Thalassemia
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 –
The treatment depends on the type and severity of the disease involved.
Some of the treatments include –
• Blood transfusions
• Bone marrow transplant
• Medications and supplements
• possible surgery to remove the spleen or gallbladder
Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you need blood transfusions because people who receive them accumulate extra iron that the body can’t easily get rid of. Iron can build up in tissues, which can be potentially fatal.
If you’re receiving a blood transfusion, you may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
Diet to be recommended –
A low-fat, plant-based, diet is the best choice for most diseased people. Fish and meats are rich in iron, so you may need to limit these in your diet. You may also consider avoiding fortified cereals, bread, and juices. They contain high iron levels, too.
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