Sickle Cell Disease Targeted Mutation Analysis

Sickle Cell Disease Targeted Mutation Analysis

Non-returnable
Rs.4,000.00
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.

This variant in HBB gene, c.20AtoC present in homozygous for and resulting in a change in the Hemoglobin protein, p.Glu6Val accounts for 60%-70% of SCD 
Sample Type
2 mL EDTA Blood
Turnaround Time (days)
10 days
Genes
HBB - c.20AtoC
Disorders
Sickle Cell Disease, Sickle Cell Anemia
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Product Details
- Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.The most common type is known as sickle cell anaemia (SCA).
- It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.
- Problems in sickle cell disease typically begin around 5 to 6 months of age.
- Sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene (HBB) that makes haemoglobin, one from each parent.
- About 80% of sickle cell disease cases are believed to occur in Sub-Saharan Africa. It also occurs relatively frequently in parts of India, the Arabian Peninsula, and among people of African origin living in other parts of the world.
- This variant in HBB gene, c.20AtoC present in homozygous for and resulting in a change in the Hemoglobin protein, p.Glu6Val accounts for 60%-70% of SCD 
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