Thalassemia: The Challenge of a Hereditary Blood Disorder in Nepal

 Thalassemia: The Challenge of a Hereditary Blood Disorder in Nepal

Thalassemia is a hereditary blood disease in which the body is unable to produce hemoglobin, resulting in anemia and organ damage.

Thalassemia is a hereditary blood disease. In this disease, anemia occurs when the body is unable to produce hemoglobin, the main protein in red blood cells. This is why various organs of the body are affected. This is a lifelong long-term problem that can seriously affect the physical development, health and overall life of children.

Hemoglobin carries oxygen from the lungs to the rest of the body. Two types of protein chains, alpha and beta, are required for its production. If these chains are not produced enough due to a gene defect, red blood cells are not produced enough, they are destroyed quickly, and the body lacks oxygen. This problem is completely hereditary and is not caused by any other reason.

Thalassemia status in Nepal

Nepal is located in the thalassemia belt, which includes countries in the Mediterranean, South Asia, Southeast Asia, and the Middle East. More than one hundred thousand children are born with thalassemia every year worldwide.

Although there is still no large-scale population-based study in Nepal, the number of patients coming to hospitals is increasing. The disease is more common in the Tharu community and various ethnic groups, but is now gradually being found in other communities as well.

Many patients come from rural areas. Due to lack of awareness, poor economic conditions, and lack of treatment facilities, many children do not receive proper treatment on time.

Main types and symptoms

Thalassemia is mainly divided into two parts, alpha and beta thalassemia. Beta thalassemia is more common in Nepal. It can be further understood in three forms:

Thalassemia minor (carrier) usually does not show any major symptoms or only has mild anemia. Thalassemia intermedia is moderate, while thalassemia major is the most severe form.

Symptoms in children with Major type usually begin to appear between 3 and 6 months of age. The child stops feeding well, becomes irritable, has yellow skin (jaundice), gets tired easily, and has an increased heart rate. Over time, problems such as bone pain, weakness, swelling of the front of the head, sagging cheeks, bloating, and swelling of the liver and spleen occur.

Excessive iron accumulation can cause heart, liver, thyroid, diabetes, and hormone-related problems. The child develops slowly, is short, and puberty is delayed.

Diagnosis

A complete blood count is first performed for diagnosis, which shows low hemoglobin and small blood cell size. Then a peripheral blood smear and mainly hemoglobin electrophoresis or HPLC are performed. Genetic testing can also be done if necessary. Electrophoresis should not be performed immediately after a blood transfusion because the results may be inaccurate.

Treatment method

Regular blood transfusion is the main treatment for patients with thalassemia major. It is best to give only packed red blood cells. Initially, they are given at intervals of two to three months, but later they are needed once a week or two weeks.

Frequent blood transfusions cause excess iron to accumulate in the body, which is called iron overload. To control this, iron chelator drugs

should be taken regularly.

The only complete cure is bone marrow or stem cell transplant. This treatment is very successful in children under five years of age with minimal complications, and the child can lead an almost normal life.

Challenges and prospects in Nepal

Treatment of this disease in rural areas in Nepal is still challenging. The main problems are the lack of regular blood supply, the high cost and unavailability of iron chelator drugs, the old practice of whole blood transfusion, and the lack of specialist services. Good treatment is being provided in some institutions including Bir Hospital, Kanti Children's Hospital, Civil Servants Hospital, and Blood Hospital in Kathmandu, but it needs to be expanded throughout the country.

Prevention is the best way

Thalassemia can be prevented. Before marriage, both parties should get a CBC and, if necessary, a hemoglobin electrophoresis test. Testing is also possible during pregnancy. If both parents are carriers, the risk to the child is 25 percent. Many new cases can be prevented if a screening program is conducted at the community level.

World Thalassemia Day is celebrated every year on May 8. The theme for 2026 emphasizes ‘No longer hidden, but identifying the undiagnosed, supporting the unseen’.

Points to note

Children with thalassemia can lead normal lives with regular transfusions, iron chelation, and good medical monitoring. Timely diagnosis and treatment can save lives. But the most effective step is awareness and prevention.

The burden of thalassemia can be greatly reduced if families, society, and the government work together to make premarital and pregnancy screening widespread. If such symptoms are observed in a child, a pediatric hematologist should be contacted immediately.