Thalassemia is a group of disorders that affect the blood. People with these conditions don’t have enough oxygen in their blood because their bodies are unable to produce a sufficient amount of the hemoglobin that red blood cells require. Depending on which genes have a mutation, Thalassemia are classified as alpha thalassemia or beta thalassemia.
This is a genetic condition. People have this problem if they inherit one or more faulty genes from their parents. It is known to run in families with Mediterranean, African, Asian and Middle Eastern backgrounds.
Some people receive affected genes from one parent, but they don’t get them from the other parent, so their symptoms are quite mild. This is known as thalassemia minor. Some people might not even be aware that they have thalassemia minor.
In thalassemia major, a patient receives affected genes from both parents, and the disease is more severe. The alpha version is called hemoglobin H disease, and the beta version is Cooley’s anemia. Beta thalassemia can also manifest as a moderate form called thalassemia intermedia.
These disorders can manifest with an array of symptoms, and most cases are diagnosed in childhood. However, those with minor cases may not have any cause to consider the possibility of this condition until they develop anemia problems.
Treatment can help alleviate some symptoms. Therefore, it is important to consult a doctor if you or a family member are experiencing signs of this condition. The following guide can help you know what symptoms to be on the lookout for.
1. Anemia
Because this group of disorders affects red blood cells, one of its most common symptoms is anemia. When there aren’t enough well-functioning red blood cells in the blood, the blood can’t transport a sufficient amount of oxygen to all parts of the body. This condition is known as anemia.
In fact, many of the symptoms associated with thalassemia can be tied back to the anemia caused by the disorder. Therefore, treatments for anemia are one of the main ways that doctors help patients with these blood disorders. When the anemia is lessened, the manifestation of other symptoms is often lessened as well.
There are a few different treatments available to help relieve a person’s anemia. Taking folic acid supplements is one option. This is usually best for those who experience moderate symptoms of the disease. If the disease is more severe, blood transfusions may be recommended. This is a process that must be repeated regularly, and additional precautions, such as vaccines to prevent hepatitis will be recommended.
Even people with minor versions of this blood disorder may experience a degree of anemia. The more severe the anemia is, the more likely it is that related symptoms will also have a profound effect on the patient’s life.
2. Fatigue
Your body’s systems require plenty of oxygen for proper functioning. Since people with this blood disorder have a reduced supply of oxygen in their blood, their systems have to make do with less of it than what they really need. For this reason, you might tire easily. You aren’t just sleepy. Rather, you may feel as if you are entirely out of energy. Even doing normal, everyday activities can feel overwhelming or exhausting.
Although thalassemia minor and the mild anemia that accompanies it might not cause such extreme fatigue, it can still cause you to be more tired than normal.
3. Paleness
Red blood cells lend color to your skin. If you don’t have enough healthy red blood cells, you might look pale or colorless. This can be an all-over paleness, but you might particularly notice it in a few key places. The small section of skin above your lower eyelashes should have pink tint; if yours lacks color, this can indicate a blood disorder. The beds of your nails are another good place to check whether your skin is abnormally short on color. Finally, you can also take a look at your palms to see if they lack a healthy tint.
4. Shortness of Breath
Just as being short on oxygen can leave you exhausted, it can also make it hard to breathe properly. Therefore, people with anemia often experience shortness of breath as a symptom. You may feel that it is hard to get enough air or take breaths quickly enough. You may also experience the feeling of being unable to catch your breath.
Everyone experiences shortness of breath sometimes, such as during exercise. Shortness of breath becomes a concern when it is a regular problem. You may notice that the problem becomes worse or causes you trouble even when you’re relaxing in a prone position.
5. Weakness
The exhaustion and lack of oxygen that accompanies thalassemia can make you feel unable to accomplish normal tasks. Doing anything that requires strength or exertion can be even more overwhelming. Your muscles simply might not have the oxygen that they require in order to lift heavy items or perform other jobs.
Sometimes, irritability is noted as a symptom of this blood disorder. In part, this can be related to the weakness and exhaustion that go along with it. When even normal tasks take all of your energy, it can be hard to put any energy toward relationships and positive interactions with other people.
6. Yellow Skin
Caused by thalassemia or other diseases, jaundice is a medical condition in which your body has a yellow tint to it. You may be able to observe this yellow color in both your skin and your eyes.
People with thalassemia may experience yellow skin because their red blood cells are not healthy and may break down easily. When an excessive amount of red blood cells break down, they fill the blood supply with a large amount of hemoglobin. The hemoglobin then breaks down further, and this causes bilirubin to accumulate. Bilirubin is the substance that gives skin its yellow tint in patients with jaundice.
7. Slow Growth
Thalassemia can keep you from keeping up with others of your age in height and weight. During infancy, children with thalassemia may be diagnosed with failure to thrive. This means that you are not growing in height or gaining weight as quickly as you should be during this critical time of life. Later in life, the disorder can also cause you to start puberty late.
In addition to causing slow growth, this condition can make you grow differently. It may make your stomach stick out abnormally. The disorder can cause your bones to become misshapen; the bones of your face are most likely to be affected.