems it necessary.
If you are concerned about the potential for your unborn child to inherit Mediterranean anemia, it is advisable to discuss this with your obstetrician or a genetic counselor. They can provide you with detailed information about the testing process, the implications of the results, and any further steps that may be necessary based on the findings.
In addition to testing for thalassemia, it is also important to monitor the overall health of both the mother and the fetus during pregnancy. Regular prenatal check-ups can help ensure that any potential complications are addressed promptly. If the mother is a carrier of thalassemia, the healthcare provider may recommend additional monitoring and possibly further testing for the fetus, such as chorionic villus sampling (CVS) or amniocentesis, to determine if the fetus has inherited the condition.
It is also worth noting that while Mediterranean anemia can pose health challenges, many individuals with the condition lead healthy lives with appropriate management. This may include regular blood tests, iron supplementation, and in some cases, blood transfusions. Early detection and management are key to ensuring the best possible outcomes for both the mother and the child.
In summary, testing for Mediterranean anemia during pregnancy at 31 weeks is not only possible but also advisable given your family history. Engaging in open communication with your healthcare provider will help you navigate this process and make informed decisions regarding your health and the health of your baby.
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