Thalassemia is a type of blood disease that produces fewer red blood cells and hemoglobin than our normal body. If thalassemia is low in red blood cells and if its size is small then it may be anemia.
Many patients with thalassemia live healthy lives although this may cause some symptoms that may require treatment. Deadly thalassemia may also cause death.
What causes thalassemia?
Thalassemia is a hereditary blood disease. Hemoglobin is a very important component of blood. Hemoglobin is a red-colored and protein-rich substance that has the power of red blood cells.
Hemoglobin provides the supply of oxygen from the lungs to all parts of the lungs and the lungs of carbon dioxide from other parts of the body. There is a defect in the production of these hemoglobin particles transmitting oxygen to the blood through thalassemia.
Hemoglobin is produced by two alpha proteins and two beta proteins. If the production of these proteins decreases, then the production of hemoglobin in the body also decreases and thalassemia occurs.
Alpha and beta proteins are made from genes. The synthesis of the hemoglobin chain of two groups is genetically controlled. Only when a defective genome gets inherited from its parents, thalassemia occurs mainly. So thalassemia is a hereditary disease.
How do I find out if I am a thalassemia carrier?
You’ll already know if you have one of the more serious forms of thalassemia because you’ll have had health problems related to the disease and regular treatments and medication.
However, it’s quite common for people with alpha or beta thalassemia minor not to know they have it, because usually they are only carriers of the mutated gene or genes and have no symptoms. Pregnancy could be when you find out for the first time that you carry a thalassemia gene mutation.
Your midwife will offer you a blood test to find out if you carry a gene for thalassemia before 10 weeks of pregnancy.
Depending on where you live, your midwife or doctor may also ask you to complete a family origin questionnaire. This will be to check if you or your baby’s father are at high risk of carrying sickle cell disease or thalassaemia gene mutations. Sickle cell disease is another kind of genetic blood disorder. Screening in this way helps to identify babies at risk of inheriting thalassaemia or sickle cell disease.
If you have a positive test, tell the rest of your family. One of your relatives may be planning to have a baby and will need to be tested too.
You can ask for a test at any stage, either from your GP, or at a specialist sickle cell and thalassaemia centre.
If you are planning to get pregnant and are worried that you or your partner may be a carrier, talk to your GP before you conceive.
How to know if baby has thalassemia?
If both parents are the thalassemia carriers then they should be tested after pregnancy. By examining that the child is also a disease or patient of the disease If the patient is suffering from Major or Minor Thalassemia The tests that are done in this case are:
Chorionic villus sampling (CVS), sometimes called “chorionic villous sampling” (as “villous” is the adjectival form of the word “villus“), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
Amniocentesis (also referred to as amniotic fluid test) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
Fetal blood sampling is a procedure to remove a small amount of blood from the fetus during pregnancy. … A fetal blood sample may be taken to: Diagnose genetic or chromosome abnormalities. Check for and treat severe fetal anemia or otherblood problems such as Rh disease.