Thalassemia (Mediterranean anemia): Symptoms, Causes, Diagnosis & Treatment

Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.

There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provides instructions for making beta globin, while the HBA1 and HBA2 genes provide instructions for making alpha globin. Each person has two copies of each of these genes, one inherited from the mother and one from the father. Changes (mutations) in the HBB gene lead to reduced levels of beta globin and cause beta thalassemia. Loss (deletion) of some or all of the HBA1 and/or HBA2 genes results in a shortage of alpha globin, leading to alpha thalassemia

Self diagnosis – People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.

 How does Thalassemia affect your body?

When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.

What are the Causes of Thalassemia?

Thalassemias are inherited disorders—that is, they’re passed from parents to children through genes. People who inherit faulty haemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anaemia. However, they can pass the faulty genes on to their children. People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents.

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What are the Risk Factors of Thalassemia?

Common risk factors include –

Family History – Thalassemias are inherited—that is, the genes for the disorders are passed from parents to their children. If your parents have missing or altered haemoglobin-making genes, you may have thalassemia.

Ancestry – Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent

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What are the symptoms of Thalassemia?

No Symptoms – Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. The lack of alpha globin protein is so minor that the body’s haemoglobin works normally.

Mild Anemia – People who have alpha or beta thalassemia trait can have mild anaemia. However, many people who have these types of thalassemia have no signs or symptoms. Mild anaemia can make you feel tired. Mild anaemia caused by alpha thalassemia trait might be mistaken for iron-deficiency anaemia.

Mild to Moderate Anemia – People who have beta thalassemia intermedia have mild to moderate anaemia. They also may have other health problems, such as:

Slowed growth and delayed puberty – Anemia can slow down a child’s growth and development.

Bone problems – Thalassemia may cause bone marrow to expand. Bone marrow is the spongy substance inside bones that makes blood cells. When bone marrow expands, the bones become wider than normal. They may become brittle and break easily.

An enlarged spleen – The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anaemia worse. If the spleen becomes too large, it must be removed.

Severe Anemia – People who have haemoglobin H disease or beta thalassemia major (also called Cooley’s anaemia) have severe thalassemia. Signs and symptoms usually occur within the first 2 years of life. They may include severe anaemia and other health problems, such as:

  • A pale and listless appearance
  • Poor appetite
  • Dark urine (a sign that red blood cells are breaking down)
  • Slowed growth and delayed puberty
  • Jaundice (a yellowish color of the skin or whites of the eyes)
  • An enlarged spleen, liver, or heart
  • Bone problems (especially with bones in the face)
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How is Thalassemia diagnosed?

Thalassemia is diagnosed by CBC blood test –

A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.

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How to prevent & control Thalassemia?

Because thalassemia is passed from parents to children, it is very hard to prevent. However, if you or your partner knows of family members with thalassemia, or if you both have family members from places in the world where thalassemia is common, you can speak to a genetic counselor

Treatment of Thalassemia Allopathic Treatment

  • Blood Transfusions – Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. This treatment gives you healthy red blood cells with normal hemoglobin. During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours. Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a healthy supply of red blood cells.
  • Iron Chelation Therapy – The hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body.To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two medicines are used for iron chelation therapy.

Deferoxamine is a liquid medicine that’s given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems with vision and hearing.

Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and tiredness.

Folic Acid Supplements – Folic acid is a B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy.

Other Treatments:

Blood and Marrow Stem Cell Transplant – A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells. A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have severe thalassemias are able to find a good donor match and have the risky procedure.

Treatment of Thalassemia Homoeopathic Treatment

Common medications used to treat thalassemia are Pulsatilla Nigricans (30th potency), Ceanothus Americanus (both mother tincture and 6th potency) and Ferrum Metallicum .

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Thalassemia – Lifestyle Tips

  • Follow a healthy eating plan and your doctor’s instructions for taking iron supplements.
  • Get vaccinations as needed, especially if you’ve had your spleen removed. You may need vaccines for the flu, pneumonia, hepatitis B, and meningitis.
  • Watch for signs of infection (such as a fever) and take steps to lower your risk for infection, such as :
  • Wash your hands often.
  • Avoid crowds during cold and flu season.
  • Keep the skin around the site where you get blood transfusions as clean as possible.
  • Call your doctor if a fever develops.

What are Recommended Exercises for Person with Thalassemia?

Some people with thalassemia may have trouble participating in vigorous forms of exercise, many people with thalassemia can participate in moderate physical activities including biking, running, and walking.

Thalassemia & Pregnancy – Things to know

Whether you have thalassaemia or are a carrier, your baby will benefit if you take 5mg of folic acid daily throughout your pregnancy. This is because thalassaemia may increase the risk of your baby developing a neural tube defect, such as spina bifida. Taking a high dose of folic acid daily reduces this risk. Taking folic acid every day helps your blood to stay healthy too. Having thalassaemia can lead to anaemia during pregnancy.

If you have beta thalassaemia minor, your doctor will recommend you have extra tests to check your iron levels before you’re offered iron tablets. Beta thalassaemia minor can affect blood test results during pregnancy and indicate that your iron stores are low when they’re not.

Alpha thalassaemia minor can also cause anaemia, particularly if you carry two mutated genes. Alpha thalassaemia HbH disease can cause mild to severe anaemia and may mean you require blood transfusions during pregnancy.

Beta thalassaemia major makes it more likely that you will have complications during your pregnancy. Your organs, which are already under strain, will have the extra demands of growing a baby. Your transfusion and medication needs will probably change as your pregnancy progresses.

Common Complications Related to Thalassemia

Common complications include –

Heart and Liver Diseases – Regular blood transfusions are a standard treatment for thalassemias. Transfusions can cause iron to build up in the blood (iron overload). This can damage organs and tissues, especially the heart and liver. Heart disease caused by iron overload is the main cause of death in people who have thalassemias. Heart disease includes heart failure, arrhythmias (irregular heartbeats), and heart attack.

Infection – Among people who have thalassemias, infections are a key cause of illness and the second most common cause of death. People who have had their spleens removed are at even higher risk because they no longer have this infection-fighting organ.

Osteoporosis – Many people who have thalassemias have bone problems, including osteoporosis (OS-te-o-po-RO-sis). This is a condition in which bones are weak and brittle and break easily.

Other FAQs about Thalassemia

Is thalassemia fatal?

If you have thalassemia minor (trait), you are a carrier of the disease and your red blood cells are smaller than normal, but you are healthy. Thalassemia major can be fatal. People with alpha thalassemia major die in infancy. People with beta thalassemia major require regular blood transfusions.

Can thalassemia minor be cured?

Selected patients may qualify for bone marrow or stem cell transplants. Gene therapy remains a potential treatment for the future. The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.

What are the chances of getting thalassemia?

In each pregnancy, there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassemia minor or a one in four (25%) chance that the child will have thalassemia major.

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