Thalassemia Explained: Symptoms, Inheritance, and Why Carrier Screening Matters Before Pregnancy

ByDiwanshu Dika
Updated: 19 Dec 2025, 12:00 pm

Thalassemia is a hereditary blood disorder that silently passes from parents to their children. Understanding its symptoms, inheritance, and carrier screening is crucial to prevent severe complications and make the right decision before pregnancy.

Pregatips
Thalassemia is a genetic blood disorder that affects the body’s ability to produce red blood cells. While many people carry the same gene without experiencing symptoms, thalassemia can lead to severe health complications if passed to a child. However, if both partners carry the thalassemia gene, the risk of having a child with severe thalassemia increases significantly.
In this article:

If you’re planning for pregnancy, understanding this condition, especially its inheritance patterns and the importance of carrier screening, is crucial to make the right choice. Let’s discuss what thalassemia is, its symptoms, how it is inherited, and why screening before pregnancy is crucial.

What is Thalassemia?

Thalassemia is a genetic blood disorder in which the body produces fewer or abnormal haemoglobin, which is responsible for carrying oxygen throughout the body. When the body doesn’t make it properly, organs and tissues receive less oxygen, leading to fatigue and other health issues. Generally, there are two types of thalassemia: Alpha thalassemia (affects the production of alpha globin chains) and Beta thalassemia (affects beta globin production).

Note: This condition ranges from mild to severe, depending on the number of faulty genes a person inherits.

Symptoms of Thalassemia

Thalassemia symptoms may vary depending on the severity of the condition. Here are the common signs and symptoms of thalassemia.

  • Fatigue & Weakness

Low haemoglobin levels reduce oxygen supply to tissues, causing tiredness all the time.

  • Pale or Yellowish Skin

Poor oxygenation and red blood cell breakdown can cause jaundice.

  • Delayed Growth in Children

Thalassemia can slow down physical growth and delay puberty due to insufficient oxygen and nutrient delivery to tissues.

  • Bone Deformities

The body increases bone marrow activity, leading to enlarged facial and skull bones in untreated cases.

  • Enlarged Spleen

The spleen works hard to remove damaged red blood cells, which can lead to enlargement over time.

How is Thalassemia Inherited?

Thalassemia is inherited in an autosomal recessive pattern from parents to children. A child develops the disease only when they inherit a faulty thalassemia gene from both parents. If the child receives just one defective gene, they become a carrier and usually remain symptom-free. Here’s how thalassemia is inherited.

  • If Both Parents are Carriers

When both parents carry the thalassemia trait, each pregnancy carries specific risks. The child has 25% of inheriting faulty genes from both parents and developing thalassemia major (severe form). On the other hand, the child has a 50% chance of inheriting one defective gene and becoming a carrier. The child has 25% of inheriting normal genes and remaining unaffected.

  • If One Parent is a Carrier

If only the parent carries the faulty gene, the child may inherit it and become a carrier, but the child will never develop thalassemia major. Generally, carrier children stay healthy but can pass the gene to their own children later in life.

Why is Carrier Screening Before Pregnancy Important?

Carrier screening is an important decision that couples can make before starting a family. Here’s why carrier screening before pregnancy is essential.

  • Helps You Understand Reproductive Risks

Carrier screening is crucial for determining whether one or both partners carry the same thalassemia gene. Since most carriers show no symptoms, undergoing screening provides clarity about your reproductive health. Knowing about the condition early helps you understand the possibility of having a child with the faulty gene and plan accordingly.

  • Prevents Complications During Pregnancy

Having a thalassemia trait can sometimes influence a mother’s haemoglobin levels during pregnancy. Early diagnosis helps you identify the faulty gene, enabling your doctor to monitor and manage anaemia and ensure an adequate oxygen supply for both mother and baby. Furthermore, early screening helps avoid last-minute surprises and supports a healthier pregnancy journey.

  • Reduces the Risks of Passing Thalassemia to the Child

Screening before conception allows couples to take the right step to prevent severe conditions like Beta Thalassemia major (severe form). It requires lifelong blood transfusions and medical care. When you understand your carrier status early, you can plan a safe pregnancy and ultimately lower the chances of your child inheriting a defective thalassemia gene.

Thalassemia may be silent, but it is a severe genetic blood disorder which can easily be passed down from parents to their child. Understanding its symptoms, inheritance pattern, and long-term effects may help couples take proactive steps before planning a pregnancy. Carrier screening is a simple yet powerful tool that can prevent severe diseases in future generations. With early diagnosis, genetic counselling, and medical support, families can plan pregnancies safely and confidently.

You’re not alone in your journey when trying to conceive. Join our supportive community to connect with others, share experiences, and find encouragement every step of the way.

FAQs on Thalassemia Explained: Symptoms, Inheritance, and Why Carrier Screening Matters Before Pregnancy

  1. Is thalassemia contagious?
    No, thalassemia is a genetic condition and cannot spread from one person to another.
  2. Can thalassemia carriers live an everyday life?
    Yes, carriers typically have mild or no symptoms and live completely normal lives.
  3. Is thalassemia screening required during pregnancy?
    Yes, doctors recommend screening during early pregnancy, but doing it before conception gives couples more choices.
Medically Reviewed By:
Dr Aastha Gupta, Senior IVF Consultant & Fertility Expert-Obs/ Gynae, Delhi IVF, New Delhi

Related Stories

  1. Thalassemia Explained: Symptoms, Inheritance, and Why Carrier Screening Matters Before Pregnancy
  2. Pre-Pregnancy Mental Health: Why It Matters for Conception Success
  3. What Your Weight Before Conception Means for Your Baby’s Health Throughout Pregnancy
  4. Understanding Fertility Through Period Health: 5 Signs Your Hormones Need Attention
  5. What Cramps and Clots in Periods Reveal About Egg Health and Ovulation Strength
  6. Fix Your Period: Natural Nutrition and Lifestyle Secrets for Hormone Harmony