Seeing your baby looking pale, tired or less active than usual can be deeply worrying. While mild anaemia is common, some cases may point to something more serious. When a child under two years of age shows signs of severe anaemia, consider thalassemia as a possible underlying condition that needs attention. Understanding the warning signs early can help parents seek the right care and ensure their child gets the support they need as soon as possible.
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Thalassemia is an inherited disorder. This means that it is passed from parent to child. In mild cases, a sufferer may just feel tired and appear pale. This is much like someone suffering from anaemia. In moderate to severe cases, it can cause a lot of harm to the sufferer. A person with Thalassemia can’t produce enough functioning haemoglobin. This is an iron-rich protein in your red blood cells. It plays a critical role in carrying oxygen from the lungs to the rest of the body. Without enough oxygen, our bodies can’t function as they should.
Some interesting background
One of the reasons I went into medicine was my fascination with the human body, its ability to adapt and survive when all the odds of nature appear stacked against it. The body finds ways to deal with disease, compensate for loss or injury and adapt to new circumstances. I think of an individual who loses their sense of sight. The other senses heighten and the person finds ways to cope. When one kidney is lost, the other takes over a much bigger role. When new strains of illnesses make their appearance, our immune system learns new ways to fight. It is remarkable.
As South Africans, we know full well about Malaria, its risks and its potential to cause serious illness and death. In regions where malaria was endemic, such as parts of Africa, the Mediterranean basin, Southeast Asia and the Middle East, the human body started to adapt. Without going into too much detail, children living in these areas were far more likely to survive malaria if they had Thalassemia. They grew up and passed this on to their children. The Thalassemia protected the population from severe malaria. The flip side is that Thalassemia can also be harmful. Children with moderate to severe Thalassemia require lifelong medical treatment.
We see a far greater number of people suffering from Thalassemia if they historically originated in the malaria areas, namely:
- African/African American
- Mediterranean: Italians, Greeks, Cypriots
- Southeast Asian: Thai, Vietnamese, Cambodian, Malaysian
- Middle Eastern: Saudi Arabian, Iranian, Iraqi, Lebanese
- India – especially Northern/Western India
Let’s take a look at how a child may present
Dante is 9 months old. His parents are concerned that he has been suffering from recurrent infections that usually require antibiotic treatment. His parents are also concerned that the recurrent illnesses are affecting his energy levels, as he appears way less active and alert than other babies of the same age.
Dante is noted to weigh less than expected for his age. His mother reports that food has been a struggle since they introduced solids. His skin is pale and his abdomen is a little swollen. On examination, it is possible to feel an enlarged spleen.
Discussion with the parents:
Doctor: Does the name Dante have Italian origins?
Parents: Yes, both sets of grandparents are Italian. We were born in South Africa.
Doctor: Given Dante’s heritage, the recurrent illnesses, his pale skin and his enlarged spleen, I am concerned that he may be suffering from a condition known as Thalassemia. We need to run some blood tests to confirm this.
Parents: As far as we know, Thalassemia is an inherited disease. Neither of us has ever been ill in the way that Dante is.
Doctor: It could be that both of you are carriers of Thalassemia. If you are missing one Alpha gene, you won’t have symptoms. It is even possible to be missing two Alpha genes and one Beta gene without symptoms. This could have gone unnoticed or may have caused mild anaemia and fatigue, but nothing more. Now that you have had a child, he could have inherited missing genes from you both, making his symptoms way worse.
Parents: That sounds complicated.
Doctor: Do you remember we spoke about haemoglobin? Haemoglobin is made up of Alpha and Beta chains. Alpha chains consist of 4 genes. You get two from each parent. Beta chains consist of two genes. You get one from each parent. Their job is to make haemoglobin. If you, as parents, are missing any genes, you can’t pass the correct amount onto your child. This would cause Thalassemia.
There are different ways in which these chains can get mixed up and this will affect the type of Thalassemia a person has.
Parents: Why would this make him have recurrent infections?
Doctor: The recurrent infections could be a combination of factors. Thalassemia causes anaemia (hence his pale skin), it lowers the immune system and without a fully functioning spleen, Dante wouldn’t fight bacterial infections as well as other children. He may also have too much iron in his blood and tissues. Bacteria love to grow in this environment.
Parents: Can you explain the anaemia?
Doctor: Thalassemia makes it difficult for the body to produce enough healthy haemoglobin (red blood cells). Without the correct number of healthy red cells, oxygen doesn’t flow around the body as well as it should, so the sufferer may have a pale face, lips and under the eyelids.
Parents: What happens now, doctor?
Doctor: I would recommend that you take Dante to the laboratory for blood tests. I will order:
- An FBC (FULL BLOOD COUNT). This will allow me to see if he has too many or too few cells.
- Iron studies are important to see if we are dealing with Thalassemia or just an iron deficiency.
- Haemoglobin Electrophoresis to look at the number of different types of haemoglobin and to show any imbalances.
Parents: Is all of this really necessary?
Doctor: In mild cases, a child will struggle with anaemia, but in moderate cases, a child could suffer from an enlarged spleen, growth problems, weak bones and later on, delayed puberty. Severe symptoms would be more dangerous. You wouldn’t want this to go undiagnosed and untreated.
Parents: What does the treatment involve?
Doctor: The treatment will depend on what we find. Mild cases don’t need treatment. Moderate to severe cases would need:
- Blood transfusions- The number of transfusions and when they are done will depend on the severity of the illness.
- Chelation therapy- If a child needs regular transfusions, iron can build up in the body. Too much iron can also be harmful. This therapy helps to remove the excess iron.
- Folic acid- This is part of the Vitamin B family. Its job is to make healthy red cells and is very useful for anyone with Thalassemia.
Parents: Wow, this is a lot to take in all at once.
Doctor: Let’s take it one step at a time. I gave you a lot of information. Take Dante for the blood tests and we can make our decisions based on what we find. Together, we will figure out the best course of action to get Dante healthy.
Conclusion
A diagnosis such as Thalassemia can be overwhelming for parents. It is really important to make a diagnosis so that your child can receive the correct treatment. A child who receives the correct treatment can usually live a relatively normal life. Your healthcare provider will guide you through the process.
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