Thalassemia refers to an inherited disorder of the blood that leads to a decrease in the quantity of hemoglobin in your body. The quantity of hemoglobin becomes less than normal. It makes the red blood cells able to carry a specific level of oxygen.
It can cause the condition of anemia, leaving you to feel fatigued. You might not require treatment if you are experiencing mild thalassemia. But severe conditions need regular transfusions of blood.
You can take different steps to cope with your fatigue such as doing exercise regularly and eating a healthy diet. Keep noticing your symptoms and seek medical care if you are experiencing these symptoms at a severe level.
Symptoms
Thalassemia has several types. Symptoms of this condition are associated with the type and severity of its condition. Symptoms of thalassemia include:
- Weakness
- Fatigue
- Yellowish or pale skin
- Slow growth
- Deformities of facial bone
- Swelling of abdomen
- Dark urine
Symptoms of thalassemia appear in some babies at birth. Others develop these symptoms during the first two years after their birth. If only one gene of hemoglobin is affected in people then they do not show the symptoms of thalassemia.
If your child is showing the symptoms of thalassemia then make an appointment with a healthcare professional to seek immediate treatment. It is important to diagnose thalassemia at early stages to avoid complications.
Causes
Mutations in the specific cells of DNA that are involved in making hemoglobin cause thalassemia. Mutations that are linked with thalassemia are passed in children from parents. Molecules of hemoglobin are made of specific chains.
These chains are known as alpha and beta chains. Mutation can affect these chains that lead to a decrease in the production of one of these chains. It can cause alpha or beta-thalassemia.
Alpha-Thalassemia
In the condition of alpha-thalassemia, symptoms severity is associated with the mutations of genes that you have inherited from your parents. The more you have mutated genes, the more severe your symptoms of thalassemia will be.
Four genes are involved in the process of making the alpha hemoglobin chain. You get two genes from each parent. If you have inherited:
- One Mutated Gene, you will have no symptoms of thalassemia. But still, you are a carrier of this disease and can transmit it to your children.
- Two Mutated Gene, your symptoms of thalassemia will be mild. It is called the alpha-thalassemia trait.
- Three Mutated Genes, your symptoms of thalassemia will be moderate to severe.
Inheriting four mutated genes from parents occurs rarely. It leads to stillbirth. Babies who have this condition from birth may die shortly or they need transfusion therapy for a longer period of time. A child can take treatment of transfusion rarely who may be born with this condition.
The same is the case with the treatment of stem cell transplants. It is also rare in the children who are born with this condition.
Beta-Thalassemia
In beta-thalassemia, the severity of thalassemia symptoms depends on the part of the hemoglobin molecule that is affected. Two genes are involved in the process of making the chain of beta hemoglobin. You get one gene from each parent. If an individual has inherited:
- One Mutated Gene, you will experience mild symptoms. It is known as beta-thalassemia or thalassemia minor.
- Two Mutated Genes, you will experience mild to severe symptoms. This condition is known as Cooley anemia or thalassemia major.
Babies who are born with two defective genes of beta hemoglobin are healthy at the time of birth. But they can develop the symptoms within the first two years after birth. A milder form of the disease is called thalassemia intermedia. Two mutated genes can cause this condition.
Risk Factors
Following are specific factors that are involved in enhancing the risk of getting thalassemia.
- Certain Ancestry: The disease of thalassemia occurs commonly in people of Southeast and Mediterranean and Asian descent and African Americans.
- Family History: This disease can be passed to children from parents through the mutated genes of hemoglobin.
Complications
Following are the possible complications of thalassemia.
Iron Overloaded
The quantity of iron has increased in people with thalassemia from frequent blood transfusions or any other disease. It can cause damage to your liver, heart, and endocrine system which includes the glands that are hormone-producing.
These glands regulate the specific processes throughout your body. If you notice the mild to severe symptoms of thalassemia or if you think that you are iron overloaded then go for a medical checkup to take early treatment.
Infection
People with thalassemia are vulnerable to developing different infections. If your spleen is removed then this condition is true.
