What is Thalassaemia 

Thalassemia is an inherited disorder characterized by reduced levels of hemoglobin, oxygen-carrying proteins, and fewer red blood cells than normal. Common symptoms of this disease may include weakness, exhaustion, and stunted development. More severe cases frequently call for either blood transfusions or stem-cell transplants from a suitable donor, whereas milder forms of the illness might not need treatment.  Planning the best course of therapy requires an understanding of the disorder's etiology, method of inheritance, and physiological effects. Every year, World Thalassemia Day is held to increase awareness of this illness. 

Theme

The theme for this year's World Thalassemia Day is, 

 ” Empowering Lives, Embracing Progress: Equitable and Accessible Thalassemia Treatment for All.”

This topic functions as an appeal to all people to work with communities worldwide to raise awareness of Thalassemia and its treatment alternatives.

History

Panos Englezos, the President and Founder of the Thalassemia International Federation founded World Thalassemia Day in 1994 as a tribute to his son George and other patients with Thalassemia who fought bravely against the illness. Ever since May 8 has been observed annually as World Thalassemia Day.

Significance

Thalassemia is a hereditary disorder passed down from the parents to the offspring. On World Thalassemia Day, initiatives are taken to debunk misconceptions about the condition and spread accurate information to the general public. Global communities and organizations collaborate to guarantee that everyone, regardless of circumstances, may receive treatment for Thalassemia. To avoid future health issues, it is also suggested that you see a doctor before getting married to someone who has Thalassemia.

Symptoms

Thalassemia comes in several forms. The symptoms you experience depend upon the severity of your condition. Signs and symptoms of Thalassemia may include:

• Weakness 
• Fatigue
• Pale or Yellowish Skin
• Facial Bones Deformities
• Stunt Growth
• Dark Urine
• Abdominal Swelling

Some infants with Thalassemia exhibit symptoms from birth, whereas others experience them in their first two years of life. Some patients who have only one mutated hemoglobin gene don’t show any symptoms. 

Causes

The main cause of Thalassemia is the mutation in the DNA of cells that make hemoglobin. This mutation is then passed down from the parents to the children. Hemoglobin molecules are made of two kinds of chains, alpha and beta chains that are affected by the mutation. Their production is reduced, resulting in Alpha-Thalassemia and Beta-Thalassemia.

Types of Thalassemia

There are two types of Thalassemia, Alpha-Thalassemia and Beta-Thalassemia. 

• In Alpha-Thalassemia, the number of gene mutations you receive from your parents determines the severity of your alpha-Thalassemia. Thalassemia will be more severe if you have more mutated genes
• In Beta-Thalassemia, the severity of Thalassemia you have depends on the part of the hemoglobin molecule that is affected.

Complications

Possible complications of moderate to severe Thalassemia include:

• Infection: Infection risk is higher in Thalassemia patients. This is particularly true if you have had your spleen removed. 

• Iron overload: People suffering from Thalassemia have too much iron in their bodies either from the disease or blood transfusions. This will further affect the liver, heart, and other endocrine systems of the body. 

 In cases of severe Thalassemia, the following complications may occur:

• Slowed growth rates: Anemia can cause a child to grow more slowly and postpone puberty. 
• Heart problems: Abnormal heart rhythms and congestive heart failure are associated with severe Thalassemia.
  

• Enlarged spleen: The spleen helps your body fight against unwanted or old red blood cells. The destruction of red blood cells during Thalassemia may cause your spleen to grow larger than normal. An enlarged spleen can reduce the life of transfused red blood cells and make anemia worsen. If it grows too big you have to remove it through surgery.

• Bone deformities: Your bones may enlarge due to bone marrow expansion brought on by Thalassemia. This may lead to aberrant bone structure, particularly in the skull and face. In addition to making bones brittle and thin, bone marrow growth raises the risk of broken bones.

Diagnosis

You'll undergo blood testing if a physician suspects you have Thalassemia. CBC (complete blood count) and Hemoglobin Electrophoresis Test are the two common tests to diagnose Thalassemia. 

If you trying to have a baby or are pregnant, you can have tests to learn whether your baby will have the condition or not.

• Genetic testing can determine if you or your partner carries any of the defective genes of Thalassemia. 
• Chorionic villus sampling tests a small portion of the placenta to determine if a child carries the Thalassemia-causing genes. This test is often performed by doctors around the eleventh week of pregnancy. 
• Amniocentesis tests Doctors take the fluid around your baby. Doctors usually perform this test around the 16th week of the pregnancy.  

Treatment

In a moderate case, you could feel worn out and not require medical attention. However, when it becomes worse, your organs can’t get the required oxygen.  Possible courses of treatment are: 

Blood transfusions: A transfusion is a method of getting donated blood or blood components your body requires such as hemoglobin. The frequency of transfusion needs varies. A few individuals get one every several weeks. As you age, the transfusion regimen may alter. 

Chelating therapy: Blood transfusions are crucial for Thalassemia patients. Yet, they may result in an excess of iron in the blood. This may result in liver, heart, and blood sugar issues. You and your doctor will discuss if you need medication to assist your body rid itself of excess iron if you get transfusions.

Stem cell or bone marrow transplant: Sometimes a matched donor's stem cells might be used to treat Thalassemia.

Supplements: Your doctor may occasionally advise you to take more folic acid or other supplements. 

Surgery: Some Thalassemia patients may require the removal of their spleen. Occasionally, reactions such as low blood pressure, nausea, high fever, and diarrhea result from blood transfusions. Consult your physician if you experience any of the above symptoms. 

Prevention

Thalassemia is usually not preventable. If you are a Thalassemia carrier or have the disease, you should think about seeking advice from a genetic counselor before starting a family.

There is a kind of assisted reproductive technology that involves combining in vitro fertilization with an early screening for genetic abnormalities in embryos. This may make it easier for parents who carry a faulty hemoglobin gene or who have Thalassemia to give birth to healthy children.

The process entails removing mature eggs and fertilizing them in a lab dish with sperm. Only the embryos free of genetic flaws are inserted into the uterus after being examined for genetic problems. 

Risk factors

The following are some factors that raise your risk of Thalassemia:

• Family history of Thalassemia: Parents can pass on Thalassemia to their offspring through mutated hemoglobin genes.
• Certain ancestry: People of Mediterranean and Southeast Asian heritage, as well as African, and Americans, are the most common populations to have defective genes of Thalassemia

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