Thalassemia: Risks and Symptoms for Children of Affected Parents

Mediterranean anemia, also known as thalassemia?

Hello Dr.
Liang,
I have some questions from my colleague:
1.
What is thalassemia?
2.
If a couple has two sons (elementary school students), and the husband has recently been diagnosed with beta-thalassemia while the mother’s health check is normal, is there a possibility that the children could be affected? What symptoms should we watch for to determine if the children are affected? Thank you!

ya ya, 20~29 year old female. Ask Date: 2002/06/06

Dr. Liang Hongjian reply Pediatrics

Mediterranean anemia, also known as thalassemia, is a recessive hereditary hemolytic disorder caused by genetic mutations affecting RNA.
Due to these genetic changes, it presents in various forms, such as alpha-thalassemia and beta-thalassemia.
Routine blood tests can typically determine whether an individual has the disease, but further testing is required to identify the specific type of anemia.
Early symptoms are often nonspecific, including pallor and jaundice, but severe cases may lead to impaired hematopoiesis, hemolysis, or even complications such as heart failure and liver cirrhosis.
In this case, the mother's health check was normal, which may indicate that she is either completely normal or a carrier of one abnormal gene without showing symptoms.
If the mother is a carrier, there is a 50% chance for the next generation to be normal and a 50% chance to inherit the disease.
If the mother is completely normal, the child would be a carrier without the disease manifesting.
Therefore, to confirm whether the child has the disease, the best approach is to consult a physician for blood testing, which is the most fundamental method.

Reply Date: 2002/06/06

More Info

Thalassemia, commonly referred to as Mediterranean anemia, is a genetic blood disorder characterized by the body’s inability to produce sufficient hemoglobin, the protein in red blood cells that carries oxygen. This condition is particularly prevalent in individuals of Mediterranean descent, but it can also affect people from various ethnic backgrounds. Thalassemia is classified into two main types: alpha thalassemia and beta thalassemia, depending on which part of the hemoglobin molecule is affected.

1. What is Thalassemia?
Thalassemia is caused by mutations in the genes responsible for hemoglobin production. These mutations can lead to reduced or absent production of one of the globin chains that make up hemoglobin. As a result, individuals with thalassemia may experience anemia, fatigue, weakness, and other complications due to the insufficient oxygen-carrying capacity of their blood. The severity of thalassemia can vary widely, ranging from mild forms that may not require treatment to severe forms that necessitate regular blood transfusions and other medical interventions.

2. Risks for Children of Affected Parents:
In your case, since the father has been diagnosed with beta thalassemia and the mother has normal hemoglobin levels, the risk of their children inheriting thalassemia depends on the genetic makeup of both parents. If the father is a carrier (has one mutated gene) or has the disease (two mutated genes), there is a possibility that the children could inherit the condition or be carriers themselves.
- If the father has beta thalassemia major (two mutated genes), all children will inherit one mutated gene from him, making them carriers (beta thalassemia trait). They may not show symptoms but can pass the gene to their offspring.

- If the father is a carrier (one mutated gene), there is a 50% chance with each pregnancy that a child will inherit the carrier status and a 25% chance that the child will inherit both mutated genes (if the mother is also a carrier, which is not the case here).

3. Symptoms to Watch For:
Children who inherit thalassemia may exhibit various symptoms, depending on the severity of the condition. Common symptoms of thalassemia include:
- Fatigue and weakness due to anemia
- Pale or yellowish skin (jaundice)
- Delayed growth and development
- Bone deformities, particularly in the face and skull, due to the expansion of bone marrow
- Dark urine
- Frequent infections
It is important to note that symptoms can vary significantly based on the type and severity of thalassemia. Some children may remain asymptomatic for years, while others may require medical intervention early in life.

4. Recommendations:
Given the father's diagnosis, it would be prudent for the family to consult a genetic counselor or a hematologist. They can provide comprehensive genetic testing for the children to determine if they are carriers of the thalassemia gene. Early diagnosis can help in managing any potential complications and ensuring appropriate monitoring and treatment if necessary.

In conclusion, while the presence of thalassemia in one parent increases the risk for children, the specific outcomes depend on the genetic status of both parents. Regular check-ups and open communication with healthcare providers are essential for managing any potential health issues related to thalassemia.

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