Thalassemia word you heard from the doctor or any other source are you curious to get what exactly thalassemia is how bad it can impact your health and how you can prevent it.
So I’ll explain to you in-depth what is thalassemia is? what precaution need to make sure.
What is Thalassemia?
Thalassemia is a disorder or condition where hemoglobin formation is not proper what the body exactly needs to have it for proper functions.
This even can cause anemia if the blood formation is not adequate.
This disease has mostly inherited in this case, either parent or genetic mutation is responsible for this.
Types of Thalassemia
Thalassemia is consists of major two different types, Hemoglobin carries two types of protein like Alpha and Beta.
- Beta- Thalassemia
Alpha-Thalassemia has furcated further down
Alpha Thalassemia Trait
Alpha Thalassemia Trait is the condition where the patients have smaller red blood cells. There are 4 different types of alpha thalassemia. In this case, alpha protein is not adequate. There are no specific symptoms shows.
Hemoglobin H Disease
Hemoglobin H disease is the condition where the formation of alpha protein is more than normal. There is a high chance of having alpha thalassemia. Blood transfusion mostly needed
Hemoglobin H-Constant Spring
Hemoglobin H-Constant Spring is more serious than Hemoglobin H Diseases. These conditions occur when one normal alpha gene has been inherited.
Homozygous Constant Spring
Homozygous Constant Spring occurs on patients when it is inherited from parents like One will be H-Constant Spring and others will be having Alpha thalassemia major.
Alpha Thalassemia Major
Alpha Thalassemia Major in this case alpha gene is not present in DNA. This also called Hemoglobin Bart’s Hydrops Fetalis. This extremely severe conditions where patients require life long blood transfusion.
Beta-Thalassemia is a condition where hemoglobin not able to produce enough beta protein. It is furcate further down.
Thalassemia Minor is the condition where the beta-protein formation is not too low. It very hard to indicate the problem exists because it does not show any kind of symptoms.
Thalassemia Intermedia patient is not able to produce enough beta Hemoglobin. This trait of a person does not require regular transfusion.
Thalassemia Major is the most severe condition where the formation is too low. It is also called cooley’s Anemia. The person needs a frequent blood transfusion
There are several kinds of symptoms that occur in Thalassemia it depends upon the severity of cases, sometimes even symptoms do not show.
- Slow growth
- Abdominal swelling
- Bone deformities
- Symptoms of anemia
- Enlarged spleen
Causes of Thalassemia
People facing two kinds of thalassemia problem Alpha Thalassemia and Beta Thalassemia.
Hemoglobin is made up of two different components alpha-globin and beta-globin.
The HB1 and HB2 instruction required to form alpha-globin and HBB require for beta-globin.
HB1 and HB2 Each person has two copies of these genes one from father and second copies from mother.
Alpha thalassemia cause when HBA1 and HBA2 are not found in Hemoglobin due to some deletion of genes
.HBB cause when beta-globin is not found.
To Diagnose thalassemia a person needs to first check up blood including Complete blood count (CBC) and special hemoglobin test after doctor’s advice.
If a person having thalassemias then the report will show a low count of hemoglobin and less healthy red blood cell.
People who having alpha or beta-thalassemia their blood cell size are smaller than normal.
Genetic Studies can also help in thalassemia because it is inherited diseases that passed from parents to child’s
Suppose you expecting a baby first consult with the doctor. If you or your partner having thalassemia.
Thalassemia treatment depends upon the severity of cases because these diseases are inherited from parents to the child or mutation of the gene.
Usually, the person who has mild or no symptoms of alpha or beta-thalassemia is less chance to take medication.
In moderate or severe cases, doctor use three standards way of treatments are as follows
- Blood Transfusion
- Iron Chelation Therapy
- Folic Acid Supplements
Last option Bone Marrow Transplant
Blood Transfusion:- A blood transfusion can help you to receive healthy blood cells. The patient needs to re-transfusion after 120 days. If a person has beta-thalassemia they likely need to re-transfusion between 2 to 4 weeks.
Iron Chelation Therapy:- Iron Chelation Therapy is used to remove the excess of iron from the body. The regular blood transfusion led to store iron in the body, which can damage body parts like heart, liver, etc.
Folic Acid Supplements:- Folic acid supplement will prescribe by the doctor. This will build healthy red blood corpuscles.
Bone Marrow Transplant:- A Doctor will replace damaged bone marrow from the patients with healthy bone marrow stem cells. There are three kinds of transplants are
- Autologous bone marrow transplant
- Allogeneic bone marrow transplant
- Umbilical cord blood transplant
Thalassemia is a disease that is mostly inherited from parent to child or mutation of the genes. Thalassemia has two types Alpha and Beta Thalassemia.
Beta thalassemia is a very common blood disease worldwide. Before expecting a baby, The carrier of thalassemia should consult with the doctor,
This problem cannot be cured completely but treatment can help and If you any kind of difficulty always consult with your doctor.