Mediterranean anemia
I understand that both you and your girlfriend have thalassemia, but you really like her and don't want to let this condition determine your future together.
Since both of you have mild forms of the condition, but are unsure whether you have alpha or beta thalassemia, you may be concerned about the implications for marriage and having children.
It is important to consult with a genetic counselor or a hematologist who specializes in thalassemia.
They can provide you with detailed information about the risks of passing on the condition to your children and discuss potential options, such as prenatal testing or assisted reproductive technologies.
With proper guidance and support, it may still be possible for you to have a fulfilling relationship and family.
Xiao Fei, 20~29 year old female. Ask Date: 2002/05/28
Dr. Chen Bairong reply Cardiology
(Answered by Dr.
Jiang-Ru Tang from Hualien Hospital) Hello, Xiao Fei: 1.
To differentiate between alpha or beta thalassemia (formerly known as Mediterranean anemia), a serum electrophoresis test can be performed.
2.
If both parents are carriers of the mild form, there is a 1 in 4 chance that the child will be completely normal, a 1 in 2 chance that the child will also be a mild carrier and can grow normally, and a 1 in 4 chance that the child will have the severe form.
Assuming gene 0 is normal and gene 1 is abnormal, normal individuals are (0,0), you are a mild carrier (0,1), and we are concerned about the severe form (1,1), which could lead to miscarriage or lifelong blood transfusions.
The combination of you and your partner (0,1) * (0,1) results in four possible genetic combinations for the child: (0,0): completely normal, (0,1): mild carrier, (1,0): mild carrier, (1,1): severe form, with only a 1 in 4 chance of the severe form.
Therefore, you can rest assured and focus on loving her.
As long as you undergo prenatal screening in the early stages of pregnancy, you still have a 3 in 4 chance of having a healthy child.
If, by chance, the pregnancy is for a child with severe thalassemia, it is generally recommended to consider termination, and in the next pregnancy, you still have a 3 in 4 chance of having a healthy child.
Best wishes to you!
Reply Date: 2002/05/28
More Info
When it comes to couples with thalassemia considering marriage, it is essential to understand the implications of this genetic condition on their future family planning. Thalassemia is a blood disorder characterized by reduced hemoglobin production, leading to anemia and other health complications. There are different types of thalassemia, primarily classified into alpha and beta thalassemia, with varying degrees of severity.
If both partners have thalassemia, particularly if they both have the trait (often referred to as "carrier" status), there are important considerations to keep in mind regarding the potential health of future children. If both partners are carriers of the thalassemia trait, there is a 25% chance with each pregnancy that their child will inherit the condition in a more severe form, which could lead to significant health issues. This is known as the "1 in 4" rule in genetics.
However, if both partners have mild forms of thalassemia (such as thalassemia minor), the risk of having a child with severe thalassemia (thalassemia major) is lower, but it is still present. Therefore, genetic counseling is highly recommended for couples in this situation. A genetic counselor can provide detailed information about the specific types of thalassemia each partner has and the associated risks for their offspring. They can also discuss options such as prenatal testing, which can determine if a fetus has inherited thalassemia.
In addition to genetic counseling, couples may consider other options if they are concerned about the risks of passing on thalassemia to their children. These options may include:
1. Prenatal Testing: If the couple decides to conceive, prenatal testing can be performed to determine if the fetus has inherited thalassemia. This can help the couple make informed decisions during the pregnancy.
2. In Vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD): This technique allows for the selection of embryos that do not carry the thalassemia gene before implantation. This can significantly reduce the risk of having a child with severe thalassemia.
3. Adoption: Some couples may choose to adopt children, which can be a fulfilling way to build a family without the genetic risks associated with thalassemia.
4. Sperm or Egg Donation: If one partner is a carrier and the other has thalassemia, they might consider using donor sperm or eggs from a non-carrier to reduce the risk of passing on the condition.
5. Counseling and Support: Engaging in counseling can help couples navigate the emotional and psychological aspects of their situation. Support groups for individuals with thalassemia or for couples facing similar challenges can also provide valuable resources and community support.
In conclusion, while having thalassemia presents certain risks for couples considering marriage and starting a family, it does not preclude them from marrying or having children. With the right information, support, and medical guidance, couples can make informed decisions that align with their desires and health considerations. It is crucial to seek professional advice and explore all available options to ensure the best possible outcomes for both the couple and their future children.
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