Sickle Cell Disease: Symptoms And Causes:
Sickle cell anemia belongs to a group of inherited disorders called sickle cell disease, which impacts the structure of red blood cells responsible for transporting oxygen throughout the body.
Typically, red blood cells possess a round and flexible shape, enabling them to move smoothly through blood vessels. However, in the case of sickle cell anemia, some red blood cells adopt a sickle or crescent moon shape. These distorted cells also become rigid and sticky, leading to potential disruptions or obstructions in blood flow.
While a complete cure for sickle cell anemia is currently unavailable for most individuals, treatments exist to alleviate pain and prevent complications associated with the disease.
Symptoms
Sickle cell anemia typically manifests its signs and symptoms around the age of 6 months, although they can vary among individuals and may change over time. The following are the common indications associated with the condition:
- Anemia: Due to the fragility and shortened life span of sicklecells, as scarcity of red blood cells (anemia) arises.Normally, red blood cells survive for about 120 days before replacement, but sickle cells typically die within 10 to 20 days. This shortage of red blood cells hampers the body’s oxygen supply, resulting in fatigue.
- Painful Episodes :Referred to as pain, cries, recurrent episodes of severe pain are prominent symptoms of sickle cell anemia. The pain occurs when sickle-shaped red blood cells obstruct blood flow through narrow blood vessels in the chest, abdomen, and joints. The intensity of the pain varies and can persist for hours to days. Some individuals experience only a few pain crises per year, while others may have a dozen or more. Severe pain crises may necessitate hospitalisation.
- Swelling off hand feet: The blockage of blood circulation in the hands and feet by sickle-shaped red blood cells can lead to swelling in these areas.
- Increased Susceptibility to infections: Sickle cells can impair the functioning of the spleen, rendering individuals more prone to infections.
- Delayed Growth: Insufficient quantities of these cells can impede growth infants and children, as well as delay the onset of puberty in teenagers.
- Vision Problems : The tiny blood vessels that supply the eyes can become obstructed by sickle cells, resulting in damage to the retina-the part of the eye responsible for processing visual images.
It is important to note that the signs and symptoms of sickle cell anemia can vary in severity and presentation among individuals. Regular medical care, including appropriate treatments and interventions, is essential for managing the condition effectively and improving the quality of life.
When to see a doctor
It is important to promptly consult a healthcare professional if you or your child exhibit symptoms associated with sickle cell anemia. Given that individuals with this condition are susceptible to infections, which can potentially be life-threatening, immediate medical attention is necessary if a fever surpasses 101.5°F (38.5°C).
In the event of symptoms indicative of a stroke, it is crucial to seek emergency medical care. These symptoms may include:
- Confusion
- Difficulty in walking or speaking
- Sudden changes in vision
- Unexplained numbness
- Severe headaches
Causes
Sickle cell anemia occurs due to a genetic mutation affecting the gene responsible for producing hemoglobin, the iron-rich compound found in red blood cells. Hemoglobin enables the transportation of oxygen from the lungs to various parts of the body. In the case of sickle cell anemia, the altered hemoglobin causes red blood cells to become rigid, sticky and deformed in shape.
To develop sickle cell anemia, a child must inherit two copies of the altered gene, one from each parent. Both the mother and father must carry a single copy of the sickle cell gene, also known as sickle cell trait, and pass on both altered gene copies to their child.
When only one parent passes the sickle cell gene to the child, the child will have sickle cell trait. Individuals with sickle cell trait possess one normal hemoglobin gene and one altered gene, resulting in the production of both normal and sickle cell hemoglobin. While their blood may contain some sickle cells, they generally do not experience symptoms. However, they carry the gene for the disease and can pass it on to their children.
Prevention
If you have the sickle cell trait, consulting with a genetic counselor before planning to have a child can provide valuable insights into the risk of having a child with sickle cell anemia. A genetic counselor can offer guidance on potential treatments, preventive measures, and reproductive options available. Seeking their expertise can help you make informed decisions and better understand the implications related to family planning.
References
Hydration and nutritional strategies for sickle cell disease – PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175917/
The Role of Nutrition in Sickle Cell Disease – PMC