Should You See a Doctor for Thalassemia Concerns?

Q: Should You See a Doctor for Thalassemia Concerns?

Dear Miss Wenwen：<br>1. <br>Thalassemia, known in Chinese as "海洋性貧血" or "地中海型貧血," is an autosomal recessive genetic disorder. <br>It is primarily classified into two types： α-thalassemia and β-thalassemia, similar to what is taught in middle school regarding Mendelian inheritance

Should individuals with thalassemia see a doctor?

Hello doctor, there is a history of thalassemia in my family, and I suspect I might have it as well.
During high school, I was diagnosed during a health check-up.
I have previously experienced palpitations, and a cardiology examination revealed a valve deformity.
Can thalassemia potentially lead to heart problems? I'm wondering if my thalassemia is moderate and if I need to see a doctor.
My symptoms are only pale complexion, poor stamina, and easy shortness of breath.
If I need to seek medical attention, which specialty should I consult? Thank you.

Wenwen, 10~19 year old female. Ask Date: 2017/06/20

Dr. Xiao Yongxun reply Internal Medicine

Dear Miss Wenwen:
1.
Thalassemia, known in Chinese as "海洋性貧血" or "地中海型貧血," is an autosomal recessive genetic disorder.
It is primarily classified into two types: α-thalassemia and β-thalassemia, similar to what is taught in middle school regarding Mendelian inheritance.
The former is determined by the α1, α2, α3, and α4 genes, while the latter is determined by the β1 and β2 genes.
The symptoms become more pronounced as the factors contributing to thalassemia increase; the main manifestation is a decrease in red blood cell volume, while the total number of red blood cells compensatorily increases.
If the total hemoglobin level is normal, the individual will not exhibit significant symptoms and can still marry, have children, and even serve in the military.
Only in cases of severe thalassemia is special treatment required.
2.
To my knowledge, current medical literature has not found a correlation between thalassemia and cardiac issues.
3.
If you feel there is a problem, you may consult your family physician or directly visit a hematologist for inquiries and blood tests.
The classification of mild or severe thalassemia requires objective data to support it, in addition to the symptoms.

Reply Date: 2017/06/20

More Info

Thalassemia, commonly known as Mediterranean anemia, is a genetic blood disorder characterized by the body’s inability to produce adequate hemoglobin, leading to anemia. Given your family history and previous health screenings, it is understandable that you are concerned about your own health status, particularly regarding the potential for thalassemia and its associated complications.

Firstly, it is crucial to recognize that thalassemia can indeed lead to various health issues, including cardiovascular problems. Chronic anemia, as seen in thalassemia, can cause the heart to work harder to pump blood, which may lead to complications such as heart palpitations, heart failure, or other cardiac issues over time. Your experience of heart palpitations and the findings of a valve deformity during a cardiac examination could potentially be linked to your anemia. Therefore, it is essential to address these symptoms with a healthcare professional.

Regarding your symptoms of pale complexion, fatigue, and shortness of breath, these are common manifestations of anemia. While these symptoms may not seem severe, they can significantly impact your quality of life and may indicate that your anemia is affecting your overall health. Given your concerns about thalassemia, it is advisable to seek medical attention.

You should consider visiting a hematologist, a specialist in blood disorders, who can provide a comprehensive evaluation of your condition. A hematologist can conduct specific tests, such as a complete blood count (CBC), hemoglobin electrophoresis, and possibly genetic testing, to determine the type and severity of thalassemia you may have. They can also assess your iron levels and overall blood health to rule out other causes of anemia.

If you are experiencing significant symptoms or if your anemia is confirmed to be moderate or severe, treatment options may include regular blood transfusions, iron chelation therapy (to prevent iron overload from repeated transfusions), and possibly other supportive therapies. In some cases, a bone marrow transplant may be considered, especially for more severe forms of thalassemia.

In summary, given your family history, previous health screenings, and current symptoms, it is advisable to see a doctor, specifically a hematologist, for a thorough evaluation of your thalassemia concerns. Early diagnosis and management can help prevent complications and improve your quality of life. Additionally, if you have any ongoing cardiac symptoms, it may also be beneficial to keep your cardiologist informed about your hematological status, as they can work together to ensure comprehensive care.

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