Thalassemia FAQs

Dr. Surender Kumar MBBS

Yes, thalassemia is an inherited disorder, which means it is passed on from the parents to their children through genes.

Genes occur in pairs: a child gets one gene from the mother and one from the father for every trait, including the colour of their eyes and some health conditions.

If the child inherits one faulty thalassemia gene from one parent but a normal gene from the other, they are called carriers. Carriers often do not have any signs of illness other than mild anaemia. 

People who inherit faulty thalassemia genes from both parents tend to have moderate to severe forms of thalassemia. 

Carriers do not have a disease; however, they can pass the faulty gene on to their child. If their partner is either a carrier or a thalassemic, then that would increase the couple's chances of having a thalassemic baby.

Dr. Vedprakash Verma MBBS, MD

Thalassemia minor

Thalassemia minor is a less dangerous state as the person presents with mild anaemia. Usually, the patient is given no specific treatment but they are capable of passing on the disease to their next generation. 

Thalassemia major

Thalassemia major is the more severe form of the disease. A person suffering from thalassemia major requires regular blood transfusions and extensive medical care for their survival.

They start presenting with symptoms like a pale body, listless appearance and poor appetite, within the first two years of life. If they do not get any treatment, they may suffer from enlargement of organs like the spleen, liver and heart. Their bones soon become thin and brittle.

It has been reported that children who didn't get treated for thalassemia major died because of heart failure and various infections.

Dr. Anand Singh MBBS

Alpha thalassemia is seen when any one or all four alpha-globin genes that make haemoglobin are missing or damaged. However, the disease presentation is different if one gene is missing and if all four are missing.

If one alpha-globin gene is missing or damaged: Silent carrier

• The person shows no symptoms, so no treatment is required.
• The size of the red blood cells is smaller than usual.
• The patient is a silent carrier, which means they can pass the defective gene on to their child.

If two alpha-globin genes are missing or damaged: Alpha thalassemia minor

• The person has mild anaemia but does not require any treatment.
• This condition is known as alpha thalassemia minor.

If three alpha-globin genes are missing: Haemoglobin H disease

• The person may show mild to moderately severe anaemia. If the anaemia gets severe, the person may require blood transfusions.
• This condition is sometimes called haemoglobin H disease.

If all four alpha-globin genes are missing: Alpha thalassemia major

This is a severe condition. In rare cases, if a pregnant woman is carrying a fetus with alpha thalassemia major, the fetus may be stillborn or the baby could die soon after birth. This is known as hydrops fetalis.

Dr. Vedprakash Verma MBBS, MD

Beta thalassemia is the most common form of thalassemia. Beta thalassemia occurs when one or both (of the two) genes that form beta-globin get completely or partially damaged.

If one beta-globin gene is damaged: Beta-thalassemia minor

• The person would have mild anaemia but usually does not require any treatment.
• This condition is known as beta-thalassemia minor and it happens when you get a normal gene from one parent and a thalassemia gene from the other.

If both the beta-globin genes are damaged: Beta-thalassemia intermedia or Beta-thalassemia major

• This condition is seen in people who inherit the thalassemia gene from both parents.
• The symptoms of anaemia start showing up within a few months after being born. The anaemia can get to a moderate or severe state. 
• If the person has moderate anaemia, they may require blood transfusions. This condition is known as beta-thalassemia intermedia. 
• If the person has severe anaemia, they would require blood transfusions throughout life. This condition is known as beta-thalassemia major or Cooley's anaemia.

Dr. Rahul Poddar MBBS, DNB, MBBS, DNB

People with moderate and severe thalassemia are usually severely anaemic, which means they have low levels of haemoglobin in their body, so they are not allowed to donate blood. However, people with milder forms of anaemia can donate blood, if their haemoglobin levels match the specified criteria. 

Dr. Haleema Yezdani MBBS

Women who are carriers of thalassemia usually don't have any problems conceiving. However, women who have a moderate or severe form of thalassemia, need blood transfusions for their survival. Due to the continuous blood transfusion, these women suffer from delayed puberty and amenorrhea (no periods), which makes it difficult for them to get pregnant. The extra iron in the transfused blood is also known to damage the ovaries and the testes. Women with any kind of thalassaemia should get themselves and their partners tested before planning a pregnancy because:

• If a woman is a carrier of thalassemia and her partner is also a carrier, they must visit a genetic counsellor to discuss the effects of this on their baby.
• Due to some complications, some people with thalassaemia need fertility treatment in order to conceive a baby.
• The woman must know that she may need extra monitoring and there would be changes in her treatment plan during pregnancy.

Dr. Uday Nath Sahoo MBBS

Most severe thalassemia patients can live up to 30 years, whereas with improved facilities, they can live up to 60 years.

A person who is in the carrier state or has mild thalassemia won't require any treatment and can live their life normally.

However, the life expectancy of a person with moderate or severe thalassemia depends upon their medical care. The availability of required treatment such as blood transfusions or chelation therapy on a regular basis from a haematologist prevents them from severe anaemia and possible organ damage from iron overload.

Dr. Anand Singh MBBS

No, thalassemia is not a type of blood cancer. Thalassemia is a genetically inherited blood disorder in which there is either absence of good haemoglobin or the presence of faulty haemoglobin. However, in the case of blood cancer, there is a multiplication of abnormal white blood cells in the body which reduce the ability of the body to fight against diseases. Both diseases can be life-threatening if not diagnosed and treated early. 

Dr. Uday Nath Sahoo MBBS

If a child is born as a carrier of thalassemia, they would be able to live their life just like a healthy person. However, if the child has a severe form of thalassemia, such as thalassemia major, they would start showing severe symptoms such as severe anaemia, jaundice and organ enlargement even before they attain the age of two years.

In people with thalassemia intermedia, the symptoms may appear at a later age. 

Dr Anjum Mujawar MBBS, MBBS

The treatment of thalassemia depends on the severity of the disorder. For instance, people who are in the carrier state would not require any treatment. Also, the ones with alpha or beta thalassemia minor with no symptoms would not require any treatment. However, for the people who suffer from moderate and severe forms of thalassemia, doctors use three standard treatments, which are:

• Blood transfusions: Blood transfusion involves the transfer of red blood cells in the body of people who have moderate or severe thalassemia. This treatment provides their body with healthy red blood cells that have normal haemoglobin. The procedure of blood transfusion takes one to four hours. However, red blood cells live only for about 120 days, so the person requires a blood transfusion every few weeks.
• Iron chelation therapy: The heme part in haemoglobin is rich in iron. Thus, after such regular blood transfusions, there can be a buildup of iron in the blood. This causes iron overload in the body which can cause damage to the liver, heart, and other organs of the body. In order to prevent this damage, a therapy called iron chelation therapy is done to remove the excess iron from the body. Deferoxamine and deferasirox are the two medications which are used for iron chelation therapy.
• Folic acid: Vitamin B9, also known as folic acid, helps the body to build new healthy red blood cells. Doctors usually recommend folic acid supplements as an adjunct to blood transfusions and iron chelation therapy in thalassemia patients.