World Thalassaemia Day 2025 : The Everyday Realities Of Living With A Rare Blood Disorder

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Every year on 8th May, World Thalassaemia Day draws global attention to a lesser-known yet deeply impactful genetic condition-thalassaemia. With its roots in the very building blocks of our blood, thalassaemia isn't just a medical term; it represents the everyday realities of thousands living with varying forms of chronic anaemia. As we mark this year's observance, it's time to unpack what this condition entails, who it affects, and why awareness continues to matter.

Photo Credit: PTI

What Is Thalassaemia?

Thalassaemia arises from a fault in the genetic code responsible for producing haemoglobin, the vital protein in red blood cells that carries oxygen throughout the body. These faults, either missing or defective genes disrupt the creation of haemoglobin's alpha or beta globin chains. Since these genes are inherited from our parents, thalassaemia is a hereditary condition.

The impact varies greatly depending on which globin chain is affected and how many genes are defective. Some may never notice any symptoms, while others may require regular medical intervention from infancy.

Understanding The Spectrum : Trait To Major

The severity of thalassaemia exists on a broad spectrum:

Thalassaemia Trait (or minor): Usually asymptomatic or involves mild anaemia. Often goes undiagnosed unless tested.

Thalassaemia Intermedia: Moderate symptoms such as fatigue, delayed growth, and bone changes.

Thalassaemia Major: A life-threatening condition needing regular transfusions and long-term care.

Whether alpha or beta chains are affected determines the classification and management of the condition.

Alpha Thalassaemia : A Matter Of Four Genes

Alpha thalassaemia relates to four genes, two from each parent responsible for producing alpha globin chains. The number of faulty genes determines the condition's severity:

One faulty gene - Alpha Thalassaemia Minima: Silent carrier, no symptoms.

Two faulty genes - Alpha Thalassaemia Minor: Mild anaemia, often no treatment needed.

Three faulty genes - Haemoglobin H Disease: Moderate to severe symptoms, may require regular care.

Four faulty genes - Hydrops Fetalis with Haemoglobin Barts: Usually fatal in utero or shortly after birth; survivors need lifelong transfusions.

Beta Thalassaemia : One Or Both Genes Affected

In beta thalassaemia, the two beta globin genes may be partially or completely defective:

One defective gene - Beta Thalassaemia Minor: Mild or no symptoms.

Two defective genes - Thalassaemia Intermedia: Moderate anaemia, possibly manageable without transfusions.

Beta Thalassaemia Major (Cooley's Anaemia): Severe anaemia from infancy, requiring lifelong transfusions.

Symptoms Across The Spectrum

Symptoms can range from non-existent to severely debilitating depending on the genetic anomaly. Common signs include:

Mild cases: Fatigue, slight pallor, occasional weakness.

Moderate cases: Bone deformities, delayed growth, spleen enlargement.

Severe cases: Poor feeding in infants, jaundice, dark urine, prominent facial features, and growth delays.

Left untreated, severe forms can result in serious complications, including osteoporosis, heart issues, and delayed puberty. Surgical interventions such as spleen removal may also be necessary.

Living With Thalassaemia : A Lifelong Journey

Modern medicine has improved the prognosis for many with severe thalassaemia. However, it remains a lifelong condition for those most severely affected. Regular blood transfusions, iron chelation therapy, and comprehensive medical support are crucial. Genetic counselling also plays a key role in prevention, especially in regions with higher carrier rates.

Why World Thalassaemia Day Matters

World Thalassaemia Day is about solidarity, understanding, and progress. It showcases that behind every diagnosis is a person navigating fatigue, hospital visits, and societal misunderstanding. It's also an invitation to advance awareness, screening programmes, and support networks for affected families.

Awareness, Action, And Hope

As we recognise World Thalassaemia Day 2025, we honour those living with the condition and those lost too soon. Thalassaemia may be genetic, but its future is not set in stone. With early diagnosis, informed choices, and consistent care, people with thalassaemia can lead fulfilling lives. Let this day be a prompt not just for empathy, but for education, advocacy, and a collective commitment to a healthier tomorrow.

Disclaimer: The information provided in this article is for general informational and educational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or a qualified healthcare provider with any questions you may have regarding a medical condition.