Sickle cell disease

 

Sickle Cell Disease

                            

Sickle cell disease causes your red blood cells to change into a “sickle” shape. These sickle-shaped cells can stick to each other and block blood flow, which prevents oxygen from reaching tissues and organs. When oxygen cannot reach tissues and organs, it leads to pain.

Sickle cell disease occurs when a person inherits two abnormal copies of the HBB gene, one from each parent. This affects hemoglobin, the protein responsible for carrying oxygen in the blood. This inheritance pattern is described as autosomal recessive. The presence of hemoglobin S (the form associated with sickle cell disease) not only changes the shape of red blood cells but also makes them more fragile. As a result, the cells break down more quickly than normal, making it difficult for the body to maintain healthy oxygen levels. Different combinations of abnormal hemoglobin genes can result in varying types and severities of the disease, but all disrupt how hemoglobin functions.

Link: https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease

Extra Link: Sickle Cell Disease - What Is Sickle Cell Disease? | NHLBI, NIH