Sickle Cell Anemia: Causes, Symptoms, Diagnosis, and Treatment
Sickle cell anemia is a genetic disorder that affects millions of people worldwide. It is a chronic condition that affects the production of hemoglobin in the blood, leading to the abnormal shape of red blood cells. Therefore in this article, we will explore the causes, symptoms, diagnosis, and treatment of this disease.
Table of contents
What is Sickle Cell Anemia?
Sickle cell anemia is an inherited blood disorder that affects the production of hemoglobin. Hemoglobin is a vital protein found in the bloodstream which serves to transport oxygen throughout the body. Also, the hemoglobin protein is abnormal, leading to the formation of sickle-shaped red blood cells. In addition, these sickle-shaped red blood cells can become stuck in small blood vessels, leading to decreased blood flow and oxygen supply to tissues and organs.
Causes of Sickle Cell Anemia
Sickle cell anemia is caused by a mutation in the HBB gene, which provides instructions for making the beta-globin subunit of hemoglobin. In addition, the mutation causes the beta-globin subunit to produce an abnormal form of hemoglobin, known as hemoglobin S.
It is an inherited disorder, meaning that it is passed down from parents to their children. So, to develop this, a person must inherit two copies of the HBB gene mutation, one from each parent.
Symptoms of Sickle Cell Anemia
The symptoms of sickle cell anemia can vary from person to person and can range from mild to severe. Some common symptoms include:
- Shortness of breath
- Chest pain
- Abdominal pain
- Joint pain
- Delayed growth and development in children
Diagnosis of Sickle Cell Anemia
It can be diagnosed through a blood test that checks for the presence of hemoglobin S. Other tests may be done to check for complications such as organ damage or infections.
The treatment of sickle cell anemia aims to manage symptoms, prevent complications, and improve quality of life. Some common treatments include:
- Pain management with over-the-counter or prescription pain relievers
- Hydroxyurea is a medication that can reduce the frequency and severity of pain crises
- Blood transfusions to increase the number of healthy red blood cells
- Bone marrow or stem cell transplants can cure sickle cell anemia but are risky and not always available
It can lead to several complications, including:
- Acute chest syndrome is a condition in which sickle-shaped red blood cells block blood vessels in the lungs
- Stroke, caused by sickle-shaped red blood cells blocking blood vessels in the brain
- Organs such as the liver, kidneys, and spleen can sustain damage due to various external factors.
- Infections, which can be more severe in people with it due to decreased immune function
Living with Sickle Cell Anemia
Living with sickle cell anemia can be challenging, but there are things that people with it can do to manage their condition and improve their quality of life. Some tips include:
- Staying hydrated to prevent dehydration, which can trigger a pain crisis
- Avoiding extreme temperatures, which can trigger a pain crisis
- Getting regular medical care to monitor for complications and manage symptoms
- When it comes to emotional support, it is important to seek help and guidance from people that you trust, such as family members, friends, or a mental health professional. Doing so can be beneficial for your well-being.
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