21 Oct Sickle Cell and All You Should Know About Genotypes.
Are you planning a wedding? Before you walk down the aisle and say, “I do”, consider this important health check up: Genotype Screening. In case you aren’t aware, genotypes and their compatibility can impact your future children, putting so much strain on the overall health of your family relationship.
The ABC of Genotype
Everyone inherits genes from both parents. These genes determine your traits, including your blood type. There are five main blood genotypes: AA, AS, AC, SS, and SC. The first two (AA and AS) are normal, while a combination of the latter three (AC, SS, and SC) can lead to the development of sickle cell disease.
Why Compatibility Matters
When you and your partner plan to have children, your genotypes play a crucial role. Certain combinations increase the risk of your child inheriting sickle cell disease. For example, an AA genotype is ideal – it has minimal risk of sickle cell offspring with almost any partner. If you have genotype AS and your partner has the same genotype, you have at least a 25% chance of having a child with sickle cell disease (SCD).
Understanding Sickle Cell Disease (SCD)
SCD is a genetic blood disorder affecting red blood cells. Abnormal haemoglobin (the oxygen-carrying protein in red blood cells) causes these cells to sickle (become crescent-shaped). These sickled cells are rigid and sticky, blocking blood flow and preventing oxygen from reaching organs. SCD is mainly of two types – Haemoglobin SS or HbSS and Haemoglobin SC or HbSC
The Complications of SCD Can Be A Huge Burden!
A major reason why SCD prevention is advisable is due to the high risk of complications of SCD occurring during the early or later stages of life in the child. These complications, which range from mild to severe, affect the quality of life of the individual physically, socially, mentally, even more. Here are a few of the complications of SCD:
- Pain: Sickled cells blocking blood flow cause severe pain episodes (crises).
- Anaemia: Lack of healthy red blood cells leads to fatigue, weakness, and shortness of breath.
- Acute Chest Syndrome: A life-threatening complication where sickled cells block blood flow to the lungs.
- Other complications: SCD can also lead to strokes, vision problems, and organ damage.
Can SCD Be Cured?
While there is no readily available cure for SCD, treatments can manage symptoms and improve quality of life. These include medications, blood transfusions, and in some cases, bone marrow transplants. However, gene editing therapies such as CRISPR are currently being tested as a potential cure for the disease.
The Key to Prevention: Know Your Genotype On Time.
The most effective way to prevent SCD is through proper premarital genotype screening. We advise the test to be done in two different but reputable laboratories for authenticity and genetic counselling. By understanding your and your partner’s genotypes, you can make informed decisions about your family’s future.
REFERENCES
https://byjus.com/biology/genotype-definition/
https://www.medburymedicals.com/genotype-and-blood-group-increases-your-quality-of-life/
https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease
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