Thalassemia disease is an inherited blood disorder that involves the reduced or absent synthesis of haemoglobin. This condition can result in severe anaemia which in turn has numerous health complications. It is, therefore, important to have knowledge about the thalassemia symptoms to enable one to identify, manage, and enhance the quality of life of affected people.
Understanding Thalassemia Meaning
Thalassemia meaning can be described as a group of hereditary conditions characterised by abnormally low levels of haemoglobin. Haemoglobin is used in the transportation of oxygen from the lungs to the other parts of the body and, in return, carries carbon dioxide to the lungs for exhalation. In thalassemia, the haemoglobin molecules are either deficient or abnormal and this results in a shortage of red blood cells, a condition referred to as anaemia. Thalassemia disease needs to be managed throughout life in order to prevent complications.
Thalassemia Symptoms
The thalassemia symptoms depend on the degree of the disease and the thalassemia types present. Common symptoms include:
Fatigue and Weakness:
Because of anaemia, people with thalassemia easily get tired and feel weak because their body tissues are not getting enough oxygen.
Pale or Yellowish Skin:
If the body does not produce healthy red blood cells, the skin may turn pale or yellowish, which is known as jaundice.
Facial Bone Deformities:
In severe cases, the bone marrow becomes overactive in the production of red blood cells and this causes abnormal growth and deformities especially of the facial bones.
Slow Growth and Delayed Puberty:
Sometimes thalassemia causes growth and developmental problems, and children and adolescents with thalassemia have delayed puberty
Dark Urine:
One of the thalassemia symptoms that is associated with jaundice is the dark coloration of the urine as a result of the breakdown of red blood cells.
Shortness of Breath:
Since red blood cells contain haemoglobin and are involved in the transport of oxygen, lack of them will cause breathing difficulties particularly when one is involved in some form of physical activity.
Enlarged Spleen (Splenomegaly):
This is because the spleen has to filter more blood to get rid of the defective red blood cells, which causes discomfort or pain in the left upper abdomen.
Heart Problems:
Long-term effects of severe anaemia include heart failure and arrhythmias because the heart has to work harder and pump oxygen-deficient blood.
Bone Problems:
It can also cause brittle bones and osteoporosis due to the excessive activity of bone marrow.
Thalassemia Causes
Thalassemia causes are genetic in origin. The disorder is inherited from parents through genes that have been mutated and affect the production of haemoglobin. When both parents are carriers of the thalassemia gene, there is a greater likelihood that the child will be born with the thalassemia disease. It is more common in people of Mediterranean, African or Southeast Asian origin but can affect any individual.
Thalassemia Types
Thalassemia disease is classified into two main types:
- Alpha Thalassemia, which results from the body’s inability to produce alpha-globin.
- Beta Thalassemia, which results from insufficient production of beta-globin.
Thalassemia Treatment
The management depends on thalassemia types and the severity of the condition. The main objective is to minimise thalassemia symptoms and avoid adverse effects. Patients with mild thalassemia traits, in most cases, don’t get recommended for comprehensive treatment. However, thalassemia treatment options are recommended for those who have a moderate-to-severe level; treatment options include:
Blood Transfusions:
Many patients with severe thalassemia require frequent blood transfusions to maintain their haemoglobin levels at safe levels. However, frequent transfusions can cause iron overload, which has to be well monitored.
Iron Chelation Therapy:
Because blood transfusion leads to the accumulation of iron in the body, iron chelation therapy is used to reduce iron levels and minimise the effects on organs.
Folic Acid Supplements:
Folic acid is usually recommended in cases of low red blood cell count.
Bone Marrow or Stem Cell Transplant:
Sometimes, a bone marrow or stem cell transplant from a compatible donor can be a thalassemia treatment. This procedure is most effective in children with severe thalassemia and is usually done when other options cannot be used.
Gene Therapy:
There is active research in the development of gene therapy as a cure for thalassemia. This thalassemia treatment seeks to replace the gene that is missing or mutated in the body so as to cure the disease.
Surgery:
If the spleen enlarges beyond its normal size then surgery to remove the spleen (splenectomy) may be required.
Conclusion
Thalassemia is a severe hereditary disease that has to be controlled throughout the patient’s life. It is crucial for people with thalassemia and their families to know about the thalassemia symptoms, thalassemia meaning, features of the disease, its causes, and the ways to treat it. Thalassemia is not fatal, but if diagnosed early and treated well, most patients can live normal lives. If you think you or someone you know might have thalassemia disease, it is advised to consult a doctor for diagnosis and management.
