Thalassemia

Dr. Ayush PandeyMBBS

January 11, 2019

January 05, 2021

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Thalassemia
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India accounts for about 10% of the global burden of thalassemia, a genetic blood disorder in which the body starts making less or faulty haemoglobin. Almost 50% of people born with thalassemia in the country do not survive beyond the age of 20 years, as they are unable to get proper and sustained medical care.

Haemoglobin is an essential part of red blood cells (RBCs); it provides oxygen to the entire body. The normal concentration of haemoglobin is around 14 to 18 grams per deciliter of blood in men and 12 to 16 grams per deciliter of blood in women. Heme is the part of haemoglobin that binds with oxygen whereas globin is the protein that surrounds and protects heme. 

The "globin" in haemoglobin contains two types of protein chains: alpha-globin and beta-globin. A pair of HBB genes (beta-globin genes) is responsible for the production of the beta-globin protein chain. Whereas, two copies of HBA1 and HBA2 (alpha-globin genes) are responsible for the production of the alpha-globin protein chain. If there is any abnormality in any of these genes or if they go missing, the production of red blood cells becomes faulty. They lose the ability to carry enough oxygen. This condition is known as thalassemia.

What is Thalassemia

Thalassaemia is a genetic disorder that affects the red blood cells and is passed on from the parents. It is a condition in which the body produces abnormal haemoglobin, resulting in excessive damage of red blood cells which ultimately leads to anaemia.

Thalassemia Symptoms

The signs and symptoms of thalassemia can vary in different states, such as

1. Carrier state: A person in a carrier state may have a thalassemia gene in them but they do not present with any symptoms.

2. Mild thalassemia: These are the people suffering from alpha or beta-thalassemia minor. Their symptoms are:

  • Mild anaemia
  • Tiredness due to anaemia. 

However, some of the people with alpha or beta thalassemia minor do not present with any symptoms.

3. Moderate thalassemia: These are the people suffering from beta-thalassemia intermedia. These people can present with the following symptoms:

  • Mild to moderate anaemia
  • Slow growth and development
  • Delayed puberty
  • Expansion of bone marrow
  • Weak bones
  • Enlarged spleen 

4. Severe thalassemia: These are the people suffering from either haemoglobin H disease or beta-thalassemia major. These people present with severe symptoms of thalassemia. The symptoms start appearing within the first two years of birth. The symptoms are:

  • Severe anaemia
  • Pale and listless appearance
  • Loss of appetite
  • Dark coloured urine (due to breakdown of red blood cells)
  • Slow growth and development
  • Delayed puberty
  • Jaundice 
  • Enlargement of organs like spleen, liver or heart
  • Weakening of bone

Types of Thalassemia

There are two major types of thalassemia. Most of the people suffering from thalassemia present with the beta form. The two types are:

  1. Alpha thalassemia: this occurs when a genes associated with the alpha globin protein are missing or they mutate.
  2. Beta thalassemia: this occurs when the production of the beta globin protein is affected by a similar gene.

Thalassemia Causes

The main cause for the development of this disease is an abnormality in the genes involved in haemoglobin production. The genetic defect is mostly inherited from the parents. In case of only one parent having the condition, the child will be a carrier and may show minor or no signs of the disease. Thalassemia can affect alpha as well as beta chains of the red blood cells. Based on whether the offspring inherits one or two genes from the parents of alpha or beta thalassemia, the symptoms vary from nothing to life-threatening anaemia that needs frequent blood transfusions.

Diagnosis of Thalassemia

The symptoms of moderate and severe forms of thalassemia are usually seen in early childhood, so the diagnosis of the disease is done within the first two years of life. The doctor would diagnose the disease with the help of the following tests:

  • Complete Blood Count: A complete blood count (CBC) is a blood test which is done to measures the amount of haemoglobin in the blood. CBC also helps in measuring the size, number and quality of other kinds of blood cells, such as red blood cells and white blood cells.
  • Haemoglobin electrophoresis: Haemoglobin electrophoresis with haemoglobin F and A2 quantitation is a test which helps in determining the different types of haemoglobin in the body. This helps, as people with thalassemia may have faulty alpha or beta globin protein chains of haemoglobin.

Thalassemia Treatment

The treatment of thalassemia varies depending on the severity of the symptoms Some of the most common treatment methods are:

  • Blood transfusion
  • Doctors may prescribe supplements such as folic acid, calcium or vitamin D, and insist on limiting iron-rich foods in the diet. Iron supplements must be avoided at all cost
  • Bone marrow transplant
  • In some cases, surgery may be required to remove the spleen.

How to live with Thalassemia: management of disease

There are some things that a person with thalassemia should do in order live their life just like a healthy human being:

  • Stick to your treatment plan
    • Take your folic acid supplements, as prescribed by the doctor.
    • Keep your blood transfusion appointments. Scheduled them in advance.
    • Since iron chelation treatment takes time and is slightly painful, people tend to skip their medications. Do not skip or stop your medication without consulting your doctor.
  • Keep your vaccinations up to date
    • Get yourself vaccinated with all the necessary vaccines such as Haemophilus influenzae type b (Hib) vaccine, pneumococcal vaccine and meningococcal vaccine.
  • Avoid iron-rich food
    • People living with thalassemia, especially those who get blood transfusion on a regular basis, should avoid iron-rich food such as spinach, meat, chicken liver, offal and cereals. This is because their body is already dealing with too much iron build-up in the blood due to the transfusions. Before eating any such food item, consult your doctor. 
  • Exercise regularly
    • Doctors recommend that people with thalassemia should indulge in moderate physical activities such as cyclingrunning, and walking. If they have any problems in their joints, they can do low-impact activities such as yogaswimming, or water aerobics.


References

  1. MedlinePlus Medical Encyclopedia: US National Library of Medicine; Thalassemia.
  2. National Heart, Lung, and Blood Institute [Internet]: U.S. Department of Health and Human Services; Thalassemias.
  3. Center for Disease Control and Prevention [internet], Atlanta (GA): US Department of Health and Human Services; Thalassemia.
  4. National Institutes of Health; National Human Genome Research Institute. [Internet]. U.S. Department of Health & Human Services; About Thalassemia.
  5. National Health Portal [Internet] India; Thalassemia.

Doctors for Thalassemia

Dr. Srishti Gupta Dr. Srishti Gupta General Physician
1 Years of Experience
Dr. Ishita Bhasin Dr. Ishita Bhasin General Physician
1 Years of Experience
Dr. Abhishek Bunker Dr. Abhishek Bunker General Physician
2 Years of Experience
Dr. Vishwas Pahuja Dr. Vishwas Pahuja General Physician
1 Years of Experience
Consult a Doctor

Medicines for Thalassemia

Medicines listed below are available for Thalassemia. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.

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₹275.0

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₹830.0

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₹1493.33

20% छूट + 5% कैशबैक


₹378.0

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Thalassemia FAQs

Question 3 months ago

Can you inherit thalassemia?

Dr. Surender Kumar MBBS , General Physician

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.

Question 3 months ago

What is the difference between thalassemia major and thalassemia minor?

Dr. Vedprakash Verma MBBS , General Physician

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.

Question 2 months ago

What is Alpha Thalassemia?

Dr. Anand Singh MBBS , General Physician

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.

Question about 2 months ago

What is Beta Thalassemia?

Dr. Vedprakash Verma MBBS , General Physician

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.

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