The 10 Most Common Genetic Disorders

Sickle Cell Disease: An Inherited Form of Anemia

Sickle Cell Disease (SCD) is a hereditary type of anemia characterized by a deficiency of healthy red blood cells, resulting in insufficient oxygen levels in the body. Typically, red blood cells are pliable and round, allowing for easy movement through the bloodstream. However, in individuals with sickle cell anemia, the red blood cells become inflexible, sticky, and assume a sickle or crescent shape. Consequently, these abnormal cells can become lodged in narrow blood vessels, impeding or blocking the flow of blood and oxygen to various parts of the body. Over time, this condition can lead to organ failure and ultimately prove fatal.


Understanding Polycystic Kidney Disease

Polycystic Kidney Disease (PKD) is a commonly inherited kidney disease that is passed down through families as an autosomal dominant trait. It affects approximately 1 in every 1,000 individuals in the general population. Among patients on dialysis, PKD is present in about 4-10% of cases.

One of the initial symptoms experienced by about two-thirds of PKD patients is elevated blood pressure. As kidney function declines, the prevalence of hypertension increases. Additionally, about half of the patients may experience pain in the loins and abdomen, which is typically caused by the enlargement of cystic kidneys. In some cases, acute pain may indicate bleeding in the cyst, obstruction (such as a thrombus), or infection (accompanied by fever).

The first noticeable symptom of PKD is often gross haematuria, which is the presence of blood in the urine. This occurs as a result of blood vessel rupture within the kidneys.

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