Feeling tired or weak? It may be due to alpha thalassemia

Feeling tired and weak all the time and having pale or yellowish skin may be connected to your genes. Alpha thalassemia is an inherited blood disorder in which specific gene mutations that get passed down from parents come in the way of the production of hemoglobin. Found in the red blood cells, it is a very important protein that transports oxygen to different parts of the body. On the occasion of this World Thalassemia Day, know what can happen if the production of hemoglobin gets reduced and what you can do about it.

What is alpha thalassemia?

It is a genetic blood disorder that affects the production of hemoglobin, which is made of two types of protein chains — alpha globin and beta globin. “A person normally inherits four alpha globin genes, two from each parent. These genes are responsible for producing alpha globin chains,” explains hematologist Dr Vijay Ramanan.

In alpha thalassemia, one or more of these genes are missing or faulty, leading to reduced production of alpha globin. “This creates an imbalance in the hemoglobin structure, making red blood cells less effective at transporting oxygen,” says the expert. So, you may develop anemia, which can range from mild to severe depending on how many genes are affected. This disorder is more common in individuals from Greece, Turkey, Africa, the Middle East and Asia, as per the US Centers for Disease Control and Prevention.

What are the symptoms of alpha thalassemia?

The symptoms of alpha thalassemia depend on how many genes are affected and how much alpha globin is being produced.

• Silent carrier (one gene defect): These people are usually completely asymptomatic, so they do not show signs of anemia and their red blood cell count is typically normal. “They only learn about their carrier status during routine genetic screening or if they have a child diagnosed with thalassemia,” says the expert
• Alpha thalassemia trait (two gene defects): Some people with this form may experience very mild anemia, but most do not have any noticeable symptoms. Their blood tests may show small red blood cells and slightly reduced hemoglobin levels. This condition is often mistaken for iron-deficiency anemia.
• Hemoglobin H disease (three gene defects): This form presents with moderate to severe anemia. “Symptoms often include chronic tiredness or fatigue, weakness, pale or yellowish skin due to jaundice, dark-coloured urine,” says Dr Ramanan. In the case of children, they may show delayed growth and development.
• Hydrops fetalis (four gene defects): This is the most severe form of alpha thalassemia. Without alpha globin, hemoglobin cannot carry oxygen. “The baby develops severe anemia, leading to heart failure, fluid accumulation, and typically death before or shortly after birth,” says the expert.

How is alpha thalassemia diagnosed?

It can be easily confused with iron deficiency anemia, so diagnostic tests like complete blood count (CBC) may help identify the disorder, as per research published in StatPearls. However, CBC alone cannot confirm alpha thalassemia. More specialised tests like the following are needed:

• Hemoglobin electrophoresis is often used to identify abnormal types of hemoglobin. However, in alpha thalassemia, especially the silent or trait forms, this test may appear normal, making it less reliable.
• The definitive diagnosis is made through genetic testing. Two important genetic tests are:

-Next-Generation Sequencing, which identifies mutations in the gene.
-Multiplex Ligation-dependent Probe Amplification, which detects deletions or duplications in gene copies

“These tests are particularly important in prenatal screening, family planning, and while trying to distinguish alpha thalassemia from iron deficiency anemia,” says the expert.

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Alpha thalassemia vs beta thalassemia

Both are forms of thalassemia, but they affect different parts of the hemoglobin molecule. Alpha thalassemia results from defective alpha globin genes, while beta thalassemia involves mutations in beta globin genes.

“Beta thalassemia major, also known as Cooley’s anemia, is often more severe and typically diagnosed in infancy. It usually requires regular blood transfusions for life, along with iron chelation therapy to manage iron overload,” says the expert.

In contrast, many people with alpha thalassemia, particularly the silent carrier and trait forms, lead normal lives with minimal or no medical intervention.

How is alpha thalassemia treated?

Here are some of the common treatments:

1. Regular folic acid supplements

Folic acid is a type of vitamin B that helps your body produce healthy red blood cells. “People with HbH disease have a higher turnover of red blood cells, which means the body is constantly trying to make more to compensate for the anemia, so folic acid is essential,” says the expert. It supports the bone marrow in producing new red blood cells and can help reduce fatigue and other symptoms of anemia. Up to 5 mg per day of supplementary folic acid is safe, according to research published in Blood Reviews.

2. Occasional blood transfusions

Some people with HbH disease may experience episodes of severe anemia, especially during times of illness, infection, or physical stress like surgery or pregnancy. In such cases, blood transfusions are needed to quickly increase the number of healthy red blood cells and improve oxygen delivery throughout the body. “Transfusions are given only when necessary, such as when hemoglobin levels fall too low, the person becomes very tired, breathless, or pale,” says the expert.

3. Monitoring for iron overload

One potential side effect of frequently getting blood transfusions is iron overload. Every unit of blood contains iron, and the body has no natural way to get rid of excess iron. Over time, too much iron can accumulate in organs like the liver, heart, and pancreas, leading to complications such as liver damage, diabetes, or heart problems. To manage this, doctors may regularly monitor serum ferritin levels, a measure of iron stores. “If iron overload is detected, you may be prescribed iron chelation therapy, oral or injectable medicines that bind to excess iron and help remove it from the body,” says Dr Ramanan.

Alpha thalassemia is an inherited condition, which means it is passed down from parents to their children. Each parent contributes two alpha globin genes to their child. If one or both parents carry mutations in these genes, there is a chance their child could inherit a faulty gene or even a more serious form of the condition. Most people with alpha thalassemia, especially silent carriers and those with the trait,live completely normal, healthy lives. Those with Hemoglobin H disease can manage well with proper treatment and regular medical follow-up.

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