Short Description

The genetic disorder is due to the mutation of a single nucleotide, from a GAG to GTG codon on the coding strand. In people heterozygous for HgbS (carriers of sickling haemoglobin), the polymerisation problems are minor, because the normal allele is able to produce over 50% of the haemoglobin. In people homozygous for HgbS, the presence of long-chain polymers of HbS distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries.

PreTest Information

Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.

Detail Description

Sickle Cell Anemia Mutation Detection Test: Symptoms, Diagnosis, and Cost

Sickle cell anemia is a genetic disorder that affects the shape of red blood cells, causing them to become sickle-shaped. This can lead to a variety of complications, including pain, infections, and organ damage. The sickle cell anemia mutation detection test is a diagnostic tool used to identify the presence of the genetic mutation that causes this condition.

Symptoms of Sickle Cell Anemia

The symptoms of sickle cell anemia can vary depending on the severity of the condition. Some people may experience mild symptoms, while others may have more severe complications. Some common symptoms of sickle cell anemia include:

• Painful episodes called sickle cell crises
• Fatigue
• Jaundice
• Swelling in the hands and feet
• Infections
• Delayed growth and development in children
• Vision problems
• Organ damage

Diagnosis of Sickle Cell Anemia

The sickle cell anemia mutation detection test is one of the most common ways to diagnose this condition. This test looks for the presence of the genetic mutation that causes sickle cell anemia. It can be performed on a blood sample or a sample of amniotic fluid during pregnancy.

In addition to the mutation detection test, doctors may also perform a physical exam and order other tests to help diagnose sickle cell anemia. These tests may include:

• Complete blood count (CBC)
• Hemoglobin electrophoresis
• Reticulocyte count
• Bilirubin test

Cost of the Sickle Cell Anemia Mutation Detection Test

The cost of the sickle cell anemia mutation detection test can vary depending on the location and the healthcare provider. In India, the cost of this test is typically around INR 4500. However, the cost may be higher or lower depending on the specific provider and any additional tests that are ordered.

Conclusion

The sickle cell anemia mutation detection test is an important diagnostic tool for identifying the genetic mutation that causes this condition. If you are experiencing symptoms of sickle cell anemia, it is important to speak with your healthcare provider about getting tested. With early diagnosis and treatment, people with sickle cell anemia can lead healthy and productive lives.

The genetic disorder is due to the mutation of a single nucleotide, from a GAG to GTG codon on the coding strand. In people heterozygous for HgbS (carriers of sickling haemoglobin), the polymerisation problems are minor, because the normal allele is able to produce over 50% of the haemoglobin. In people homozygous for HgbS, the presence of long-chain polymers of HbS distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries.