What is Thalassemia?

Thalassemia is an inherited blood disease, causing one’s body to produce lesser red blood cells than normal. The red blood cells protein, also called “hemoglobin,” reduces in quantity and availability when thalassemia begins to manifest. Haemoglobins function as the body’s-manufactured proteins carrying oxygen to and fro to the human body system. Though an uncommon disease, thalassemia mostly results in serious complications which may lead to death when left untreated. Though a person with thalassemia is likely to have a normal life expectancy, severe heart complications may arise before 30.  Picture Courtesy: medline

What are the most common types Thalassemia?

There are two main types of thalassemia, which include: Picture Courtesy: Rare diseases

Alpha Thalassemia

This occurs when genes of alpha hemoglobin are mutated or reduced significantly. It involves the genes HBA1 and HBA2. In severe cases, this thalassemia is likely to affect the fetus in the mother’s womb, leading to the death of unborn babies due to the lack of oxygen supply and subsequent heart failure in the affected fetus. Alpha thalassemia is often caused by the abnormal or lack or loss of one to four genes. There are four types of this condition, and they include:

1. 1. 1. Silent Carrier; one gene missing.
      2. Carrier; two genes missing, usually occur with mild anemia.
      3. Hemoglobin (H disease), three genes missing, usually comes with a severe lack of blood.
      4. Alpha Thalassemia Major; all genes are missing, resulting in stillbirth or fetal death.

Note that hemoglobin primarily comprises four genes that alpha thalassemia affects. The symptoms of alpha thalassemia include:

• • • Fatigue (tiredness and shortened breath)
    • Jaundice (paleness of the skin and eyes)
    • Swollen abdomen
    • Darkened urine
    • Abnormal slow growth
    • Irritability
    • Facial deformities

 

Beta Thalassemia

This happens when low levels of red blood cells lead to a lack of oxygen in many body parts. It is caused by the reduction or absence of the synthesis of beta-globin chains.  Beta-globin is made up of two genes, one from each parent. Beta thalassemia is generally less risky and is caused by the absence of either one or both of the genes of one parent. The types of beta-thalassemia include:

1. 1. 1. Beta -Thalassemia Minor; is also known as the beta-thalassemia trait in which persons affected usually have a mild loss or lack of blood. It does not necessarily need treatment until serious symptoms occur.
      2. Beta-Thalassemia Intermedia; persons with this type of beta-thalassemia are prone to moderate lack of blood and would undergo blood transfusions.
      3. Beta- Thalassemia Major occurs when the parents’ beta-globin genes are missing. It is mostly recognized in the second year after the birth of an affected child.

Beta thalassemia major has the following symptoms:

• • • Severe lack of blood
    • Paleness of eyes or skin–Jaundice
    • Frequent infections
    • Enlargement of body organs
    • Moodiness
    • Abnormal heartbeat
    • Deformed bones.

Beta thalassemia major is also medically known as “Cooley’s anemia.” Patients with this condition have to undergo blood transfusions, especially from one of the parents.

What are the risk factors associated with Thalassemia?

A person falls at a higher risk of having any form of thalassemia if they:

• • • Has a family history of thalassemia.
    • Originates from Africa, Asia, or the Mediterranean.
    • Has both parents with the disorder.
    • Falls within the age range of 19-28 as an adult.
    • Falls within the range of fetus to 2 years as an infant.
    • Has sickle cell anemia.

What are the complications associated with thalassemia?

When thalassemia is left untreated, a lot of complications may arise. These include:

• • • The accumulation of iron in the blood.
    • Severe loss of blood.
    • Abnormal changes in the bone structure of one’s body.
    • Hampered growth, which would consequently lead to delayed puberty.
    • Facial distortion is due to the abnormal shifts in the bone structure of one’s face.
    • An enlarged spleen may lead to removing the spleen, thereby making the body prone to a higher rate of infections.
    • Abnormal rhythms of the heart.
    • Heart failure or other complications of the heart. 
    • Liver problems.

It is important to note that blood transfusion also gives rise to alloimmunization’s unhealthy complications. The recipient’s blood may react to the donor’s new blood and try to destroy it.

Diagnosis

As soon as the patient notices any symptom of thalassemia, they should seek the doctor immediately. The doctor will examine the patient and ask questions, which the patient has to answer correctly (to ensure safe results).  Once the doctor suspects that the patient is suffering from the disorder, the patient has to undergo the following tests: Blood Tests. This would involve the examination of the blood. The doctor will perform any or all of the following tests, depending on the physical examination and history of complaints from the patient. 

• • • A complete blood count (CBC)test.

A CBC checks the levels of hemoglobin in the body and the sizes of the red blood cells.

• • • A reticulocyte count.

This measures how the bone marrow releases fast hemoglobins.

• • • An iron test.

This test is conducted to examine the lack of blood in the bloodstream. Nevertheless, in thalassemia, iron deficiency does not certainly affect anemia.

• • • Prenatal Tests.

If a woman happens to carry a child in her womb, the doctor can conduct a series of assessments to check if the fetus is likely to have the condition.  These tests include:

• • • DNA testing/Genetic tests.

This shows if the woman or her spouse has any gene defect that results in thalassemia.

• • • Amniocentesis tests.

These examine the fluids around the fetus. They are usually carried out around the 16th week after conceiving.

• • • Chorionic villus sampling.

This checks if a fetus has any gene carrying thalassemia. It is carried out by the 11th week after conceiving. With the use of a functioning microscope, the doctor may be able to find small red blood cells in abnormal shape, as this serves as an indication of thalassemia. Specialty The physician who performs the diagnosis for thalassemia is medically known as a hematologist. A hematologist is a doctor whose specialty is the study of blood, blood-forming organs, and blood diseases such as thalassemia.

What are the Treatment options available in treating thalassemia?

There are various ways of treating all forms of thalassemia. Some of these methods include the below:

• • • The Use of Vitamins.

Vitamin D and other vitamins can support the normal functions of the body and growth and development, especially in adolescents who need to undergo puberty.

• • • Iron Chelation Therapy.

With the help of iron reducers which assist in reducing the excesses of iron from the body, this therapy curtails iron levels in the blood.  This may involve the administering of the following medications:

• • • Deferoxamine (injected into the skin).
    • Deferasirox (oral medications ).
    • Folate (folic acid) supplements.

These folate supplements help in the development of red blood cells.

• • • Blood Transfusion.

This is the most common method of treating all forms of thalassemia. It involves the transfer of blood from a healthy “donor” (the person donating the blood) to a sick “recipient” (the person receiving the blood).  This transfer gives replenishment to hemoglobin levels in the body of the recipient, as well as their red blood cell levels. Regular blood transfusions may be important for some types of thalassemia. People with thalassemia major will need up to 8–12 rounds of transfusion per year. In contrast, those with thalassemia traits, thalassemia minor, and thalassemia intermedia will require 8 and below transfusions per year (or probably more if stress and infections persist).  It is, however, risky because frequent transfusions may lead to alloimmunization (blood fight) or iron overload (pileup of iron in the blood of the recipient). The iron overload would subsequently lead to damage to the heart, liver, bladder, etc.

• • • Stem Cells /Bone Marrow Transplant.

This can help in destroying the need for frequent transfusions or drugs. A biological (blood-related) sibling of the thalassemic patient is usually the best choice for transferring stem cells to the patient.

• • • Growth Hormone Therapy.

This helps increase the growth rate of thalassemic children. It eliminates delayed puberty and stunted growth in adolescents who are battling thalassemia.  Growth hormone (also known as GH) is manufactured and released by a gland that fastens cell production. GH is primarily used as a medication for quickening growth in children.

• • • Genetic Therapy.

 Under thorough investigation and analysis, this form of treatment for patients with thalassemia involves the insertion of beta-globin genes into the patient’s bone marrow or medications that boost the genes that release hemoglobins into the fetus.

• • • Surgery.

Patients suffering from thalassemia, who have enlarged spleen or gallbladder, are advised to undergo surgery (removal of gallbladder or spleen) for safety purposes. The removal of the enlarged body organs is important to prevent future complications. Surgery is also necessary to correct deformities of the bone tissues or the various bone abnormalities in the body of a thalassemic patient.

Lifestyle Management

For persons living with thalassemia, proper healthcare is needed. As a thalassemic individual, the patient is advised to follow the instructions strictly. A few of the instructions are listed below: 

• • • Attend all appointments made by the physician.
    • Honestly answer all questions asked by the doctor before undergoing any treatment procedure.
    • Keep an attitude towards positivity; avoid negative thoughts about one’s health condition.
    • Maintain a healthy and adequately balanced diet by:
    • Avoiding cereals, bread, and juices.
    • Eating plant-based foods.
    • Avoiding iron-rich foods (if your iron level is high).
    • Eating leafy foods and legumes (as they contain folic acids that fight off iron levels).
    • Exercise regularly. Do not stress too much.
    • Be in close contact with friends and support group networks.
    • Seek prenatal counseling (if pregnant).
    • Seek genetic counseling.
    • Consult the doctor promptly whenever the patient has a fever or other illness.
    • Avoid iron pills (since they contribute to the pileup of irons in the bloodstream).
    • Wash hands regularly.
    • Consult the doctor about supplements like: Calcium, Vitamins, Folates.
    • Observe a safe distance from sick persons.

What is the life expectancy of a thalassemia patient?

Thalassemia is not a curable condition. It is a genetic disorder. A patient undergoing stem cells and bone marrow transplants can help treat the disorder.  Children under the age of 10 have an estimated 99% survival rate from the condition. Upon clocking 20, young adults can live up to 30, with a survival rate of approximately 88%. After turning 30, thalassemic adults live at an estimated survival rate of 74% until they are 45 years old.  Approximately 68% of thalassemic individuals can survive till the age of 50. Only an estimate of 51% of persons suffering from the disorder (thalassemia) can live up to 55. Women generally have a longer survival rate, while men have a higher mortality rate of 45%. As of 2015, approximately 17,000 people have died from thalassemia, bringing the number of deaths in 2021 to probably 29,000 individuals or more. The disorder has an approximate death rate of 7%.   

Symptoms

SYMPTOMS

When you happen to have thalassemia, you may observe the following symptoms:

• Slow or delayed growth in infants.
• Weak or deformed bones.
• Fatigue, drowsiness, weakness, tiredness.
• The enlargement of your spleen; Your spleen is an organ in your body that is responsible for purifying your blood and fighting off infections, in your abdomen.
• Pale or yellow skin or eyes (jaundice).
• Malnutrition or poor feeding.
• Problems about the loss of appetite.
• Irregular heartbeat.
• Chest pains.
• Heart failure or other complications of the heart.
• The dark shade of urine.
• Shortened breath or other breath-related issues.
• Headaches.
• Cold hands and feet.
• Leg cramps.
• High possibility of being prone to infections.
• Facial bone deformities.
• Excess iron in the bloodstream.
• Growth failure or stunted growth.
• Swelling of the stomach area.

Causes

CAUSES OF THALASSEMIA

Thalassemia is a genetic distorted trait passed down from parents to offspring. However, the cause of the condition depends on the type. Alpha thalassemia is caused by the absence of one to four of the hemoglobin genes, while beta-thalassemia is caused by the absence of the two beta-globin genes gotten from each parent.

FAQ

• • Can thalassemia be cured?

Thalassemia is a genetic disease. There is no cure for it, but it can be suppressed with some specific treatments. Stem cells and bone marrow transplants can cure thalassemia, while other treatments like surgery and iron chelation can only reduce it. 

A few individuals suffering from thalassemia major can get a good donor match and get their blood transfused, while many others do not. 

Thalassemic patients who cannot get compatible blood from their donors may end up getting alloimmunized (a condition whereby a person’s blood may react to new blood from a donor and tries destroying it).

• • How do I know if I have a thalassemia carrier?

The doctor will examine the patient suspected of having a thalassemia carrier by carrying out a few blood tests. The blood tests can take the form of a complete blood count, iron test, or reticulocyte count. The hematologist can perform these tests with the help of a functioning microscope.

• • Is thalassemia a serious disease? 

Thalassemia is a critical condition. Its signs and symptoms show up two years after birth. These pointers include pale skin, frequent loss of appetite, and stunted growth. 

Routine blood transfusions and growth hormone therapies can serve as proper methods of treating thalassemia, but the frequency of blood transfusions can result in bad effects. Therefore, continuous blood transfusions are not medically advisable.

• • Is thalassemia linked to leukemia?

According to the NHI (National Health Institute), the coexistence of thalassemia with cancers like leukemia has been reported. This coexistence could be explained by either habitational (relating to habitat or natural environment) or genetic relationships.

• • Does thalassemia weaken the immune system?

Some of their bodies’ defenses against infections do not work when people suffer from thalassemia. When such happens, extra protection is needed. 

Some of the preventive measures taken against thalassemia, which weakens the immune system and makes its patients prone to diverse infections, include: 

• • • Covid-19 vaccines.
    • Anti-malaria drugs.
    • Flu shots and other vaccines.
  • What is the difference between alpha and beta-thalassemia? 

Thalassemia is a group of genetic disorders characterized by defects in the production of hemoglobulin. Thalassemia can be divided into two groups. They are Alpha thalassemia and Beta-thalassemia. Alpha thalassemia is caused by reduced or absent synthesis of alpha-globin, while beta-thalassemia is caused by reduced or absent synthesis of beta-globin chains.