Thalassemia is a group of inherited conditions of the blood that is marked by reduced production of hemoglobin and red blood cells in the blood. In this condition, the patients cannot produce even little hemoglobin in the body to carry oxygen from the lungs to different parts of the body. This makes them anemic.1 There are two types of thalassemia one is alpha and another is beta thalassemia based on the affection of type of globin part of the hemoglobin. Alpha thalassemia is not so severe one as beta thalassemia.2
Is Alpha Thalassemia Serious?
Alpha thalassemia is a type of thalassemia which is characterized by the deletion of genes coding alpha globin part of hemoglobin. It can represent mild or severe symptoms. Alpha thalassemia major is a most serious and life-threatening type of alpha thalassemia among other types of alpha thalassemia.3
There are two types of thalassemia, alpha or beta according to the affection of type of globin chain in the body. Alpha thalassemia is a less severe form of thalassemia than beta thalassemia.
In this type of thalassemia, four defective genes are inherited from the parents, two from mother and another two from father. It affects mostly people belonging to Southeast Asian, Chinese, Indian, or Filipino descent. It has a mutation on the 16th chromosome as the alpha genes responsible for the production of hemoglobin are deleted, mutated or missing. This disease is also called hemoglobin H disease due to missing genes.4
Chances of developing thalassemia depend on how many defective genes are passed to the children-
- If one gene is passed, then the children born are a carrier of the disease but they will not have any sign or symptoms of the disease. This condition is called silent alpha thalassemia carrier.
- If two genes are passed to the children, then they will show mild symptoms. This condition is called alpha thalassemia minor or trait.
- If three genes are passed to the children, then they will represent moderate to severe symptoms of the disease. This condition is called hemoglobin H disease.
- If all the four genes are passed, the child will have severe symptoms and will not survive long. This condition is called alpha thalassemia major.5
There are two main types of alpha thalassemia –
Alpha Thalassemia Minor. In this condition, two alpha genes are missing or deleted. This condition is also called alpha thalassemia trait as the patient only carries the defective genes. They have few mild symptoms of the disease. The red blood cells formed in the body are smaller in size than normal and represent mild anemia.
Alpha Thalassemia Major. This condition is also called hydrops fetalis. This is a most serious type of alpha thalassemia that may cause life-threatening consequences and death. It develops in babies which may cause premature death or death soon after the delivery. If it is diagnosed prenatally, then early treatment can save the life of the baby and he can survive long.6
The symptoms of alpha thalassemia are-
- Yellow discoloration on the skin
- Extreme fatigue and weakness
- Shortness of breath
- Feeding problems
- Slow growth
- Facial deformities
- Swelling in the abdomen
- Dark urine.7
Thalassemia is a genetic blood disorder which disturbs the levels of red blood cells and hemoglobin in the body. It leads to low production of red blood cells or hemoglobin in the blood higher than the normal. It results in anemia in the body. This disease is inherited from the carrier or deceased parents. A thalassemia patient has two or more defective genes. The thalassemia carrier is also known as thalassemia trait or thalassemia minor that has no direct impact on the health. If both the parents are thalassemia carrier, then there is a possibility that the child born to them will have severe thalassemia.