Thalassemia
By Dr Anmol Arora (Sr Homoeopathic Specialist)
What are thalassemias?

Thalassemias are inherited blood disorders. “Inherited” means they’re passed on from parents to children through genes.
Thalassemias cause the body to make fewer

healthy red blood cells and less haemoglobin than normal. Haemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it’s exhaled.
People who have thalassemias can have mild or severe anaemia .This condition is caused by a lower than normal number of red blood cells or not enough haemoglobin in the red blood cells.
What Causes Thalassemias?
Your body makes three types of blood cells: red blood cells, white blood cells, and platelets (PLATE-lets). Red blood cells contain haemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body. Haemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs to be exhaled.
Haemoglobin has two kinds of protein chains: alpha globin and beta globin. If your body doesn’t make enough of these protein chains, red blood cells don’t form properly and can’t carry enough oxygen. Your body won’t work well if your red blood cells don’t make enough healthy haemoglobin.
Genes control how the body makes haemoglobin protein chains. When these genes are missing or altered, thalassemias occur.
Thalassemias are inherited disorders. That is, they’re passed on from parents to their children through genes. People who get abnormal 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 abnormal genes on to their children.
People with moderate to severe forms of thalassemia have inherited abnormal genes from both parents.
Alpha Thalassemias
Four genes (two from each parent) are needed to make enough alpha globin protein chains. If one or more of the genes is missing, you will have alpha thalassemia trait or disease. This means that you don’t make enough alpha globin protein.
If you have only one missing gene, you’re a silent carrier and won’t have any signs of illness.
If you have two missing genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anaemia.
If you have three missing genes, you likely will have haemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anaemia.
Very rarely, a baby will have all four genes missing. This condition is called alpha thalassemia major or hydrops fetalis. Babies with hydrops fetalis usually die before or shortly after birth
Inheritance Pattern for Alpha Thalassemia

The diagram shows one example of how alpha thalassemia is inherited. The alpha globin genes are located on chromosome 16. A child inherits four alpha globin genes – two from each parent. In this example, the father is missing two alpha globin genes and the mother is missing one alpha globin gene.
Therefore, each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (haemoglobin H disease), four normal genes (no anaemia), or one missing gene and three normal genes (silent carrier
Beta Thalassemias
Two genes (one from each parent) are needed to make enough beta globin protein chains. If one or both of these genes are altered, you will have beta thalassemia. This means that you don’t make enough beta globin protein.
If you have one altered gene, you’re a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anaemia.
If both genes are altered, you will have beta thalassemia intermedia or beta thalassemia major (also called Cooley’s anemia). The intermedia form of the disorder causes moderate anaemia. The major form causes severe anaemia.
Inheritance Pattern for Beta Thalassemia

The diagram shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child inherits two beta globin genes—one from each parent. In this example, each parent has one altered beta globin gene.
Therefore, each child has a 25 percent chance of inheriting two normal genes (no anaemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major).
Who Is At Risk for Thalassemias?
Family history and ancestry are the two risk factors for thalassemias.
Family History
Thalassemias are inherited, which means they’re passed on from parents to their children. If your parents have missing or altered hemoglobin-making genes, you may have a thalassemia.
Ancestry
Alpha thalassemias most often affect people of Southeast Asian, Indian, Chinese, or Filipino origin or ancestry.
Beta thalassemias most often affect people of Mediterranean (Greek, Italian, and Middle Eastern), Asian, or African origin or ancestry.
What Are the Signs and Symptoms of Thalassemias?
Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. This occurs because the body doesn’t make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder.
No Symptoms
Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. This is because the lack of alpha globin protein is so small that hemoglobin works normally.
Mild Anaemia
People who have alpha or beta thalassemia trait can have mild anaemia. However, many people with this type of thalassemia have no signs or symptoms.
Mild anaemia can make you feel tired. It’s often mistaken for iron-deficiency anemia.
Mild to Moderate Anaemia and Other Signs and Symptoms
People with beta thalassemia intermedia have mild to moderate anaemia. They also may have other health problems, such as:
Slowed growth and delayed puberty. Anaemia can slow down a child’s growth and development.
Bone problems. Thalassemia may make bone marrow (the spongy material inside bones that makes blood cells) expand. This causes wider bones than normal. Bones also may be 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 a 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 Anaemia and Other Signs and Symptoms
People with haemoglobin H disease or beta thalassemia major (also called Cooley’s anemia) have severe thalassemia. Signs and symptoms occur within the first 2 years of life. They may include severe anaemia and other serious health problems, such as:
Pale and listless appearance
Poor appetite
Dark urine
Slowed growth and delayed puberty
Jaundice (a yellowish color of the skin or whites of the eyes)
Enlarged spleen, liver, and heart
Bone problems
Complications of Thalassemias
Better treatments now allow people who have moderate and severe thalassemias to live much longer. As a result, these people must cope with complications of the disorder that occur over time.
Heart and Liver Disease
Regular blood transfusions are a standard treatment for thalassemias. As a result, iron can build up in the blood. 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 This is a condition in which bones are weak and brittle and break easily.
How Are Thalassemias Diagnosed?
Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special haemoglobin tests.
A CBC provides information about the amount of haemoglobin 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 haemoglobin in their blood than normal. People who have alpha or beta thalassemia trait may have smaller than normal red blood cells.
Haemoglobin tests measure the types of haemoglobin in a blood sample. People who have thalassemias have problems with the alpha or beta globin protein chains of haemoglobin.
Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anaemia, appear within the first 2 years of life.
People who have milder forms of thalassemia may be diagnosed after a routine blood test shows they have anaemia. Doctors suspect thalassemia if a child has anaemia and is a member of an ethnic group that’s at increased risk for thalassemia.
Doctors also do tests on the amount of iron in the blood to find out whether the anaemia is due to iron deficiency or thalassemia. Iron-deficiency anaemia occurs when the body doesn’t have enough iron to make haemoglobin. The anaemia in thalassemia occurs because of a problem with either the alpha globin chain or the beta globin chain of haemoglobin, not because of a lack of iron.
Because thalassemias are passed on from parents to children, family genetic studies also can help diagnose the disorder. This involves taking a family medical history and doing blood tests on family members to show whether any have missing or altered haemoglobin genes.
If you know of family members who have thalassemias and you’re thinking of having children, consider talking with your doctor and/or a genetic counselor. They can help determine your risk for passing on the disorder to a child.
If you’re expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing.
Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother’s womb.) Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it’s likely
How Are Thalassemias Treated?
Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. They need little or no treatment.
Doctors use three standard treatments for moderate and severe forms of thalassemia. These include blood transfusions, iron chelation therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they’re used much less often.
Standard Treatments
Blood Transfusions
Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. A blood transfusion, given through a needle in a vein, gives you healthy red blood cells with normal hemoglobin. Red blood cells live for only about 120 days. So, you may need repeated transfusions to maintain a supply of healthy red blood cells.
If you have hemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions on occasion. For example, you may need this treatment when you have an infection or other illness, or when your anaemia is severe enough to cause tiredness.
If you have beta thalassemia major, or Cooley’s anaemia, you need regular blood transfusions (often every 2 to 4 weeks). These will help you maintain normal haemoglobin levels and red blood cell numbers. Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood.
Blood transfusions are lifesaving, but they’re expensive and carry a risk of transmitting infections and viruses (for example, hepatitis). However, this risk is very low in the United States because of careful blood screening.
Iron Chelation Therapy
Because the haemoglobin in red blood cells is an iron-rich protein, 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, iron chelation therapy is needed to remove excess iron from the body.
Folic Acid Supplements
Folic acid is a B vitamin that helps build healthy red blood cells. You may need to take folic acid supplements in addition to blood transfusions and/or iron chelation therapy.
Other Treatments
Other treatments have been developed or are being tested, but they’re used much less often.
Blood and Marrow Stem Cell Transplant
A blood and marrow stem cell transplant replaces your abnormal or 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 the severe form of the disorder are able to find a good match among donors and have the risky procedure.
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