Genotype and Sickle Cell

Genotype and Sickle Cell

Healthy and active children can be a handful but not many parents will have it any other way. Deciding to have children biologically is a big deal. It is your responsibility as a parent to ensure to the best of your ability, that you have a healthy child. This is why you and your partner should determine your biological compatibility before having a child to ensure you give that child the best chance at a healthy life.

When a child is born, they normally inherit two copies of the gene that produces a protein called beta-globin. This protein is needed to produce the normal haemoglobin, which gives the genotype AA. Haemoglobin functions as an oxygen transporter to all parts of the body. 

Sickle Cell Trait

Having a sickle cell trait implies that a person inherits one copy of the genotype for sickle cell (S) from one of their parents and the normal gene A from the other parent. 

People who are born with a sickle cell trait do not usually experience any problems because the amount of sickle haemoglobin is not sufficient to cause sickle shaped cells. However, they can pass this gene onto their children.

Sickle Cell Disease (SCD)

Having sickle cell disease means that the person inherits an abnormal haemoglobin gene from both birth parents. When a person is born with sickle cell disease, it means that the haemoglobin is sickle shaped. Normal haemoglobin should be round and smooth but sickle cell disease makes it curved like a sickle and sticky.

This makes it difficult for the cells to move through blood vessels and they may clog up the vessels. As a result of this, oxygen is not transported to the tissues and this causes severe pain and in some cases damage to the oxygen deprived areas. 

Sickle cell disease is characterised by symptoms like:

  • Anaemia: This is due to the premature death of red blood cells usually leading to a shortage in the amount of red blood cells in the blood
  • Swollen limbs due to the obstruction of blood flow to the hands and feet
  • Frequent infections in cases where the spleen becomes damaged, leaving the individual vulnerable to infections
  • Delayed growth caused by the inability of red blood cells to effectively transport nutrients and oxygen

Types of Sickle Cell Disease

The common types of sickle cell disease are:

  • HbSS (SS genotype) This kind of SDC is usually called Sickle cell anaemia and it occurs when an individual inherits a sickle cell gene (S) from each parent. It is the most severe form of SCD
  • HbSC (SC genotype)This is caused by inheritance of the genotype for sickle cell “S” from one parent and another abnormal gene called ‘‘C’’ from the other.
  • HbS beta thalassemiaThis is caused when a person inherits the S sickle cell gene from one of their parents, and from the other, gets a beta thalassemia gene. Beta thalassemia is a kind of anemia.

There are other rare kinds of SCD such as HbSD, HbSE and HbSO. People born with any of these types of SCD inherit the “S” sickle cell gene and another abnormal gene like “D”, “E” or “O”.

The only effective cure for SCD is a bone marrow or stem cell transplant.

People who intend to have children biologically are advised to talk to a doctor on Doctall and know their genotype and that of their partner to completely avoid the risk of having a child with sickle cell disease.

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