Thalassemia is a genetic blood disorder which disturbs the levels of red blood cells and hemoglobin in the body. It leads to the destruction of red blood cells or hemoglobin in the blood higher than the normal. The patient with thalassemia suffers from symptoms like extreme weakness, fatigue, tiredness, dark urine and many others. The disease is caused due to the inheritance of defective genes from the parents. The parents can be either a carrier or a thalassemia patient themselves.1
What Does It Mean To Be A Thalassemia Carrier?
Thalassemia is a genetic disease characterized by low production of hemoglobin and red blood cells in the body. In this condition, 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 is responsible for carrying oxygen from the lungs to different parts of the body. This thereby results in anemia in the body. Anemia is a condition in which there is a lack of healthy red blood cells in the body.2
Thalassemia occurs due to the inheritance of defective genes from one or both parents or by mutation of genes. The parent can be a carrier or a patient of the disease. It depends on the number of defective genes inherited from the parents.
Thalassemia carrier is an individual who has one mutated gene that codes information for the normal production of red blood cells. 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.3
The thalassemia carrier does not have the symptoms of the disease. They live a normal life without any physical or mental affection. They do not require any special diet or medical treatment. The carriers do not develop the disease over time. Most of them do not know that they are carriers of thalassemia until they are tested accidentally. In rare cases, the carrier may develop mild anemia that is wrongly diagnosed as a patient of iron deficiency anemia. It can be confirmed by laboratory tests.4
A woman who is a thalassemia carrier can conceive normally but she might have to take more iron supplements than normal during pregnancy. He or she can also donate blood to others if they have the international criteria of normal levels of hemoglobin. They can also donate stem cells or bone marrow to their deceased sibling.
The major issue with thalassemia carrier is that if both the parents are carriers, then there is 25% chance of having a child born with thalassemia major from each pregnancy. The chances of thalassemia can be understood from the following points-
If one parent is a thalassemia carrier and other is normal, then their child will not have thalassemia major. There is a possibility that their child can be a carrier of thalassemia.
The child may also be free from the disease and trait.
If both the parents have thalassemia trait, then one in four children (25%) born to them can have thalassemia major. One in two children (50%) will be a thalassemia carrier. One in four (25%) will be completely free from the disease and is not a carrier also.5
The thalassemia carrier should enroll themselves in thalassemia prevention programs to check any possibility of having children with thalassemia major.6
Conclusion
Thalassemia is a one of blood disorder inherited from the parents marked by a deficiency of hemoglobin and red blood cells in the body. This disease is inherited when one or both the parents are carriers or thalassemia. A thalassemia carrier is a person who carries defective genes but they have very few or no symptoms of the disease.
- https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995#:~:text=Overview,cause%20anemia%2C%20leaving%20you%20fatigued.
- https://en.wikipedia.org/wiki/Hemoglobin
- https://www.nhs.uk/conditions/thalassaemia/carriers/
- https://www.tandfonline.com/doi/pdf/10.1179/102453309X439791
- https://www.cdc.gov/ncbddd/thalassemia/facts.html#:~:text=Thalassemia%20is%20an%20inherited%20(i.e.,part%20of%20red%20blood%20cells.
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552345/#:~:text=These%20comprehensive%20programs%20involve%20carrier,mutations%20that%20increase%20fetal%20productions.
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