Hemoglobin Electrophoresis: A Vital Test for Thalassaemia Screening

Thalassaemia is one of the most common inherited blood disorders in India, with over 10,000 children born each year with the severe form of the disease, according to the Indian Council of Medical Research (ICMR). Despite its high prevalence, many individuals remain unaware they are carriers until a child is diagnosed. Red blood cells require a protein called haemoglobin to carry oxygen. When haemoglobin takes an abnormal form, the condition is known as thalassaemia.

In this article, we cover the thalassaemia test, how it is conducted, and how to interpret the results.

What Are the Different Types of Thalassaemia?

Thalassaemia is classified into two types based on which haemoglobin chain is affected:

1. Alpha-thalassaemia
   This occurs when mutations affect the genes responsible for producing part of haemoglobin. A person inherits four of these genes, two from each parent. If one or two genes are mutated, the individual may be a silent carrier or have mild anaemia. Three mutated genes cause moderate to severe anaemia, while mutations in all four genes usually result in a fatal condition (alpha-thalassaemia major).
2. Beta-thalassaemia
   This is caused by mutations in the beta-globin genes. Inheriting one mutated gene results in thalassaemia minor (also known as the beta-thalassaemia trait), which usually presents with mild or no symptoms. Two mutated genes lead to thalassaemia major (Cooley’s anaemia), a severe form that appears in early childhood. Thalassaemia intermedia is a milder form where both genes are affected, but some beta chains still function.

What Are the Symptoms That Indicate the Possibility of Thalassaemia? 

Symptoms vary depending on the type and severity of thalassaemia. According to the Mayo Clinic, people with thalassaemia minor often show no symptoms or only mild anaemia. Common signs include:

● Low red blood cell count
● Frequent tiredness
● Weakness
● Jaundice
● Changes in bone structure
● Slow growth
● Delayed puberty

As these symptoms overlap with other conditions, several tests are required to confirm thalassaemia—one of which is the haemoglobin electrophoresis test.

How Is Thalassaemia Diagnosed? 

Diagnosis begins with basic blood tests. A complete blood count (CBC) can reveal anaemia, while low indices like MCV and MCH may indicate thalassaemia. A blood smear might show abnormal red blood cell shapes (poikilocytes). If suspected, the definitive diagnostic method is haemoglobin electrophoresis.

What Is the Hb Electrophoresis Test? 

The haemoglobin electrophoresis test detects thalassaemia by separating different types of haemoglobin based on their electrical charge. Here’s how it works:

● Blood is drawn from the arm or finger and sent to a lab.
● The blood sample is placed on a strip, and an electric current is applied. Different haemoglobins, due to their charges, form distinct bands.
● The results show the percentage of each haemoglobin type. Deviations from the normal range may indicate a disorder.

How to Interpret Haemoglobin Electrophoresis Test Results

Below is a simplified table to interpret the results:

How Can Thalassaemia Be Prevented?

Individuals with thalassaemia minor are advised to take folic acid supplements and follow a healthy lifestyle. Those diagnosed with thalassaemia major generally require regular blood transfusions to maintain safe haemoglobin levels.

Thalassaemia continues to be a major public health challenge in India; however, early detection can significantly improve outcomes. The haemoglobin electrophoresis test is essential for identifying carriers and diagnosing the condition before symptoms worsen. With increased awareness, regular screening—particularly before marriage or pregnancy—and timely medical intervention, individuals with thalassaemia minor can lead healthy and fulfilling lives.

Download the Dr. Lal Path Lab’s app to get tests done.

FAQs 

1. Is thalassaemia a chronic disease?
   Thalassaemia is classified as a chronic condition. It is a lifelong disorder that requires continuous monitoring and treatment, especially in more severe cases.
2. How is thalassaemia confirmed?
   Diagnosis of thalassaemia is typically confirmed through haemoglobin electrophoresis for beta-thalassaemia, and genetic testing for alpha-thalassaemia.
3. What are the key signs of thalassaemia?
   Symptoms differ based on the type and severity, but commonly include anaemia, fatigue, pale skin, and in severe cases, bone deformities, delayed growth, and organ enlargement.