While planning to become parents, it's vital to consider every aspect of one’s life, including physical health, emotional readiness, and family history. While most couples focus just on diet, lifestyle and prenatal care, it’s equally important to be aware of any medical conditions that could affect the pregnancy or the baby. Some conditions may already be known and therefore planned for, while others might remain undiagnosed until pregnancy begins. A few health issues may be inherited from previous generations and passed down to the baby. As a result, fetal health could become severely impacted if adequate planning is not done in advance.
Thalassemia is one such medical condition that could become quite challenging for couples planning to conceive. In this article, we shall look at each and every aspect of this disease, including its potential impact on future pregnancies.
Thalassemia is an inherited disease caused by genetic mutations. These mutations or abnormalities affect the body’s ability to create haemoglobin, a type of iron-rich protein found in red blood cells. Haemoglobin’s chief purpose is to facilitate the transportation of oxygen, thus ensuring every organ in the body has the energy to perform its function. Reduced levels of haemoglobin mean that the body’s tissues and organs receive less oxygen than they need.
People with thalassemia have low haemoglobin levels, and their bone marrow makes a smaller number of healthy red blood cells. This leads to another medical condition known as anaemia.
To better understand the symptoms of thalassemia, it’s important to first learn about the different types of the condition.
Thalassemia is a result of genetic abnormalities that occur in the four protein chains present in haemoglobin, which are two alpha globin chains and two beta globin chains. Since this is a genetic disease, these abnormalities are passed down from the parents. The alpha chains have four genes (two inherited from each parent), while the beta chains have two genes (one from each parent). The type of thalassemia inherited depends on which chain has the genetic abnormality. The number of affected genes determines the severity of the condition.
Based on this, there are two types of thalassemia:
The number of faulty or missing alpha genes affects how serious alpha thalassemia is. If only one gene is affected, a person usually has no symptoms. With two affected genes, symptoms may appear but are usually mild. When three genes are faulty, this condition (also known as Haemoglobin H disease) becomes more serious and can cause moderate to severe symptoms. If all four alpha genes are missing or mutated (a condition known as hydrops fetalis with Haemoglobin Bart's), it often leads to death before or shortly after birth. In rare cases where the baby survives, they usually require regular blood transfusions for life.
If there is just one faulty or missing beta gene, there will usually be no noticeable symptoms. This condition is called beta thalassemia minor. However, when both beta genes are affected, the symptoms can range from mild to severe. The milder form of this is known as thalassemia intermedia, while the more severe form is called beta thalassemia major or Cooley’s anaemia.
Symptoms depend on the type and number of genes missing or abnormal.
● Asymptomatic: This occurs when one to two alpha genes or a single beta gene is abnormal. In some cases, a mild form of anaemia may be observed.
● Mild to Moderate Symptoms: This usually occurs in thalassemia patients with two faulty beta genes. Common symptoms are:
○ Delayed puberty
○ Growth and development impairment
○ Bone deformities or abnormalities like osteoporosis
○ Enlarged spleen
● Severe Symptoms: When the mutation is observed in three or four alpha genes or both beta genes, the symptoms could be quite severe, such as:
○ Severe lifelong anaemia
○ Skin that looks pale or yellowish
○ Irregular facial bone structure
○ Dark urine
○ Poor appetite
○ Weakened immune system
Thalassemia is typically diagnosed by using a blood test called a complete blood count (CBC). This test measures haemoglobin levels, as well as the size and quantity of red blood cells. A test called reticulocyte count is also sometimes recommended in order to check if the bone marrow is producing enough red blood cells. To figure out the type of thalassemia, genetic testing and a haemoglobin electrophoresis test may be utilised.
Thalassemia can be treated with blood transfusions, iron chelation therapy, and folic acid supplements. In some cases, a bone marrow transplant may be recommended.
Thalassemia can have adverse effects on fertility in both men and women. The symptoms as well as the treatments for thalassemia could negatively impact the reproductive system. This could lead to problems with conceiving a child or complications during pregnancy.
For women diagnosed with thalassemia, the most typical issues include delayed puberty and irregularity in the menstrual cycle and ovulation. In severe cases, hormonal imbalances and ovarian damage could also occur due to iron overload from repeated blood transfusions.
For men, erectile dysfunction could be a potential issue. Iron overload could lead to testicular damage and hormone imbalances that impair sperm production and quality.
Despite these issues, it is quite possible for thalassemia-afflicted individuals to conceive a child. Proper monitoring and regular consultations with fertility and genetic experts could lead to successful outcomes.
If conception has occurred and the couple is expecting a child, then it becomes even more critical to understand how thalassemia might affect both the pregnancy and the baby. Knowing what to expect and planning ahead with the help of healthcare professionals can make a big difference in ensuring a safer and healthier journey to parenthood.
For those diagnosed with thalassemia, careful planning and monitoring are essential for a safe pregnancy. Since there is a chance it could be passed on to the baby, especially if both parents are carriers, genetic counselling and prenatal testing can help understand the risks early on.
In severe cases, thalassemia patients may require repeated blood transfusions to maintain optimal haemoglobin levels. Since this can lead to iron overload, it is vital to manage iron levels during pregnancy to avoid complications.
Regular checkups, blood tests, and ultrasounds will be crucial for monitoring the health of both the mother and her baby.
Thalassemia is an inherited disease, and consequently, there is a chance that it could be passed down to the child. If both parents are suffering from the effects of the disease or are just carriers of the mutated genes but don’t suffer from the effects, then the child may either end up being afflicted by the disease or be just a carrier with no symptoms. However, if only one parent carries the mutated gene, then there is a 50% chance that the disease may not be passed on to the child.
Therefore, carrier screening is necessary in order to figure out if the child will be affected by the disease or end up being only a carrier of the mutated gene.
● A complete blood count (CBC) and haemoglobin electrophoresis test that’s done during early pregnancy.
● Ultrasound scans that detect specific physical abnormalities associated with thalassemia.
● Chorionic Villus Sampling (CVS), a test that checks a tiny sample of placental tissue for genetic mutations between 10 and 13 weeks.
● Amniocentesis (testing the amniotic fluid) between 15 and 20 weeks.
Genetic counselling and carrier screening are highly recommended when thalassemia patients consider becoming parents. To a great extent, thalassemia can be prevented from being passed on to the next generation by opting for assisted reproductive technology like IVF.
Once the embryos are created using IVF, preimplantation genetic testing will be conducted, and a few of the cells will be tested to see if they have any of the gene mutations that cause thalassemia. This allows the selection and implantation of healthy embryos that do not have thalassemia markers. This helps ensure the baby is born without thalassemia.
Thalassemia is, unfortunately, a lifelong condition. For couples who are affected by it or carry the gene, prenatal genetic counselling and screening are crucial steps that need to be performed before going ahead with conception. This could actually help prevent the disease from getting passed down to future generations.
