Thalassemia & Fertility | Meaning, Symptoms, Causes, Tests & Treatments

Know the Impact of Thalassemia on Pregnancy & Family Planning

World Thalassemia Day is observed on 8th May every year, to make people more aware of a critical health condition that you may unknowingly pass to your children at birth. So, who is this article for? Anyone who is planning to start a family, who is facing fertility issues, or someone who is already pregnant, and all those who want to prevent this health condition from affecting their children in the future. If you are one among them, then this World Thalassemia Day take the first step towards protecting yourself and your future generation from this critical disease. 

Thalassemia Meaning

Thalassemia is a blood-related problem that is passed on from parents to children through mutated haemoglobin genes. It is not an acquired but an inherited health issue that is commonly found among children and adults in India, Bangladesh, and Pakistan. Due to a lack of awareness, precaution, and timely fertility care, around 10,000 to 15,000 children in India are born with Thalassemia every year. 
In Thalassemia, the body suffers from genetic mutations that make it difficult to produce enough quantity of haemoglobin in the body. Haemoglobin is a protein structure in the RBC (Red Blood Cells) that is responsible for carrying and supplying oxygen to different parts of the body. As Thalassemia causes a shortage of red blood cells and haemoglobin, it can expose the patient to several health issues. Depending on the type, Thalassemia symptoms can range from mild and moderate to severe.

Thalassemia Symptoms

Common symptoms of Thalassemia include –

• Fatigue
• Yellow or Pale coloured skin
• Deformities in the facial structure
• Tiredness
• Abnormal Growth
• Dark Urine, etc.

Thalassemia Types

In the above paragraphs, we have understood Thalassmia meaning that is a condition of the blood that hinders an adequate production of haemoglobin in the body. The haemoglobin that is present in the RBCs is made of two identical chains of proteins called Alpha and Beta. Depending on which protein chain is defective, Thalassemia is categorized as Alpha Thalassemia or Beta Thalassemia. 

1. Alpha Thalassemia– When the Alpha chain has fewer or absolutely no connecting blocks to produce normal levels of haemoglobin, then it is called Alpha Thalassemia.

2. Beta Thalassemia– If the Beta chain of haemoglobin has reduced or no connectors, then the condition is marked as Beta Thalassemia.

Thalassemia can also be classified based on its severity. The different Thalassemia types include –

1. Thalassemia Trait– This is a state where only one parent has an abnormal DNA of haemoglobin molecule while the other parent has a normal gene. In this case, the child will be a Thalassemia trait carrier with mild anaemia. They will not have any Thalassemia symptoms or health issues. People with Thalassemia trait in pregnancy should take special care to have disease-free children.

2. Thalassemia Major– Major Thalassemia is a critical health disorder that requires immediate medical attention. It occurs when the person has two copies of defective genes of haemoglobin in his body. We will see the cause of this condition in detail in the below paragraphs.

3. Thalassemia Intermedia– Here, the symptoms of Thalassemia are not as mild as minor Thalassemia nor as severe as major Thalassemia. It is an intermediate condition that requires close monitoring of one’s health along with periodic medical check-ups.

Thalassemia Causes

Thalassemia is an inherited disorder, hence if you are a Thalassemia carrier or if you have a Thalassemia major or minor then it must have been passed down to you by your parents. This is why, in patients with this ailment, we can notice mutations in DNA cells forming the haemoglobin. 

1. Alpha Thalassemia:

In Alpha Thalassemia (where the DNA mutation has affected the haemoglobin molecules of the alpha chain), the grade of severity is in direct proportion to the number of mutated genes inherited.
That is, if you have inherited one mutated gene, then no evident Thalassemia symptoms or signs will be visible. If two mutated genes are present, it can be a case of alpha-Thalassemia trait with mild abnormalities. When three or four mutated genes are inherited, your symptoms can aggravate from mild to moderate or severe. 

2. Beta Thalassemia:

In Beta Thalassemia, (the block of haemoglobin molecules in the beta chain is abnormal), the part of the chain that is affected determines the severity of the problem. 
With one mutated gene, you will be diagnosed with beta-Thalassemia or Thalassemia minor, but with two gene mutations, it can become a case of Thalassemia intermedia or Thalassemia major. 

Thalassemia and Fertility

Thalassemia and infertility issues can double problems for patients. Thalassemia can impact your chances of conception. Even if you are undergoing treatment like a blood transfusion for Thalassemia major, you will have to take additional precautions like iron chelation injections to prevent iron overload. 

For instance, the pituitary gland that is responsible the regulating the activities of the testicles and ovaries may not function well because of damage from iron overload. This can lead to infertility issues like abnormal ovulation and sperm production in Thalassemia patients.

Other fertility problems caused by Thalassemia include hyperthyroidism, premature ovarian ageing (sooner than when compared to non-Thalassemia patients), etc.

Thalassemia and Pregnancy 

Pre-pregnancy medical examinations are unskippable when you or your partner has Thalassemia. Many a time, it may happen that a couple is not aware that they have Thalassemia and end it passing it on to their children. 

According to a report from the WHO (World Health Organisation), 4 million Indians are victims of Thalassemia and every year around 10,000 to 15,000 Indian children are affected by this condition at birth. This can happen when:

1. One partner is a Thalassemia minor:

If one of the partners has Thalassemia, then there is a 50% chance that their child is also a Thalassemia minor. But, there is also an equal possibility that the baby is Thalassemia-free.

2. Both partners have Thalassemia minor:

In such a situation, there is a 25% possibility that the child is born with Thalassemia major, a critical health condition. There is only a 25% chance of normalcy and in the rest 50% of cases, the child can have Thalassemia minor. 

Thalassemia Testing

A thalassemia test in pregnancy is very important. In fact, if you suspect having Thalassemia, then you should get yourself checked before planning to start your family. If needed, you and your partner can undergo a medical examination before marriage to check if both of you suffer from Thalassemia, and if yes, then what should be the next steps? For people who are diagnosed with this disorder in the later stages of life, it is important to take the necessary test during spontaneous pregnancy or before initiating fertility care.

A simple blood test can be used to diagnose this health condition.

How to conceive a healthy baby if you are a Thalassemia patient?

1. IVF and PGT:

With the development of advanced Assisted Reproductive Techniques like IVF (In Vitro Fertilisation), the possibility of conceiving a healthy child despite you suffering from Thalassemia has increased. This is through high-end procedures of Pre-Implantation Genetic Testing (PGT). 

In IVF, the embryo developed by fertilising the male and female gamete is cultured till the blastocyst stage. Once it has become a blastocyst (day 5 of growth), a biopsy is conducted, and the cells of the culture are sent for genetic analysis. This helps to clearly identify and segregate a diseased embryo from a healthy one. The good-quality embryo showing no signs of Thalassemia will then be used for an embryo transfer. If a successful implantation follows, then couples suffering from Thalassemia minor can also get a chance of conceiving a healthy child.

The IVF or ICSI method is also useful for people suffering from fertility issues due to Thalassemia.

2. Prenatal Diagnostic Testing:

Prenatal diagnostic testing methods such as CVS (Chorionic Villus Sampling) or amniocentesis can be helpful when couples with Thalassemia want to conceive a healthy baby without undergoing IVF or PGT. Taking a Thalassemia test during pregnancy gives you clarity on what should be your next step. Here are a few tests that your doctor may suggest.

1. CVS Testing: CVS stands for Chorionic Villus Sampling, a method to collect the chorionic villi cells from the placenta of an embryo and test them. As these sample cells have the same genes as the growing embryo, the result can help to predict whether the child will be born with a genetic blood disorder or not. CVS is done around 10 to 13 weeks of pregnancy.

2. Amniocentesis: This procedure involves extracting a small amount of fluid from the amniotic sac and then putting it in for testing. The amniotic fluid that surrounds the growing embryo contains some cells which can be used to see if the baby will be Thalassemia-free. Amniocentesis is done not earlier than 15 weeks of gestation. 

If the tests show Thalassemia major in the baby, then the parents should consult their doctor and decide the next steps. Pregnancy termination is an option that puts couples in great distress. Hence, IVF with PGT proves as a better alternative as it helps to choose a disease-free embryo before the stage of pregnancy. However, it is important to talk to a fertility expert or healthcare provider to carefully analyse the pros and cons of each method before planning their treatment.
 

To know more about how Indira IVF can help you in diagnosis & treatment of Thalassemia, reach out to us at 18003092323.