Thalassemia

Overview

Thalassemia is a blood disorder inherited from parents, in which the body produces an abnormal form or insufficient amount of haemoglobin. Haemoglobin is the protein in red blood cells that carries oxygen. This disorder causes significant destruction of red blood cells, leading to severe anaemia.

What is Thalassemia?

Thalassemia is a genetic blood disorder that affects the body's ability to produce normal haemoglobin. Haemoglobin is a type of protein found in red blood cells that allows these cells to transport oxygen throughout the body, nourishing other cells.

For individuals with thalassemia, their body produces fewer healthy haemoglobin proteins, leading to a reduction in the number of healthy red blood cells produced by the bone marrow. This condition, characterised by a lower red blood cell count, is known as anaemia. Red blood cells play a crucial role in delivering oxygen to the body's tissues, so insufficient healthy red blood cells may deprive the cells of the oxygen they need to create energy and operate properly.

Types of Thalassemia

Thalassemia is a genetic blood disorder that affects haemoglobin production, resulting in anaemia. It is classified into different forms based on severity. There are two primary types of this disease:

Alpha Thalassemia

In alpha thalassemia, there are defects in the genes that make alpha globin protein chains. Normally, a person inherits four genes (two from each parent) for alpha-globin. The severity of symptoms depends on the number of defective genes inherited.

Beta Thalassemia

In beta thalassemia, there are defects in one or both of the two genes responsible for beta globin production, one inherited from each parent. Symptoms vary depending on the specific gene defects.

Thalassemia Symptoms

In its most severe form, thalassemia can have serious or even life-threatening effects:

Alpha Thalassemia Major: This form can lead to stillbirth, where the baby dies in the womb or during the late stages of pregnancy.

Beta Thalassemia Major: Babies with this condition appear healthy at birth but develop severe anaemia within their first year.

Other symptoms of thalassemia may include, bone deformities, especially in the face, extreme fatigue, delayed growth and development, shortness of breath, and yellowing of the skin (jaundice). For those with the minor form of alpha or beta thalassemia, red blood cells tend to be smaller than average, but there are typically no other symptoms.

Thalassemia Causes

Thalassemia is caused by mutations in the DNA of cells responsible for producing haemoglobin, the protein in red blood cells for carrying oxygen throughout the body. These mutations are inherited, meaning they are passed from parents to children.

Haemoglobin consists of two types of protein chains: alpha and beta. When mutations affect these chains’ production, it results in alpha or beta-thalassemia. The alpha thalassemia’s severity relies on the number of mutated genes inherited from each parent. The more number of mutated genes a person has, the more extreme their symptoms will likely be.

In beta thalassemia, symptom severity depends on which specific part of the haemoglobin molecule is affected by the mutation. The type and extent of gene mutations determine the severity of thalassemia and the specific symptoms an individual may experience.

Thalassemia Diagnosis and Tests

Moderate to severe thalassemia can be diagnosed in early childhood, as symptoms appear within the first two years. To diagnose this disease, healthcare providers may conduct several blood tests, including:

Complete Blood Count (CBC) Test: It measures haemoglobin levels and the number and size of red blood cells. Individuals with thalassemia typically show fewer healthy red blood cells, lower haemoglobin levels, and smaller-than-normal red blood cells.

Iron Studies Tests: They help distinguish between iron deficiency anaemia and thalassemia, as both can cause low haemoglobin but require different treatments.

Reticulocyte Count Test: It measures the number of young red blood cells in the blood, helping determine whether the bone marrow is producing red blood cells at a normal rate. Haemoglobin

Electrophoresis Test: It is commonly used to diagnose beta-thalassemia by identifying abnormal forms of haemoglobin.

Genetic Testing: It can confirm a diagnosis of alpha thalassemia by identifying specific gene mutations.

Thalassemia Treatment and Medication

Treatment for thalassemia often depends on its severity. For thalassemia major, the main treatments are blood transfusions and iron chelation therapy.

Blood transfusions restore healthy red blood cells and haemoglobin levels. Patients with moderate to severe thalassemia typically require transfusions every four months, while those with beta-thalassemia major may need them every two to four weeks. Some patients with haemoglobin H disease or beta thalassemia intermediate may need occasional transfusions, especially during infections or other health stresses.

Frequent blood transfusions can lead to iron overload, which can damage organs. Iron chelation therapy removes this excess iron. This therapy is often taken in pill form to prevent complications from iron buildup. Folic acid can support the production of healthy blood cells, providing an additional boost in managing anaemia.

Bone marrow and stem cell transplant is the only potential cure for thalassemia. A compatible donor, typically a close family member must have matching human leukocyte antigens (HLA). During the transplant, stem cells from the donor’s bone marrow are injected into the recipient’s bloodstream, where they begin producing healthy blood cells within a month.

Luspatercept is an injectable medication, given every three weeks, that helps the body produce more red blood cells. It is approved for treating beta-thalassemia in patients who require regular transfusions.

Preventive Measures for Thalassemia

Thalassemia cannot be prevented, but genetic testing can identify whether you or your partner carry the gene associated with the condition. Understanding this information can assist you in planning your pregnancy if you intend to conceive. In case you suspect that you or your partner may have gene mutations related to thalassemia, consider speaking to a genetic counsellor for guidance on family planning.

Myths and Facts Related to Thalassemia

Following are some myths and facts associated with thalassemia:

Myth 1: Thalassemia Carrier Couples Will Always Have Children with Thalassemia Major
Fact: When both parents are thalassemia carriers, there is a 25% chance their child will have thalassemia major, a 50% chance of having a child with thalassemia minor, and a 25% chance of having a child without thalassemia (neither a carrier nor affected). If only one or neither partner is a carrier, there is no risk of having a child with thalassemia major.

Myth 2: Thalassemia Patients are Always Exhausted and Lack Energy
Fact: With proper medical care, individuals with thalassemia can manage fatigue associated with anaemia and lead active, fulfilling lives. Many patients achieve normal, healthy lifestyles and succeed in various fields, including business, engineering, law, fine arts, and more.

Myth 3: There is No Effective Treatment for Thalassemia
Fact: With advanced treatments like regular blood transfusions and iron chelation therapy, people with thalassemia can enjoy long, healthy lives. These treatments can be costly, but increased awareness and blood donation efforts help ensure access to necessary care for patients.

Myth 4: Thalassemia Affects Only a Few Ethnic Groups
Fact: Regardless of race or ethnicity, thalassemia can affect anyone. Nevertheless, it is more common in certain regions, such as the Mediterranean, Middle East, and Southeast Asia, where the carrier gene is more prevalent.

Myth 5: It is Risky to Marry Someone Who Carries The Thalassemia Gene
Fact: People with this disease can marry anyone. Couples where both partners are carriers can undergo genetic testing to understand their risk of thalassemia and may opt for prenatal testing within 8-10 weeks of pregnancy to check if their baby is affected.