Sickle cell anaemia

Sickle Cell anaemia 

 Sickle cell anaemia is an autosomal recessive disorder, which leads to deformation of the shape of the red blood cells, which then prevent the cells being able to travel through small blood vessels. This then deprives organs and tissues of oxygen. Sufferers experience a lot of pain and it can lead to other serious medical problems.

Sickle cell is an genetic disorder caused by a mutation in the amino acid sequence coding for the haemoglobin gene. This mutation is caused by a hydrophobic Valine replacing Glutamic acid in position 6 of the beta haemoglobin chain. The new valine lies on the surface of the T-state molecule, this new hydrophobic patch interacts with another hydrophobic patch on the haemoglobin, which initiates aggregation. The aggregates form long fibres which stiffen the normally flexible red blood cells. This leads to distortion of the red blood cells and leads to capillary occlusion, preventing the delivery of oxygen to body tissues. The mutation is known as HbS, the normal haemoglobin is referred to as HbA.

<span class="Apple-style-span" style="font-size: 13px; " Inheritance  ===

Sickle cell is a recessive autosomal disorder, therefore two defected genes are needed (SS) for sickle cell anaemia. If one parents were to be a carrier of the gene, (SA), each child would have a 25% chance of inheriting two sickle cell genes, 25% chance of inheriting two normal genes, and 50% chance of becoming a carrier like the parents.