Thalassemia

July 5, 2021Articles

Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia results in excessive destruction of red blood cells, which leads to anemia, leaving you fatigued.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It is caused by either a genetic mutation or a deletion of certain key gene fragments.

Types –
Main forms of the disorder includes –

• Alpha Thalassemia
In this type, at least one of the alpha-globin genes has a mutation or abnormality. It has subtypes –
▪︎Haemoglobin H
▪︎Hydrops fetalis
The severity depends on the number of gene mutations you inherit from your parents. Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit-
☆ One mutated gene
you will have no signs or symptoms, but you are a carrier of the disease and can pass it on to your children.
☆Two mutated genes
Signs and symptoms may be mild.
☆ Three mutated genes
Signs and symptoms will be moderate to severe.
Inheriting four mutated genes is have and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy.
• Beta Thalassemia
In beta type, the beta-globin genes are affected. It has subtypes –
▪︎Major
▪︎Intermedia
The severity depends on which part of the hemoglobin molecule is affected. Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit –
☆ One mutated gene
You will have mild signs and symptoms
☆ Two mutated genes
Your sign and symptoms will be moderate to severe, this condition is called thalassemia major or Cooley anemia.
Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life.
•Thalassemia minor
Symptoms –

The symptoms can vary from person to person. Some of the common symptoms include –
• Excessive tiredness and fatigue
• Delayed growth and development
• Bone deformities, especially in the face
• Yellow or pale skin
• Dark urine
• Abdominal swelling
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
Causes –
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin – the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. The production of either the alpha or beta chains are reduced, resulting in either alpha or beta-thalassemia
Risk Factors –
• Family history of thalassemia
• Certain ancestry
Complications –
Possible complications of moderate to severe thalassemia include –
• Iron overload
People with this disease can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver, and endocrine system.
• Infection
People with this condition have an increased risk of infection. This is especially true if you have had your spleen removed.
In case of severe thalassemia, the following complications can occur-
• Bone deformities especially in your face and skull
• Enlarged spleen
• Slowed growth rates and delay puberty
• Heart problems such as congestive heart failure and abnormal heart rhythms
Diagnosis –
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. Confirmation of the disease can be by blood tests.

blood tests can reveal the number of red blood cells and abnormalities in size, shape, or color. Blood tests can be used for DNA analysis to look for mutated genes.

Treatment and Home Care –

If you have thalassemia, follow these habits to stay well –

• Eat a healthy diet to keep your bones strong and give you energy.

• If you get a fever or feel ill, see your doctor.• Stay away from sick people and wash your hands often.

• Stay up to date with vaccines.

• Ask your doctor about supplements like calcium and vitamin D.

• Don’t take iron pills.
The treatment depends on the type and severity of the disease involved.
Some of the treatments include –

With a mild case, you may feel tired and not need treatment. But if it’s more serious, your organs may not get the oxygen they need.

Treatment might include –

• Blood transfusions. A transfusion is a way to get donated blood or parts of blood that your body needs, like hemoglobin. How often you need transfusions can vary. Some people have one every few weeks. Your transfusion schedule may change as you get older.

• Chelation therapy. Blood transfusions are important for people with thalassemia. But they can cause too much iron in the blood. That can lead to problems with the heart, liver, and blood sugar. If you get transfusions, you and your doctor will talk about whether you need medicine that can help remove extra iron from your body.

• Stem cell or bone marrow transplant. An infusion of stem cells from a matched donor can sometimes cure thalassemia.

• Supplements. In some cases, your doctor might recommend that you take extra folic acid or other supplements.

• Surgery. Some people with thalassemia may need their spleen removed.

• Dhatri Avaleha may have a potential to increase blood transfusion interval and decrease secondary infection and thus it can be used as supportive therapy with modern medical management.

• Giloy helps in reducing the risk of developing thalassemia. It may be taken regularly to prevent the complications of the disease. Giloy Sattva is a useful herb that has been used traditionally for the treatment of any kind of blood disorders. It helps to get rid of anaemia and makes the body healthy.”

• 4-5 teaspoons of fresh Tulsi juice to get relief in Thalassemia. You can take it anytime in the day.

• Yog Nidra and Pranayama play a vital role in this condition. Breathing in is the oxygenation of the body at physical level which builds the life force. Relaxation is where repair and restoration of the cells happen. 

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