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	HbE Mutation Analysis (Glu-26-Lys)

HbE Mutation Analysis (Glu-26-Lys)

Hemoglobin E (HbE) is an abnormal form of hemoglobin, a protein found in red blood cells responsible for transporting oxygen throughout the body. The HbE variant arises from a specific mutation (Glu-26-Lys) in the beta-globin gene, changing the normal structure and function of the hemoglobin molecule.

  • Test Name HbE Mutation Analysis (Glu-26-Lys)
  • Sample Type Blood
  • Preparations Required No specific preparation or fasting is required for this test.
  • Report Time 7 days

The HbE mutation is common in Southeast Asian populations, including those from Thailand, Cambodia, and Laos. It can cause mild hemolytic anemia and microcytosis (small red blood cells), but generally leads to few health problems unless compounded with other hemoglobin disorders like beta-thalassemia.

The HbE mutation analysis is a genetic test that identifies the Glu-26-Lys mutation responsible for HbE. It assists in diagnosing the disease, informing prognosis, guiding treatment, and advising on family planning decisions.

Home Sample Collection Process

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Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
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Frequently Asked Questions

HbE mutation analysis is important as it helps in diagnosing HbE disease and HbE beta-thalassemia, determining the severity of the disease, and guiding appropriate management and treatment.

No, fasting is not necessary for the HbE mutation analysis.

No specific preparation is needed for the HbE mutation analysis.

This test may be recommended if you have a family history of HbE disease or if you or your child exhibit symptoms such as unexplained anemia or an enlarged spleen.

The HbE mutation analysis identifies the specific Glu-26-Lys mutation in the β-globin gene responsible for HbE. This helps to confirm the diagnosis and guide treatment.

The HbE mutation analysis is usually a one-time test, performed for diagnostic or carrier screening purposes.

As a genetic test, it doesn't have "normal" values. The results will indicate either the presence or absence of the HbE mutation.

No special precautions are needed for the test. However, always inform your doctor about any medications or supplements you're taking as they may interfere with the test results.

Genetic tests like this one are highly accurate. However, a recent blood transfusion might influence the results.

The presence of HbE is a non-modifiable factor as it is a genetic mutation. It cannot be changed by diet, lifestyle, or medication.

In case of an abnormal test result, a hematologist or geneticist should be consulted.

If you have the HbE mutation, you either have HbE disease or are a carrier. Carriers usually do not have symptoms but have the potential to pass the mutation to their children.

Yes, individuals with the HbE mutation can have children. However, if both parents are carriers, there's a risk of having a child with HbE disease or HbE beta-thalassemia. Genetic counseling is recommended.

There is currently no cure for HbE disease. However, management of symptoms and prevention of complications are possible with appropriate treatment.

The management of HbE disease includes regular health check-ups, iron supplementation, and folic acid. For severe cases of HbE beta-thalassemia, blood transfusions or a bone marrow transplant may be required.

The HbE mutation analysis plays a significant role in the diagnosis and management of HbE disease. It is invaluable in identifying carriers of the mutation, allowing for informed family planning. Though there's currently no cure for HbE disease, early detection through this test can enable proper management of the condition, allowing individuals to lead healthier lives. It is always important to maintain regular check-ups with your doctor when managing any health concerns.

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