How do you test for thalassemia?

How do you test for thalassemia?

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.

1. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.
2. Hemoglobin tests measure the types of hemoglobin in a blood sample.

What is alpha thalassemia rapid screen test?

ALPHA THALASSEMIA MOLECULAR SCREEN (National) The patient should be screened first by requesting a CBC and Hemoglobin Electrophoresis. The molecular test is the follow-up to be performed to confirm Alpha Thalassemia, screening for as many as nine of the most common alpha thalassemia deletions.

How do I know if I have thalassemia alpha or Beta?

If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha thalassemia. Low beta is called beta thalassemia. When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassemia is.

What is the genetic test for thalassemia?

Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

What is thalassemia profile test?

₹1,998 ₹999. This profile helps covers multiple blood test to screen for Thalassemia. It is a blood disorder in which the body makes an abnormal form of hemoglobin.

Does hemoglobin electrophoresis test for alpha thalassemia?

Although hemoglobin electrophoresis is not sensitive enough to diagnose alpha thalassemia syndromes, it can be very useful in quantitating and identifying different hemoglobin types. Hemoglobin Bart’s is elevated at birth in patients with alpha thalassemia.

Can NIPT detect thalassemia?

In summary, we developed and verified PBH-NIPT, a novel method for prenatal testing of α-thalassemia and β-thalassemia. Compared with invasive prenatal diagnosis, this method achieved 99.1% accuracy (95% CI, 95.1–100%).

What is HPLC test in pregnancy?

Hemoglobin (Hb) Electrophoresis by HPLC test measures and identifies different types of hemoglobin in the blood. A human body contains various types of hemoglobin in their blood. With age, the percentage of hemoglobin present in the body changes. Hemoglobin is the protein which is present inside the red blood cells.

How common is alpha thalassemia?

Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia.

What blood tests are done to detect thalassemia?

Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis . This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.

What test may be used for thalassemia?

Some forms of thalassemia may be associated with significant hemolysis. Laboratory testing for thalassemias includes screening and diagnosis via routine blood tests, structural Hb testing (eg, high-performance liquid chromatography [HPLC] or isoelectric focusing [IEF]), and genetic testing.

Is alpha thalassemia life threatening?

Alpha-Thalassemia is one of the two forms of the life threatening blood disease known as Thalassemia. Read on to know all about its various types, symptoms and possible treatment options.

Can you have both alpha thalassemia and beta thalassemia?

Alpha thalassemia means you lack alpha hemoglobin. With beta thalassemia, you lack beta hemoglobin. Your doctor may also talk about thalassemia minor and thalassemia major, or Cooley’s anemia. The minor type is less serious than the major one, and your type won’t change. In some people, symptoms show up at birth.