Thalassemia is a group of genetic diseases that affect blood by reducing the count of red blood cells and hemoglobin in the body. It is marked by defective production of red blood cells and hemoglobin due to which transport of oxygen from the lungs to the other parts of the body is hampered. It is inherited from one or both the parents who carry the defective genes or who are suffering from the disease. Its symptoms include jaundice, extreme tiredness, dark urine and many others.1
What Is The Difference Between Thalassemia Minor And Major?
Thalassemia minor and thalassemia major are the forms of beta thalassemia. Thalassemia minor is a mild form of the disease in which the patient inherits only one mutated gene and act as a carrier. Thalassemia major is a severe form of the disease that can cause serious illness.2
Thalassemia is a group of genetic blood disorders that is characterized by destruction of red blood cells and hemoglobin higher than normal. This disease runs in families. The defective genes are passed to the children from their parents. The body is not able to produce sufficient red blood cells as compared to the destruction. This results in a deficiency of hemoglobin in our body. Hemoglobin carries oxygen from the lungs to different parts of the body.
Thalassemia is of two types depending on the type of blood protein (globin part of hemoglobin) affected.
In this type of thalassemia, the production of alpha globin chains is reduced or absent. In this type, 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.3
In this type of thalassemia, the beta globin is absent or not produced in sufficient amount. Only two defective genes are inherited from the parents, one from each parent. It occurs in people from the Mediterranean, Asian or African descent.4
There are two forms of beta thalassemia-
Thalassemia Minor. The condition in which a person inherits one defective gene from either of carrier parents is termed as thalassemia minor. This person is termed as heterozygous for beta thalassemia. He may have no symptoms or mild symptoms of anemia. This condition is very similar to mild iron deficiency anemia. However, a person with thalassemia minor has normal levels of iron. It is not a serious form of the disease. The patient may not require any treatment. He usually lives a normal life.
A thalassemia minor patient can have iron deficiency anemia due to other reasons.5
Thalassemia Major or Cooley’s Anemia. In this form of beta thalassemia, two defective genes are passed to the child and the child has no normal beta.chain gene. He is termed as homozygous for beta thalassemia. There is the deficiency of beta globin production in the body which leads to significant illness. It is named Cooley’s anemia after its founder Dr. Thomas Cooley.6
The child born with thalassemia major has no symptoms of the disease after birth as fetal hemoglobin does not require beta globin at that time. As the child grows, the requirement of beta globin increases and the symptoms of anemia begin to appear within a few months after birth usually before his second birthday. The child may develop problems related to feeding due to lack of oxygen in the body. He may have retarded physical growth. He may suffer from fever, jaundice, poor appetite, enlarged organs, diarrhea, and other abdominal ailments. It is a most serious form of thalassemia that can threaten life. It sometimes becomes so severe that regular blood transfusion is needed.
Thalassemia Intermedia. It is a less serious type of beta thalassemia. It is caused by changes in both beta globin genes of hemoglobin. It does not require a blood transfusion.7