le Cell Anaemia
CS81-P1112 is an autosomal recessive disease mutation that causes sickle cell anaemia. It is most commonly found in African and Middle Eastern populations. Symptoms of sickle cell anaemia include a chronic anaemia, episodes of pain, organ damage, and an increased risk of infection. It is caused by a change in one nucleotide of the haemoglobin gene, which leads to the production of the abnormal haemoglobin S (HbS) protein. This mutation causes the red blood cells to become sickle-shaped and reduces their ability to carry oxygen, leading to the anaemia. Treatment for sickle cell anaemia includes folic acid supplements, antibiotics, frequent blood transfusions, and, in some cases, bone marrow transplants.