Thalassemia Symptoms: Early Signs of Inherited Blood Disorders

Thalassemia Symptoms: What to Know About This Inherited Condition

Thalassaemia is an inherited blood disorder that affects the body’s ability to produce haemoglobin, leading to anaemia. Symptoms can range from mild fatigue and weakness to severe complications like bone deformities, delayed growth, and organ damage. Early detection is crucial for effective management. Understanding thalassaemia symptoms helps in timely diagnosis, improving quality of life and treatment outcomes.

Thalassaemia is a genetic disorder that affects haemoglobin synthesis—the process involving the coordination of heme and globin components. This results in the production of defective red blood cells (RBCs), reducing haemoglobin levels, shortening RBC lifespan, and impairing their oxygen-carrying capacity.

In India, thalassaemia is a major health concern, impacting around 10,000 to 15,000 newborns with symptoms annually. In this blog, we will discuss the thalassaemia symptoms, types, diagnosis, treatment and more.

What are the symptoms of thalassaemia?

The severity of thalassaemia symptoms depends on its type. They might vary depending on the severity of several abnormal genes inherited:

1. Asymptomatic

When one or two alpha genes or a single beta gene are missing or altered, thalassaemia may present with no noticeable symptoms. In such cases, individuals might only experience mild anaemia-related signs like fatigue or weakness. For infants, early symptoms typically become apparent only after six months of age.

2. Mild to Moderate Symptoms

Individuals with mild to moderate thalassaemia, particularly beta thalassaemia intermedia, may occasionally need blood transfusions. The condition can cause a range of symptoms, including:

• Persistent fatigue
• Mild anaemia
• Slowed physical growth
• Delayed onset of puberty
• Bone issues such as osteoporosis
• Enlargement of the spleen (splenomegaly) due to increased workload
   

3. Severe Symptoms

Severe thalassaemia symptoms in adults can result in chronic, lifelong anaemia, especially when three alpha genes are missing. Similarly, beta thalassaemia majorly causes pronounced and easily detectable symptoms. These symptoms often mirror those seen in mild to moderate anaemia, but with greater intensity.

• Decreased appetite and noticeable weight loss
• The probability of jaundice leading to a pale yellowish skin tone
• The colour of urine is dark or tea-coloured.
• Irregular bone structure of the face
   

What are the Types of Thalassaemia?
 

Thalassaemia is categorised into four types: trait, minor, intermedia, and major, depending on the severity of the condition. Individuals with the thalassaemia trait typically show mild or no symptoms and usually do not need treatment. Thalassaemia major, the most severe form, requires lifelong treatment. It is estimated that over 100,000 patients in India are living with thalassemia major, with thousands of new cases diagnosed annually.

Haemoglobin’s molecular structure consists of two pairs of globin chains: alpha-globin and beta-globin. The two main types of thalassaemia are classified based on these globin components:

1. Alpha Thalassaemia: Alpha globin protein chains are produced using four genes—two inherited from each parent. When one or more of these genes are abnormal or missing, alpha thalassaemia develops. The severity of the condition depends on how many genes are affected.
   
   If only one gene is defective or missing, the individual typically shows no noticeable symptoms, a condition known as alpha thalassaemia minima. When two genes are affected, mild anaemia may occur, referred to as alpha thalassaemia minor. If three genes are abnormal, symptoms become moderate to severe, including significant anaemia and related health concerns.
    
2. Beta Thalassaemia: Beta globin chains are formed using two genes, one inherited from each parent. The severity of beta thalassaemia is determined by how many of these genes are mutated and the extent of the defect.
   
   If one beta gene is abnormal or missing, the person is said to have beta thalassaemia minor, which typically results in mild anaemia with few symptoms. When both genes are defective, the individual may experience moderate to severe anaemia.

In less severe cases, this is classified as thalassaemia intermedia. When symptoms are more pronounced and both genes are severely mutated, it is known as beta thalassaemia major, the most serious form requiring ongoing medical care.

How Does Thalassaemia Affect One's Body?

Thalassaemia can cause both mild and severe anaemia, often leading to additional complications over time. A person who carries one mutated gene for beta-thalassemia or two for alpha-thalassemia is said to have the thalassemia trait (or thalassemia minor). These individuals are typically asymptomatic or have very mild anaemia and are generally healthy, but they can pass the gene to their children.

This condition arises when certain genes responsible for haemoglobin production are missing or mutated. As a result, symptoms such as fatigue, shortness of breath, chills, dizziness, and pale skin may occur. The severity of these symptoms depends on the number and type of affected genes.

What is the diagnosis procedure for thalassaemia?

Moderate to severe thalassaemia symptoms are often identified within the first two years of a child’s life. Diagnosing thalassaemia involves a combination of medical history, physical examination, and specialised tests. Below are some key diagnostic methods used to detect this condition:

1. Complete Blood Count (CBC): This test measures haemoglobin levels and the size and number of red blood cells (RBCs). Individuals with thalassaemia typically have fewer healthy RBCs, lower haemoglobin levels, and smaller-than-normal RBCs. CBC results are usually available within 1–2 days and provide an initial indication of anaemia severity.
2. Haemoglobin Typing (Hb Typing): Haemoglobin typing helps determine the type and quality of haemoglobin present in red blood cells. It is crucial for identifying thalassaemia carriers and categorising the condition into its various types. This test plays a significant role in distinguishing between alpha and beta thalassaemia variants.
3. DNA Testing: Used primarily in prenatal diagnosis, DNA testing examines a patient’s genetic material to identify mutations in all 23 chromosome pairs. It can confirm whether a person carries a thalassaemia gene and detect the specific genetic defect involved. DNA test results typically take between 4 days and 1.5 weeks.
4. Non-Invasive Prenatal Testing (NIPT): NIPT is a prenatal screening test that analyses foetal DNA fragments present in maternal blood. It evaluates the risk of chromosomal abnormalities such as thalassaemia or Down syndrome in the foetus. Results for NIPT are generally available within 3 to 7 working days and help guide early medical decisions.
    

These tests, when interpreted together, provide a comprehensive understanding of the presence, type, and severity of thalassaemia, enabling timely and effective management.

What is the treatment for thalassaemia?

Your medical professional will assist you with the appropriate treatment procedure after analysing the type and severity of your condition. Let us understand the different treatment procedures:

• Blood Transfusion: This treatment plan is applicable for severe thalassaemia patients who require regular blood transfusions to reinitiate healthy RBCs. In the case of young children, they might have to undergo this treatment every 1-2 months to promote normal growth and development.
• Iron Chelation: It is a therapy that one has to undergo in addition to a blood transfusion. It removes the excessive iron in the blood, causing harm to other organs. In iron chelation, medical professionals prescribe to protect the organs from excess iron deposits.
• Folic Acid Supplements: These are oral medications which help stimulate the production of newer, healthier red blood cells. It is most suitable for patients suffering from mild anaemia.
• Splenectomy: Medical professionals may recommend surgical removal of the spleen (splenectomy) if it becomes abnormally enlarged or if the patient requires frequent blood transfusions. This procedure may also be necessary in cases of severe anaemia or persistently low blood cell counts due to complications from thalassaemia.
• Bone Marrow Transplant or Stem Cell Transplantation: A hematopoietic stem cell transplant (also known as a bone marrow transplant) is currently the only curative option for thalassemia. However, it is a high-risk procedure that requires a well-matched donor and is typically considered for young children with severe disease. For most patients, treatment involves regular blood transfusions and iron chelation therapy. Medical professionals replace defective bone marrow stem cells with healthy umbilical stem cells to promote the production of normal blood cells.

Final Words

Thalassaemia symptoms cannot be prevented, as it is an inherited blood disorder. However, genetic testing for you and your partner can help determine if either of you carries the mutated gene. This information is valuable for informed family planning. If there is any suspicion of carrying the thalassaemia gene, consult a genetic counsellor for guidance.