Short Description

Prenatal Delta Beta- Thalassaemia mutation screening is performed using End Point PCR methodology. Sample that have to be given is Amniotic fluid/ Chorionic villi/ Peripheral blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer for this test. You can expect results in 5-6 days

PreTest Information

Prenatal Delta Beta- Thalassaemia mutation screening can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Prenatal Delta Beta-Thalassaemia Mutation Screening Cost INR:7500 Symptoms Diagnosis

Delta Beta-Thalassaemia is a genetic blood disorder that affects the production of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. It is caused by mutations in the HBB gene, which provides instructions for making beta-globin, a component of hemoglobin.

Individuals who inherit two copies of the mutated HBB gene, one from each parent, will develop Delta Beta-Thalassaemia major, which is a severe form of the disease. Symptoms typically appear within the first two years of life and include anemia, fatigue, weakness, and jaundice. Without treatment, this condition can lead to life-threatening complications, such as heart failure and severe infections.

On the other hand, individuals who inherit one mutated HBB gene and one normal HBB gene are carriers of Delta Beta-Thalassaemia. They do not usually have any symptoms, but they can pass the mutated gene on to their children.

Diagnosis of Delta Beta-Thalassaemia

Delta Beta-Thalassaemia can be diagnosed through a blood test that measures the amount of hemoglobin in the blood and identifies any abnormal hemoglobin variants. If a person is suspected of having Delta Beta-Thalassaemia, additional tests, such as genetic testing, may be performed to confirm the diagnosis and determine the specific mutation present.

Prenatal Screening for Delta Beta-Thalassaemia

Individuals who are carriers of Delta Beta-Thalassaemia and their partners have a 25% chance of having a child with Delta Beta-Thalassaemia major. Prenatal screening can be done to determine if a developing fetus has the condition.

Prenatal screening involves collecting a sample of the amniotic fluid or placenta and analyzing the DNA for mutations in the HBB gene. This can be done as early as the 10th week of pregnancy. If the fetus is found to have Delta Beta-Thalassaemia major, the parents can decide whether to continue the pregnancy or terminate it.

Cost of Prenatal Delta Beta-Thalassaemia Mutation Screening

The cost of prenatal Delta Beta-Thalassaemia mutation screening in India is approximately INR 7500. This cost may vary depending on the specific testing method used and the laboratory conducting the test.

Conclusion

Delta Beta-Thalassaemia is a genetic blood disorder that can have serious health consequences if left untreated. Prenatal screening can help identify fetuses with Delta Beta-Thalassaemia major, allowing parents to make informed decisions about their pregnancy. The cost of prenatal Delta Beta-Thalassaemia mutation screening in India is relatively affordable, making it accessible to more individuals.

If you suspect that you or your partner may be a carrier of Delta Beta-Thalassaemia, or if you have a family history of the condition, it is important to speak with a healthcare provider about genetic testing and prenatal screening options.