Thalassemia and Assisted Reproductive Technology

Thalassemia can cause an enlarged spleen that can increase the risk of infection. It can also lead to heart problems such as congestive heart failure or abnormal heart rhythms. Though there is no way to prevent thalassemia, knowing about the condition and its symptoms is essential. If you suspect that you may be affected by it, you should consult a genetics counselor specializing in health problems in families.

Symptoms

Thalassemia is a condition that can affect blood red cells. A defect in the hemoglobin protein causes it. This protein carries oxygen around the body. Symptoms can be mild or severe. Patients with thalassemia often need medical treatment. Genetics is a significant factor in developing the condition. This is because the disease is hereditary. It is not contracted, like the common cold or flu.

Treatments for thalassemia can include bone marrow or stem cell transplants. Surgical procedures can replace damaged red blood cells with healthy cells from a donor. The donor is usually a family member. Patients with thalassemia must also avoid being around sick people or infections. They should also receive annual flu shots and vaccinations for meningitis, pneumonia, and hepatitis B. Patients should also visit their physician if they develop a fever or experience other signs and symptoms of thalassemia.

Other symptoms of thalassemia include an enlarged spleen. The enlarged spleen can cause infections and even lead to osteoporosis.

Treatment

Thalassemia treatment options vary depending on the severity of the disease. Generally, the more severe the condition, the less hemoglobin the body produces, resulting in increased anemia. Several medications are available to help reduce the effects of the disease, including oral medication and blood transfusions. If left untreated, the symptoms can become life-threatening.

In some cases, bone marrow transplants are the only treatment for thalassemia. However, these are intensive treatments that carry significant risks. In these procedures, stem cells from healthy donors are given through a vein to the patient and begin producing healthy red blood cells. However, these treatments are expensive and are not suitable for everyone.

One type of treatment for thalassemia is HSCT (hemoglobin replacement therapy). HSCT offers the best quality of life compared to other forms of treatment. Depending on your health history, you can receive stem cells from either sibling or unrelated donors. In some cases, stem cells from the bone marrow or the peripheral blood can be used.

Assisted reproductive therapy

Assisted reproductive technology is a technique for screening embryos for inherited diseases and disorders. These tests can detect genetic defects in the embryo during in vitro fertilization. The process improves the chances of conceiving a healthy baby for couples with thalassemia. Patients with thalassemia should consider genetic testing before undergoing in vitro fertilization.

Although pregnancy is a potentially high risk for women with thalassemia, advances in treatment have increased the life expectancy of thalassemic individuals. Therefore, a standard management plan should be followed for women with thalassemia who plan to get pregnant. The first step is a thorough preconception assessment and risk assessment. This way, the pregnancy can be planned with fewer risks.

Certain types of Thalassaemia can be treated through regular blood transfusion. However, repeat transfusions may be necessary to maintain a healthy supply of red blood cells. The procedure is costly and can risk transmitting viruses or diseases. Furthermore, repeated transfusions can lead to iron overload. Over time, too much iron in the blood can damage the heart and liver.