Understanding Thalassemia: An Overview

A thalassemia is a group of blood disorders inherited from the parents. It affects how your body makes haemoglobin, the oxygen-carrying protein in red blood cells. It can range from a mild form, thalassemia trait, to a severe and life-altering form, thalassemia major. This condition is prevalent in the Mediterranean, the Middle East, and some parts of Asia. For women planning or experiencing pregnancy, understanding thalassemia is vital. It can profoundly impact a woman's health and her baby's well-being. In this blog, let's explore the differences between the thalassemia trait and major and provide compassionate guidance for navigating pregnancy.

Thalassemia Trait: What is it, and How does it affect pregnancy?

Thalassemia trait, also known as thalassemia minor or carrier state, is a milder form of this condition. It is inherited when an individual inherits one normal haemoglobin gene and one thalassemia gene from their parents. It is relatively common, with an estimated 1 in 20 individuals worldwide being carriers of the trait.

Individuals with thalassemia trait typically have a normal life expectancy and may not experience significant health issues. However, the thalassemia trait can still have implications requiring careful pregnancy management. While women with thalassemia trait generally do not face severe complications during pregnancy, there are a few essential factors to consider:

• Anaemia: Women with thalassemia trait may be more prone to developing anaemia during pregnancy, which can be managed through dietary adjustments and, in some cases, supplementation.
• Foetal Health: There is a 25% chance that a child born to a couple where both partners have the thalassemia trait will inherit the more severe form of thalassemia, known as thalassemia major. Prenatal testing is crucial to identify the foetus's genetic status and plan for appropriate care.
• Genetic Counselling: Couples with thalassemia trait should seek genetic counselling to understand the risks and options available to them, such as preimplantation genetic testing or prenatal screening.

Thalassemia Major: Understanding the Challenges and Risks During Pregnancy

Thalassemia major, also known as Cooley's anaemia, is the more severe form of the condition. Thalassemia major is inherited when an individual inherits two thalassemia genes, one from each parent. It is a rare condition, with an estimated global prevalence of 1 in 100,000 individuals.

Individuals with thalassemia major require lifelong management and care, which can pose significant challenges during pregnancy. Pregnancy in women with thalassemia major is considered high-risk and requires close monitoring and specialised care. The challenges and risks include:

• Severe Anemia: Individuals with thalassemia major typically have severe anaemia, which can be exacerbated during pregnancy and lead to various complications.
• Cardiac Complications: Thalassemia major can cause heart problems, such as heart enlargement and heart failure, which the physiological changes of pregnancy can further strain.
• Increased Incidences of Preterm Birth & Low Birth Weight: Thalassemia major is associated with a higher risk of preterm delivery & low birth weight infants, which can have long-term consequences on the development of the child.
• Increased Risk of Maternal Mortality: Pregnancy in women with thalassemia major carries a higher risk of maternal mortality, underscoring the importance of comprehensive care and monitoring throughout the gestational period.

Prenatal Diagnosis: Detecting Thalassemia in Pregnancy

Accurate and timely prenatal diagnosis is crucial for managing thalassemia during pregnancy. Various diagnostic techniques are available to assess the foetus's genetic status and guide decision-making.

• Carrier Screening: Carrier screening, typically performed before or during early pregnancy, can identify individuals who carry the thalassemia trait. This information is essential for couples to understand their risk of having a child with a thalassemia major.

Diagnostic Test-

• Chorionic Villus Sampling (CVS): CVS is a prenatal diagnostic test performed during the first trimester of pregnancy. It involves collecting a small sample of placental tissue, which can be analysed for the presence of thalassemia genes.
• Amniocentesis: Amniocentesis is a prenatal diagnostic examination performed during the second trimester of pregnancy. It involves collecting a small amount of amniotic fluid and analysing it for the presence of thalassemia genes.

Genetic Counselling for Thalassemia in Pregnancy

Genetic counselling plays a crucial role in navigating the complexities of thalassemia during pregnancy. Qualified genetic counsellors can provide personalised guidance and support to couples, helping them understand the genetic implications, assess their risks, and make informed decisions.

• Preconception Counselling: Couples with carrier for thalassemia  or other haemoglobinopathies planning a pregnancy should seek genetic counselling to assess their carrier status and understand the potential risks of passing on thalassemia major to their offspring.
• Prenatal Counselling: During pregnancy, genetic counsellors can help couples interpret the results of prenatal diagnostic tests, discuss the implications of the findings & explore various management approaches, including the possibility of terminating or continuing the pregnancy.
• Ongoing Support: Genetic counsellors can also provide ongoing support and guidance throughout the pregnancy, addressing the emotional and practical concerns that may arise for families affected by thalassemia.

Pregnancy Care for Women with Thalassemia Trait

Generally, the thalassemia trait doesn't show any major symptoms, but it may be a cause of concern during pregnancy. For women with the thalassemia trait, overall management during pregnancy is relatively straightforward but still requires careful monitoring and appropriate interventions:

• Anaemia Management: As mentioned earlier, women with the thalassemia trait may be more prone to developing anaemia during pregnancy. Its management may include dietary adjustments, such as increasing the intake of iron-rich foods and, if necessary, supplementation under the guidance of a doctor.
• Foetal Monitoring: Regular prenatal check-ups and screening tests are essential to monitor the foetal's growth and development and assess the child's risk of inheriting thalassemia major.
• Genetic Counselling: Couples with thalassemia trait should seek genetic counselling to understand the risks and options available to them, such as preimplantation genetic testing or prenatal screening.
• Delivery and Postpartum Care: Women with thalassemia trait generally have a low-risk pregnancy and can typically deliver their babies through normal, vaginal delivery. Postpartum care may involve continued monitoring for anaemia and other potential complications.

Pregnancy Care for Women with Thalassemia Major

Pregnancy in women with thalassemia major is considered high-risk and requires specialised, multidisciplinary care throughout the gestational period and beyond, including:

• Preconception Counselling: Before becoming pregnant, women with a thalassemia major should engage in comprehensive preconception counselling to understand the risks, explore options for family planning, and develop a comprehensive care plan.
• Specialised Prenatal Care: Pregnant women with thalassemia major require regular, specialised prenatal care, including frequent monitoring of their health status, foetal growth and development, and managing any complications that may arise.
• Transfusion and Chelation Therapy: Maintaining optimal haemoglobin levels through regular blood transfusions and managing iron overload through chelation therapy are crucial for the health of the mother and the developing foetus.
• Nutritional Support: Women with thalassemia major need a tailored nutritional plan that meets the increased demands of pregnancy. Proper nutrition is crucial for women with thalassemia during pregnancy. These may involve increased iron intake, folic acid, and other essential vitamins and minerals to support the mother's and foetus's needs.
• Delivery and Postpartum Care: The mode of delivery for women with thalassemia major should be carefully planned, taking into account the mother's health status and the potential risks to both the mother and the child. Postpartum care may involve close monitoring and management of any complications.
• Multidisciplinary Team: Caring for women with thalassemia major during pregnancy requires a collaborative effort between haematologists, obstetricians, nurses, and other healthcare professionals to ensure the best possible outcomes.

Conclusion

Navigating the complexities of thalassemia during pregnancy can be a daunting experience. However, with the proper knowledge & support, women can make better decisions & take an active role in the care. By understanding the differences between the thalassemia trait and thalassemia major and the various management strategies available, women can feel empowered to advocate for their health and the well-being of their families.

FAQs

What is the difference between thalassemia trait and thalassemia major?

Thalassemia trait is a milder form of the condition in which an individual inherits one normal haemoglobin gene and one thalassemia gene. Thalassemia major is the more severe form, in which an individual inherits two thalassemia genes, one from each parent.

How does thalassemia affect pregnancy?

Women with thalassemia trait may be more prone to anaemia during pregnancy but generally have a low-risk pregnancy. Women with thalassemia major face more significant challenges, including increased risks of severe anaemia, cardiac complications, preterm birth, and maternal mortality.

What are the options for prenatal diagnosis of thalassemia?

In couple who is carrier for thalassemia minor or thalassemia and other hemoglobinopathies option of prenatal diagnosis are chorionic villus sampling (CVS) and amniocentesisThe choice of diagnostic test depends on factors such as gestational age and the couple's risk profile.

How is thalassemia managed during pregnancy?

Management of thalassemia during pregnancy involves a multidisciplinary approach, including medication management (such as blood transfusions and chelation therapy), nutritional support, close monitoring and surveillance, and specialised delivery planning.

Why is genetic counselling necessary for couples with thalassemia?

Genetic counselling helps couples understand their genetic risks, interpret prenatal test results, and make informed decisions about their pregnancy and family planning. It also provides ongoing support and guidance throughout the pregnancy.