What is Thalassemia?
Thalassemia is an inherited autosomal recessive blood disorder that is originated from Mediterranean region. It is otherwise known as Mediterranean anemia. It is caused by variants or missing genes that affect how the body makes hemoglobin. As this disease is inherited, meaning that at least one of the parents must be a carrier of the disease for the person to have thalassemia.
For your information, hemoglobin is a protein in the red blood cells which is responsible to carry oxygen. It is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.There are 2 main forms of Thalassemia: Alpha-thalassemia .and Beta-thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected. This mutated forms of hemoglobin is easily destructed in the blood circulation,thus leads to anemia (lack of red blood cells)
These alpha & beta- thalassemia can further be classified to thalassemia major and thalassemia minor. For a person to has thalassemia major,she/he must inherit the gene defect from both parent. This is a severe form of thalassemia, in which the person requires regular and almost monthly blood transfusion. Whereas,the thalassemia minor occurs if he/she receives the faulty gene from only one parent. So this person is known as thalassemia carrier and most of the time,he/she does not have symptoms.
Symptoms and signs of thalassemia
Patient with beta-thalassemia major usually presented with severe anemia during the first year of life. They are usually normal at birth due to the presence of fetal hemoglobin, which subsequently reduced at the end of 6 months old.
- However, during the first year or two of life, they become pale and fussy with poor appetite. They grow slowly and often develop jaundice (yellowing of the eyes and skin). Without treatment, they will develop an enlarged spleen and liver, thinning bones that break easily, abnormal facial bones, frequent infections and heart problems, and they die in the first decade of life.
- When detected early, the affected children will require regular blood transfusions and folate supplementation lifelong as the treatment. Bone marrow transplants promise cure to patients with beta-thalassemia major. However, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor. The transplant procedure itself is still risky and can result in death.
Alpha thalassemia major is the most severe form of thalassemia. It occurs when there are no alpha globin genes.This is also known as hydops fetalis. It occurs before birth, and most fetuses with this condition are either stillborn or die shortly after being born.
However,patient with alpha and beta-thalassemia minor/trait usually have no symptoms, though some may have mild anemia. Affected individuals can pass the abnormal gene on to their offspring.
Why thalassemia is a preventable disease?
As we all know, children with thalassemia are born to parents who carry abnormal thalassemia gene in their blood. There are many blood tests and family genetic studies which can show whether an individual has any form of thalassemia. There are also prenatal testing using chorionic venous sampling (CVS) or amniocentesis to detect or rule out thalassemia in the fetus.
However, the best preventive step of all is of course to ensure that all man & women who want to get marry to get themselves tested and screened for thalassemia before getting married. By knowing the genetic testing result,one maybe able to avoid the pitiful consequences
- For example, if the man and woman who plan to get married and do genetic testing and known to be thalassemia carriers, both will have chance to produce a child with Thalassemia Major that is blood transfusion dependent child. Obviously,they can think and decide whether to continue with the marriage or not.
- On the other hand, Thalassemia minor children will be born if one of the parents being a Thalassemia carrier,thus will transfer the abnormal gene to the off spring
- If both man & woman are tested to be free from thalassemia, there is no risk of getting thalassemia kids when they get married
Therefore,it's always wise to decide on correct partner before getting married. Every child inherits genes from mother & father good as well as bad one. Be wise. Preventive is better than cure.