Alpha Thalassemia -HBA1 Deletions Test

ALPHA THAL aka Alpha-Thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes (HBA1 and HBA2). It is a blood disorder that reduces the production of hemoglobin. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. Hb Bart is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before both. It can cause anemia, heart defects and abnormalities of the urinary system or genitalia. The babies are stillborn or die soon after birth and also serious complications for women during pregnancy like high blood pressure in sever conditions. Whereas in HbH disease, moderate anemia, jaundice and bone changes as in overgrowth of bones (mostly upper jaw and forehead) is caused and lives into the adulthood.

There is no special preparation is required as such before ALPHA THAL. You can eat and drink normally. Though, if the blood taken is also to be used for further different tests, the doctor will inform you in prior. In that case, you only need to fast for few hours. Always follow the particular instructions given to you by the lab. A CBC test will be told to be carried out in order and patient’s history for Thalassemia testing will be asked for.

The test is performed to: Confirm a clinical diagnosis of Hb Bart pr Hb H as mentioned above. Confirm the identity of a variant detection by Hb evaluation that may be pathogenic or benign. If the test result is negative, no large alpha globin deletions were detected i.e. risk of ALPHA THAL is reduced but not excluded.

If the result is positive, the patient is predicted to be a silent carrier or has ALPHA THAL trait or is affected with Hb H disease or is consistent with the Hb Bart hydrops syndrome or an extra functional alpha-globin gene is present.

2 milliliters of blood sample would be obtained directly from you. ALPHA THAL can be done at numerous sites like the doctor's clinic, test center or at a pathologist’s.
• An alcohol pad is used to clean the skin.
• A needle is then injected through the part of rinsed skin into to your vein; specifically in the one that can be seen from the skin.
• The blood is dragged out from the needle by a nozzle, saved in a lavender top tube and sealed with your name.
• This sample is carried to the research laboratory where the process of Polymerase Chain Reaction and Gel Electrophoresis is carried out.