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If your child has been diagnosed with thalassemia, you’ll be worried sick to death. The name itself sounds terrifying and the only thought you will have is if this condition can be treated or not. There are millions of people around the world affected by this condition. Since it is a genetic disorder, it cannot be prevented. However, you must not worry as we will tell you everything you need to know about it, including treatment options.
What is Thalassemia?
Thalassemia is a genetic blood disorder that leads to insufficient production of haemoglobin in the body. Thalassemia is an inherited disorder, a type of anaemia that affects particularly children of Asian, African and Mediterranean descent. When the red blood cells in your body do not produce enough haemoglobin due to thalassemia, oxygen supply is also affected. As the body’s red blood cells are affected, it leads to anaemia in children.
Types of Thalassemia
Understand the different types of thalassemia that could affect your children.
1. Alpha Thalassemia
The first type of Thalassemia is Alpha Thalassemia. In this condition, the haemoglobin does not produce the alpha protein in ample amounts. To make alpha-globin protein, four genes are required. A molecule comprises four globin chains – 2 alpha-globins and 2 non-alpha globins. Adults usually carry either two alpha globins and two beta globins. Two genes are received from each parent. However, if one or more of these genes are not present, it may lead to alpha thalassemia in a child.
2. Beta Thalassemia
Beta thalassemia in children happens when their body is unable to produce beta globin chains. Two beta-globin genes are required to make beta globin chains, one from each parent; however, if these genes are faulty beta thalassemia may occur. Its severity depends on the number of genes mutated – thalassemia minor and thalassemia major.
- Thalassemia Minor: When one of the two beta globin chains is missing or abnormal, thalassemia minor occurs. A mild case of anaemia, thalassemia minor is not a serious condition, however, it does require treatment. Misdiagnosis is common in the case of thalassemia minor where iron-deficiency related anaemia is concerned. A person’s cell volume test and screening is a simple way to check for thalassemia minor which is done during prenatal diagnostics.
- Thalassemia Major: When both the beta-globin chains in blood are missing, it is a case of thalassemia major. It is a serious condition which calls for immediate treatment and may often go undetected in children during the first two years of their lives. At first, they may appear normal and healthy but as they age, deformities in facial bones and lack of haemoglobin production in the bone marrow lead to its enlargement. The spleen gets enlarged too due to continual stress as a result of abnormal blood cell removal from the body.
What Causes Thalassemia in Children?
Thalassemia happens when there are genetic abnormalities causing a lack of production of haemoglobin in the body. Causes of thalassemia in children are classified according to their types.
Causes of Alpha Thalassemia
The causes of Alpha Thalassemia are as follows:
- Genetic inheritance
- Lack of haemoglobin in RBCs (Red Blood Cells)
- Rare medical circumstances
- Deletions of Chromosome 16p
Causes of Beta Thalassemia
The causes of Beta Thalassemia are:
- Lack of presence of the beta-globin chains, which is known as ‘Beta-Zero (B0) Thalassemia.’
- When there is haemoglobin production, but in insufficient amounts.
- Some parents carry only one version of the mutated gene, but parents of children with thalassemia major may carry both versions of the mutated gene to exhibit severe symptoms of anaemia.
What Are the Symptoms of Thalassemia in Kids?
The symptoms of thalassemia in kids are almost similar in both alpha and beta thalassemia. The key difference is the severity of symptoms exhibited.
Symptoms of Alpha Thalassemia
The symptoms of Alpha Thalassemia in children are as follows:
- Stunted growth
- Deformities in facial bones
- Enlargement of the spleen
- Yellowish skin
- Swelling in the abdominal region
- Dark urine
- Light-headedness and dizziness
- Heart failure
- Pale skin, lips, and nails
Symptoms of Beta Thalassemia
The symptoms of Beta Thalassemia in kids are similar to that of Alpha Thalassemia and are as follows-
- Reduced appetite
- Picky eating
- Dark urine
- Deformities in facial structures
How is Thalassemia Diagnosed?
Thalassemia is diagnosed through blood tests and DNA analysis. Genetic counselling is recommended for couples who plan on having children.
Diagnosis of Alpha Thalassemia
Diagnosis of alpha thalassemia is done in the following ways:
- A blood test is done.
- Through newborn screening of the spleen and abdomen.
- Chorionic Villus Sampling – It is done around 11 weeks into pregnancy where a small piece of the placenta is removed for testing.
- Amniocentesis – In this, a sample of the amniotic fluid is taken for testing around 16 weeks of pregnancy.
Diagnosis of Beta Thalassemia
Diagnosis of beta thalassemia is done in the following ways-
- A blood test is done that involves complete blood cell count (CBC).
- Blood smear.
- Iron testing.
- Hemoglobinopathy evaluation.
Complications of Thalassemia in a Child
Thalassemia complications are similar for alpha and beta thalassemia. The complications of alpha and beta thalassemia in children include:
Excess Iron – Too much iron may affect the heart, liver and endocrine system in kids. Problems from iron overload can lead to conditions like hypothyroidism, liver fibrosis, hypoparathyroidism, etc.
Bone deformities – Bone marrow expands and bones become wider, thinner, and brittle. Some bones may even break down due to abnormal bone structure, especially in the face and skull.
Enlarged Spleen – Makes anaemia worse and the body is unable to prevent infections as the spleen that helps us fight infections becomes weak and vulnerable.
Infections – Removing the enlarged spleen may lead to infections. The spleen is normally responsible for warding off infections. Thus, the risk of infections becomes higher once the spleen is removed.
Slow Growth Rates – Delayed puberty and stunted growth in children.
Treatment for Thalassemia
Treatment of thalassemia in children usually follows after extensive blood tests. There is no treatment required for thalassemia minor, however, thalassemia major requires recurrent blood transfusions. The problem with recurrent blood transfusions is that there may be an iron overload in the body and that is usually taken care of through medications for eliminating the excess iron content.
Treatment for Alpha and Beta Thalassemia
Treatment options for alpha and beta thalassemia in babies are-
- Folic acid supplements
- Blood transfusion followed up by iron chelation therapy
- Bone Marrow Transplant (requires a compatible donor)
No treatment is required for mild cases.
Can Thalassemia Be Prevented?
Getting tested to check whether couples are recessive trait carriers is the first step towards prevention of passing on this disorder. Couples must go through prenatal screening and haemoglobin evaluations to assess their risk of bearing children with blood-based genetic defects. Getting tested is the road to thalassemia prevention.
When to See a Doctor?
If you have a family history of thalassemia, you have to get your child’s blood tests done at the clinic. Any signs of anaemia are a red flag as well.
Although bone marrow transplant is the only treatment option currently available in the medical community for thalassemia treatment, it is safe to say that with a bit of genetic counselling and being aware of your partner’s blood profile, you will be able to reduce the risk of future cases by educating yourself and taking the appropriate measures. Most important of all, lead a healthy and active lifestyle and get your nutrition in order to keep yourself and your kids safe.