Thalassemia beta mutation study Test

Thalassemia is a serious condition and one that is hereditary; the Thalassemia beta mutation condition relates to various blood disorders including mutation of the HBB gene where your body produces abnormal hemoglobin which causes your RBC to be destroyed, leading to anemia. If you have the following symptoms, then chances are high that you could be suffering from a Thalassemia related blood disorder. Fatigue, Dizziness, Shortness of breath, Cold hands and feet, It is important that you get yourself screened by taking this study at the earliest, especially if your family has a history of inheriting Thalassemia related blood disorders. Your physician will require you to be completely upfront about your family’s medical history to develop a full profile after which he would recommend a Thalassemia beta mutation study.

Your physician will provide you with counselling, so that you can understand that the Thalassemia beta mutation study is more of an advanced screening test, where your doctor can perform a series of tasks from analyzing the hemoglobin HBB gene to sequencing it, to both confirm the diagnosis as well as to identify the scale of the problem. If you have the following symptoms, then chances are quite high that.

You do not require any additional prep for the test itself; you would be required to provide your doctor with blood sample so that he can run his tests, and even sequence the DNA. This is usually done to identify the beta mutation in your blood, and additionally, on confirmation, you may ask your other close family members to get tested for Thalassemia beta mutation as well. Your doctor could run additional tests including osmotic fragility test, as the beta mutation study which includes full gene sequencing can take a while.

This test is mainly used to determine if you have the required beta gene mutation and your physician should be able to provide you with an effective course of treatment for the same.

You would be required to provide a blood sample for the Thalassemia beta mutation study; your doctor would clean the area in question with antiseptic and then use a standard syringe to draw the required amount of blood from your arm (small amount). Once the sample has been retrieved, your physician would then dress up your arm with a bandage and you would be required to apply gentle pressure on the wound to prevent bruising. It will be a while before the test results would be available since you would be running a complete gene sequence. Once the results come back, your doctor would recommend a course of treatment as well as suggest a few changes to your current lifestyle to help you manage your health condition better.