Ever come across a disease condition, where the most required intervention ( blood transfusion) even endangers the patient more than the disease itself? Yet without this intervention, the patient might die? This disease condition is Thalassemia; a very wearisome inherited blood disorder that plagues unborn babies as well as born babies and children. On the flip side, thalassemia tends to prevent patients against a blood-borne parasitic disease; malaria.


Thalassemia is a genetic disorder of the blood that is marked by the decreased production of hemoglobin. Hemoglobin is a protein pigment inside red blood cells that transport oxygen from the lungs to the rest of the body. Thalassemia according to studies, is the world’s most common blood disorder with a rapidly increasing incidence rate. 7% of the population worldwide is the carrier of this disorder. Also, 400 000 babies with severe forms of Thalassemia are born each year across the world.
In addition, 50% of the Sub Saharan African population have the alpha thalassemia major
In Ghana, it is estimated that 26% -33% of the population is affected by alpha major thalassemia.

In certain instances, all types of thalassemia can be fatal depending on the extent to which the genes are mutated (altered). Unfortunately, beta thalassemia is responsible for 50 000 to 100 000 deaths in children under the age of 5 in low and middle-income countries. It is, therefore, recommended that more attention is given to patients with Thalassemia in order to avoid such unfortunate occurrences.


As an inherited disease, the risk factors of thalassemia can be narrowed down to;

• Family history — a person with a family history of Thalassemia is likely to be affected by it. There is a possibility, an individual will inherit thalassemia genes from either one parent or both parents.

• Race — Thalassemia is most prevalent amongst people of Southern Asian, African, Italian and Middle Eastern backgrounds.


Hemoglobin comprises two distinct pairs of globin (protein ) chains; two alpha globin chains coupled with either two beta chains or two gamma chains. However, in the case of thalassemia, the focus is mainly on the alpha and beta globin chains. Moreover, these globin chains are regulated by specific genes(DNA) that ensures its optimal function. If by any chance these genes mutate (malfunction), it results in the deficiency of one or more of the globin chains. When this happens, fewer healthy red blood cells are produced. This further leads to a disease complication known as anemia (fewer cells in the blood).


To understand the types of thalassemia, we must first know that, four specific genes regulate the production of alpha globin chains. Also, two specific genes are responsible for the regulation of beta globin chains in the hemoglobin. However, for some reasons, one or more of these genes get damaged leading to the various types of Thalassemia.

The are two main types;

1. Alpha thalassemia

This occurs when any of the four genes responsible for the production of alpha globin chain gets damaged.
When one gene is damaged, a person is known to be an alpha thalassemia silent carrier. Such a person may not show visible signs or symptoms.
Furthermore, when two genes are damaged, a person is known to be a carrier of alpha thalassemia. In addition to this, such a person may exhibit mild symptoms of anemia.
Also, when three genes are destroyed, a person will have a condition known as hemoglobin H disease. This relatively is more severe than the above two; such a person may show moderate to severe symptoms of anemia along with feverish symptoms.
Lastly, when all four genes are destroyed, a person will have a condition called alpha thalassemia major. This is the severest form and often leads to stillbirth and other maternal complications.

2. Beta thalassemia

This occurs when any of the two genes involved in the regulation of the beta-globin chain is damaged.
When a single gene is damaged, one is known to have a beta thalassemia minor or trait. Such an individual will show little to no symptoms. However, there is a 50% chance of passing the trait on to their children.
Again, when all two genes are destroyed, an individual will have a disease called beta thalassemia major ( Cooley’s anemia). Beta thalassemia major is considered one of the most dangerous health condition. It is also the commonest amongst all hemoglobin disorders. This condition affects the patient’s health as well as put the families of the patient in a vulnerable emotional, behavioural and psychological state.
Other forms of beta thalassemia include thalassemia intermedia and thalassemia minima.


The symptoms of thalassemia manifest differently in different people. Some of these include;
• Breathing difficulties
• Retarded growth
• Signs of anemia( pale/yellow skin, fatigue, dizziness)
• Weak bones
• Signs of infection
• Enlarged organs
• Fast heartbeat

The symptoms are based on the types of Thalassemia that a person inherits.


Genetic screening — this is usually done to avert prevent the birth of an affected baby or to come up with early treatments.

Blood test — this is done to check for the volume of blood cells present in the blood.

Hemoglobin electrophoresis — this is used to check out for the types of hemoglobin as well as abnormal ones.


Thalassemia is a blood disorder, because of this, it has the tendency to affect any organ. The complications of thalassemia are mainly associated with the severe forms of thalassemia (thalassemia major).

They are as follows;

Iron overload ( accumulation of excess iron in blood)

Stunted growth

Heart diseases

Bone deformities

Enlarged spleen

Prolonged liver inflammation (chronic liver hepatitis)





Treatment and other inventions would be effective if preventive measures such as genetic counseling and screening are initiated in the early stages. Most of these treatments are administered to combat the underlying complication of thalassemia.

Patients with the minor traits of either beta-thalassemia or alpha-thalassemia do not require any active treatment because they are mostly asymptotic.

• Bone marrow transplants
• Blood transfusion
• Iron Chelation therapy
• Immunization measures
• Folate and vitamin C supplements
• Spleen removal

Blood transfusion increases the levels of iron in the blood leading to the complication of iron overload. On the other hand, iron overload has been shown to damage many organs in the body. Also, it is reported that people suffering from thalassemia absorb too much iron from ingested food. This implies, they already suffer from iron overload even without blood transfusion. Iron Chelation therapy is given along with blood transfusion to remove excess iron from the blood.