What is Thalassemia And How to Avoid It?
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or an inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
I know about this because my daughter has been going through this illness for the last 23 years. There is no cure for this. Hence, I want the people of the world to know how we can avoid this altogether.
How can you avoid it?
This deficiency is caused at conception. It is inherited from the parents to the child. It is a genetic disorder. You can avoid this by just doing a simple blood test before you plan for a baby. This test is for the husband and wife both. The test is called haemoglobin electrophoresis. Even if you never had any illness, you could still be a carrier or a trait of thalassemia, which can be detected only by this test. This simple test will save you and your child from a lot of pricks and tears. which my daughter has been suffering with since birth. Because I and my husband are thalassemia trait carriers, (which we never knew before as we never did a test).
Hemoglobin is made of two proteins:
- Alpha globin
- Beta globin
Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.
There are two main types of thalassemia:
- Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
- Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
Alpha thalassemia occurs most often in people from Southeast Asia, the Middle East, China, and those of African descent.
Beta thalassemia occurs most often in people of Mediterranean origin. Chinese, other Asians, and African Americans may also be affected to a lesser extent.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
- Thalassemia major
- Thalassemia minor
You must inherit the gene defect from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.
Beta thalassemia major is also called Cooley anemia.
Risk factors for thalassemia include:
- Ethnicity: Asian, Chinese, Mediterranean, or African American
- A family history of the disorder
The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or in the late stages of pregnancy).
Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life.
Other symptoms that can include:
- Bone deformities in the face
- Growth failure
- Shortness of breath
- Yellow skin (jaundice)
People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Exams and tests
Your healthcare provider will do a physical exam to look for an enlarged spleen.
A blood sample will be sent to a laboratory to be tested.
- Red blood cells will appear small and abnormally shaped when looked at under a microscope.
- A complete blood count (CBC) reveals anemia.
- A test called haemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
- A test called mutational analysis can help detect alpha thalassemia.
Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.
People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.
A bone marrow transplant may help treat the disease in some people, especially children.
Severe thalassemia can cause early death (between the ages of 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia often do not shorten the lifespan.
You may want to seek genetic counselling if you have a family history of the condition and are thinking of having children.
Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.
When to Contact a Medical Professional
Call your provider if:
- You or your child have symptoms of thalassemia.
- You are being treated for the disorder and new symptoms have developed.
Mediterranean anemia, Cooley anemia, Beta thalassemia, Alpha thalassemia
Struggles My daughter has faced
My daughter has been undergoing blood transfusions since the age of 3 months. She is now 22 years old. She is still going through the transfusions every 15 days. She gets iron deposits in her internal organs due to multiple transfusions. She has to infuse a pump with a syringe into her skin layers on her thighs or abdomen daily. This drip needs to be there for 8 hours daily. She does it overnight so that her daily routine is not disturbed. After this, the excess iron in the organs is flushed out by the urine or stools. This process is very slow, and hence has to be done for life.
Also, with this process, vitamins and minerals from the body are flushed out. Hence, she needs to take all kinds of vitamins and supplements to remain healthy. Apart from this, her growth is hampered as well as hormone development is not normal in the body. Hence, hormone balancing medication is given to induce hormone development. which is not very effective, but it helps. Overall, she leads a normal life like us, but for her to do a lot of physical activity is difficult. Getting married is OK as well, but giving birth to a child may cause further complications. She can study and do a job easily, though.
So this is all about Thalassemia. I hope it was informative. If you are looking to conceive, then please do not forget to get the test done as mentioned above. As this will be a life saver for you and the child,
If you like my work, you can follow, leave comments, and also treat me with a coffee.