What is PCR test for thalassemia?

What is PCR test for thalassemia?

Polymerase chain reaction (PCR) diagnosis of thalassemia usually relies on using genomic DNA. Preparing the genomic DNA can lead to sample-to-sample contamination. This report was aimed to establish the PCR protocol using whole-blood for detecting mutations of α- and β-globin genes causing the thalassemia syndrome.

What is deletion alpha thalassemia?

Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries.

Which types of mutations are common in alpha thalassemia?

The most common alpha-thalassemia mutations in the world are the 3.7 single-gene deletions. While α+-thalassemia is caused by single-gene deletions (such as 3.7 and 4.2), α0-thalassemia is caused by double-gene deletions (such as -20.5, SEA, MED, THAI, and FIL).

Is there a genetic test for alpha thalassemia?

DNA testing. In a pregnant woman, the baby is diagnosed using CVS (chorionic villus sampling) or amniocentesis. A DNA test is needed to make a diagnosis of alpha thalassemia.

What is thalassemia test called?

If a doctor suspects thalassemia, you’ll take blood tests. One is a CBC (complete blood count) test. The other is a hemoglobin electrophoresis test.

What is DNA analysis for thalassemia?

DNA testing is the only way to determine silent alpha thalassemia trait and the related hemoglobin trait called hemoglobin Constant Spring. DNA testing may also be necessary in order to allow for the option of prenatal testing.

Is alpha thalassemia common?

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.

Where is alpha thalassemia most common?

Alpha thalassemia is found in most populations worldwide, but is most common in the Middle East, Southeast Asia, and certain Mediterranean countries. Hb Bart’s hydrops fetalis and HbH disease are primarily recognized in Southeast Asia.

Where is alpha thalassemia common?

What tests detect thalassemia?

If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

What blood tests detect thalassemia?

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.