Thalassemia is an inherited blood disorder associated with mutations in the DNA of cells that produce hemoglobin. The disorder leads to a shortage of hemoglobin, which is a protein found in red blood cells responsible for transporting oxygen. This causes anemia symptoms, like feeling tired or out of breath. As severe forms of the disorder can start damaging organs, it is important to recognize the types, signs, and causes of the condition and seek treatment.

Types
Alpha thalassemia: Here, defects in four genes that produce alpha globin protein chains are inherited. The amount of faulty genes inherited will decide if one has anemia and the severity of symptoms if they do have anemia. Here is how it works:

• One may not experience any anemia symptoms if just one alpha gene is damaged or absent. This form of the disease is also known as alpha thalassemia minima.
• Two faulty or absent alpha genes may lead to mild symptoms. This condition is called alpha thalassemia minor.
• Three damaged or absent alpha genes can lead to a condition called Hemoglobin H disease, which causes mild to severe anemia symptoms.
• Four faulty or absent alpha genes result in the most severe form of the disease. Here, one may require lifelong blood transfusions. This type is called Hemoglobin Barts hydrops fetalis syndrome.

Beta thalassemia: Here, two defective or deficient beta-globin genes are inherited, one from each parent. The number of faulty genes and the location of the deficiency in the beta-globin protein chain determine the severity of anemia symptoms. Here is how this type works:

• If one beta gene is absent or faulty, one may experience minimal anemia symptoms. This condition is called beta thalassemia minor.
• Two defective or missing beta genes can result in thalassemia intermedia, causing moderate to severe symptoms. The severe form here is called Cooley’s anemia, or beta thalassemia major, which requires blood transfusions.

Symptoms
As thalassemia is an inherited disorder, babies carrying the gene can be tested for the condition early on or after they begin to show signs (usually within two years). Symptoms associated with thalassemia can vary based on the type and severity of the condition. However, here are a few common signs one should not ignore:

• Weakness and fatigue
• Pale or yellowish skin
• Deformities in facial bones
• Slow growth
• Swelling in the abdomen
• Dark urine
• Delayed adolescence

It is important to note that those with a single mutated gene may not exhibit any signs of thalassemia.

Diagnosis
As signs of moderate and severe thalassemia typically manifest in the first two years of life, the condition is usually detected in children. To diagnose thalassemia, the healthcare professional may order the following blood tests:

Complete blood count (CBC): This test uses a blood sample to check the number of red blood cells, their size, and hemoglobin content. Those with thalassemia have less than average hemoglobin and fewer healthy red blood cells. Additionally, these cells may be smaller than normal.

Iron tests: This diagnostic test helps doctors determine whether thalassemia or deficiency of iron is the cause of the patient’s anemia symptoms.

Hemoglobin electrophoresis: This method analyses the hemoglobin content in the red blood cells. It usually helps diagnose beta thalassemia

Additionally, while planning to have children, one can undergo genetic testing to check if they carry the mutated gene associated with thalassemia.

Treatment
Mild cases of thalassemia usually do not require treatment. But, when dealing with moderate to severe forms of the condition, the following options help in managing symptoms:

Regular blood transfusions: Blood transfusions, sometimes as often as every few weeks, can be recommended for treating severe cases of thalassemia. This treatment option helps restore normal levels of red blood cells and hemoglobin in the body.

Chelation treatment: Frequent blood transfusions can lead to iron buildup in the bloodstream, which can damage organs over time. Here, chelation treatment can help get rid of excess iron. Sometimes, those with thalassemia may have excess iron without undergoing transfusions.

Stem cell therapy: In certain cases, a bone marrow and stem cell transplant could be the best option. This treatment eliminates the need to undergo lifelong blood transfusions and other management options to deal with excess iron in children with severe thalassemia. Here, the donor’s cells, which have been transplanted, can begin making new, healthy blood cells within a few weeks.

One should consult a doctor and get a diagnosis as soon as they notice any signs of the disorder. However, a precautionary measure here is understanding the family’s medical history while planning for children to see if the condition would be passed on. Getting examined and discussing the family medical history with a doctor can help one understand what to expect if one is carrying a faulty gene responsible for thalassemia.