According to research, about 5% of the world population are either silent carriers of Thalassemia and are asymptomatic. 1.7% of the world however shows visible symptoms of this gene mutation. It is a condition that not many are familiar with, which is why some of followers have broken it down for us. Scroll down to find out everything you need to know to understand Thalassemia:
What Is Thalassemia?
Thalassemia is an inherited blood disorder in which the body makes an abnormal form or inadequate amount of haemoglobin – the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which in turn leads to anaemia.
Haemoglobin is made of two proteins: alpha-globin and beta-globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.
Thalassemia And Anemia
Thalassemia can quickly lead to anaemia. This condition is marked by a lack of oxygen being transported to the tissues and organs. Since red blood cells are responsible for delivering oxygen, a reduced number of these cells means you don’t have enough oxygen in the body either.
The anaemia however may be mild to severe. Symptoms of anaemia include:
- shortness of breath
Anaemia can also cause you to pass out. Severe cases can lead to widespread organ damage, which can be fatal.
Thalassemia And Genetics
Thalassemia is genetic in nature. To develop full thalassemia, both of your parents must be carriers of the disease. As a result, you will have two mutated genes. It’s important to get tested if one of your parents or a relative has some form of the disease.
The Two Types:
- Alpha thalassemia occurs when a gene (or genes) related to the alpha-globin protein are missing or changed (mutated).
- Beta thalassemia occurs when similar gene defects affect production of the beta-globin protein.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
- Thalassemia major: You must inherit the gene defect from both parents to develop thalassemia major. Beta thalassemia major is also called Cooley Anaemia.
- Thalassemia minor: This occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.
Thalassemia major is the most severe form of beta thalassemia. It develops when beta-globin genes are missing. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe form of anaemia related to this condition can be life-threatening. Other signs and symptoms include:
- frequent infections
- a poor appetite
- failure to thrive
- jaundice, which is a yellowing of the skin or the whites of the eyes
- enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.
In alpha minor cases, two genes are missing. In beta minor, one gene is missing. People with thalassemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anemia. The condition is classified as either alpha or beta thalassemia minor. Even if thalassemia minor doesn’t cause any noticeable symptoms, you can still be a carrier for the disease. This means that if you have children, they could develop some form of the gene mutation.
Thalassemia In Children
Of all the babies born with thalassemia each year, it’s estimated that 100,000 are born with severe forms worldwide. Children can start exhibiting symptoms of thalassemia during their first two years of life. Some of the most noticeable signs include:
- pale skin
- poor appetite
- slow growth
It’s important to diagnose thalassemia quickly in children. If you or your child’s other parent are carriers, you should have testing done early. When left untreated, this condition can lead to problems in the liver, heart, and spleen. Infections and heart failure are the most common life-threatening complications of thalassemia in children. Like adults, children with severe thalassemia need frequent blood transfusions to get rid of excess iron in the body.
Diet For Thalassemia
A low-fat, plant-based diet is the best choice for most people, including those with thalassemia. However, you may need to limit iron-rich foods if you already have high iron levels in your blood. Fish and meats are rich in iron, so you may need to limit these in your diet. You may also consider avoiding fortified cereals, breads, and juices. They contain high iron levels too. There’s no one diet that can cure thalassemia, but making sure you eat the right foods can help.
How Does Thalassemia Affect Pregnancy?
Thalassemia brings up different concerns related to pregnancy. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties. To ensure the health of both you and your baby, it’s important to plan ahead of time as much as possible. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible. Prenatal testing for thalassemia may be done at 11 and 16 weeks. This is done by taking fluid samples from either the placenta or the fetus, respectively.
Pregnancy carries the following risk factors in women with thalassemia:
- a higher risk for infections
- gestational diabetes
- heart problems
- hypothyroidism, or low thyroid
- increased number of blood transfusions
- low bone density