SNP Shot: Genomic Insights

Sickle cell disease encompasses a collection of inherited conditions that impact hemoglobin, the protein within red blood cells responsible for transporting oxygen throughout the body. Individuals affected by these disorders possess an abnormal form of hemoglobin, known as hemoglobin S, which causes red blood cells to deform into a characteristic sickle or crescent shape.

The signs and symptoms of sickle cell disease typically manifest in early childhood. Common features of the disease include a deficiency in red blood cells (anemia), recurring infections, and intermittent pain crises. The intensity of these symptoms differs significantly among individuals, with some experiencing only mild manifestations and others requiring frequent hospitalization due to severe complications.

The symptoms associated with sickle cell disease arise from the sickling of red blood cells. This process leads to premature destruction of red blood cells, resulting in anemia. Anemia, in turn, can cause symptoms like shortness of breath, persistent fatigue, and impaired growth and development in children. The accelerated breakdown of red blood cells can also result in jaundice, characterized by yellowing of the eyes and skin. Pain episodes occur when the rigid and inflexible sickled red blood cells become trapped within small blood vessels, obstructing the flow of oxygen-rich blood to vital tissues and organs, including the lungs, kidneys, spleen, and brain, potentially causing organ damage. A severe complication linked to sickle cell disease is pulmonary hypertension (high blood pressure in the arteries supplying the lungs), which can eventually lead to heart failure. Approximately 10% of adults with sickle cell disease develop pulmonary hypertension.

Inheritance:

Sickle cell disease is inherited through an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents who each carry only one copy of the mutated gene are typically asymptomatic and do not display any signs or symptoms of the condition.