Mediterranean anemia (also known as thalassemia)
Hello Doctor, I previously experienced two miscarriages.
Both my partner and I have undergone chromosomal and immune testing, and the results were normal.
I found information online suggesting that thalassemia is caused by chromosomal abnormalities.
Since our chromosomal tests came back normal, does this mean we do not have any issues with thalassemia? Additionally, I would like to ask about a symptom I experience: about a week before my menstrual period, when I suddenly stand up, I feel dizzy for a few seconds and my vision goes black.
Is this normal, or could it indicate that I have anemia? Thank you for clarifying these concerns, Doctor.
Niming, 20~29 year old female. Ask Date: 2018/06/12
Dr. Zhang Kunmin reply Obstetrics and Gynecology
Hello, the questioner: Thalassemia is a genetic issue that requires genetic testing for confirmation.
For anemia, a blood test to check hemoglobin levels is necessary for diagnosis.
Thank you! Wishing you peace and health, Dr.
Zhang.
Reply Date: 2018/06/12
More Info
Understanding Mediterranean Anemia, also known as Thalassemia, is crucial for individuals who may be at risk or have concerns regarding their health. Thalassemia is a genetic blood disorder characterized by reduced production of hemoglobin, which can lead to anemia. It is important to clarify some common myths and facts surrounding this condition, especially in light of your recent experiences and concerns.
Firstly, it is essential to understand that Thalassemia is indeed caused by genetic mutations, but these mutations are not necessarily linked to chromosomal abnormalities that would show up in standard chromosome tests. Instead, Thalassemia is typically caused by mutations in the genes responsible for hemoglobin production. Therefore, even if your chromosomal tests came back normal, it does not completely rule out the possibility of being a carrier of Thalassemia. Carriers often have no symptoms and may not be aware of their status unless specifically tested for Thalassemia traits. Genetic testing for Thalassemia specifically, which looks at the hemoglobin genes, would provide more definitive information.
Regarding your symptoms of dizziness and temporary vision loss when standing up quickly, this could be indicative of orthostatic hypotension, which is a drop in blood pressure upon standing. While this can occur in individuals with anemia, it is not exclusively a sign of it. Other factors, such as dehydration, low blood sugar, or even hormonal changes related to your menstrual cycle, could also contribute to these symptoms. It is advisable to monitor your symptoms and consult with a healthcare provider to rule out any underlying conditions, including anemia. A complete blood count (CBC) test can help determine if you have anemia by measuring your hemoglobin levels and other blood parameters.
In summary, while normal chromosomal tests are reassuring, they do not eliminate the possibility of being a carrier for Thalassemia. If you have concerns about Thalassemia or anemia, consider discussing with your healthcare provider about specific genetic testing for Thalassemia and a complete blood count to assess your overall blood health. Additionally, if your dizziness persists or worsens, it is crucial to seek medical advice to ensure that any potential issues are addressed promptly.
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