What is Sickle Cell Anemia? Know About its Symptoms, Causes and Diagnosis 

Introduction 

Sickle cell anaemia is a genetic blood disorder that affects millions of people around the world. It is a debilitating and painful condition that affects the normal shape of red blood cells, making them sickle-shaped and leading to blockages in the blood vessels. 

As a result, people with sickle cell disorder experience severe pain, anaemia, and a host of other health problems. Despite its prevalence and the impact it has on the lives of those affected, many people are still unfamiliar with the condition and its effects. In this blog, we aim to provide a comprehensive overview of sickle cell anaemia, including its causes, symptoms, diagnosis, and tips to prevent it. By doing so, we hope to raise awareness about this condition and support those living with it.

What is sickle cell anaemia? 

Sickle cell disease is a genetic blood disorder that affects the production of haemoglobin, the protein in red blood cells that carries oxygen from the lungs to the rest of the body. In individuals with sickle cell disease, the haemoglobin molecules form into crescent-shaped cells (hence the name ‘sickle cell’) instead of their normal round shape. This distorted shape causes the red blood cells to become stiff and sticky, leading to blockages in blood vessels and reduced oxygen flow to various parts of the body.

The symptoms of sickle cell disease can vary depending on the severity of the disease and can range from mild to severe. Common symptoms include pain episodes (known as ‘sickle cell crisis’), fatigue, anaemia, and jaundice. People with sickle cell disease are also at increased risk of serious infections and stroke.

There is currently no cure for sickle cell disease, but treatments are available to manage symptoms and reduce the risk of complications. These treatments include regular blood transfusions, antibiotics to prevent infections, and pain management. In some cases, bone marrow transplantation may be an option, but it is a complex procedure with many risks and is not suitable for everyone.

Symptoms of sickle cell anaemia 

It is a genetic blood disorder that causes red blood cells to form a rigid, sickle-like shape. This can cause various symptoms, which includes: 

Pain: This is a common symptom of sickle cell disease and is also known as a ‘sickle cell crisis’. Pain can occur anywhere in the body and can range from mild to severe.

Fatigue: People with sickle cells disorder often experience chronic fatigue due to a lack of oxygen-rich red blood cells.

Anaemia: Sickle cells can clog blood vessels and reduce the flow of oxygen-rich blood to various parts of the body, leading to anaemia.

Infections: People with sickle cells are at a higher risk of infections due to a weakened immune system.

Jaundice: Jaundice can occur when sickle cells block the flow of bile, a fluid produced by the liver that helps digest fats.

Breathing difficulties: Sickle cells can block the flow of oxygen-rich blood to the lungs, leading to shortness of breath and rapid breathing.

Stroke: The reduced flow of oxygen-rich blood to the brain can lead to stroke in some people with sickle cell anaemia.

Hand-foot syndrome: This can occur when sickle cells block the flow of blood to the hands and feet, leading to swelling and pain.

Causes of sickle cell anaemia 

Sickle cell disease is caused by a genetic mutation in the haemoglobin gene. Haemoglobin is the protein in red blood cells that carries oxygen from the lungs to the rest of the body. In people with this condition, the haemoglobin molecules form long, rigid structures that cause the red blood cells to take on a sickle shape.

The genetic mutation that causes sickle cell anaemia is inherited from both parents. A person must receive two copies of the mutated gene, one from each parent, to develop the condition. If a person receives only one copy of the mutated gene, they have sickle cell trait and do not have the full-blown disease.

Diagnosis of sickle cell anaemia 

The diagnosis is done through a blood test called haemoglobin electrophoresis. This test can identify the presence of haemoglobin S, which is the abnormal type of haemoglobin found in people with sickle cell anaemia.

Other tests that may be performed to confirm the diagnosis include- 

Complete blood count (CBC): This test measures the levels of red blood cells, white blood cells, and platelets in the blood.

Sickle cell solubility test: This test measures the ability of red blood cells to change shape under certain conditions, which can help confirm the diagnosis of sickle cell anaemia.

Hemoglobin oxygen affinity test: This test measures how easily oxygen binds haemoglobin.

Genetic testing: This test can confirm the presence of the sickle cell anaemia gene and determine the specific type of sickle cell a person has.

Final thoughts 

In conclusion, sickle cell anaemia is a serious and lifelong condition that affects millions of people around the world. Early diagnosis and prompt medical treatment can help manage the symptoms and prevent complications. Understanding the causes and symptoms of sickle cell anaemia is crucial in ensuring effective management and treatment of the condition.

Some of the common symptoms of it include severe pain, fatigue, and anaemia. The cause of the disease is a genetic mutation that affects the structure of haemoglobin, the protein in red blood cells that carries oxygen to the body’s tissues.

Diagnosis of sickle cell disease typically involves a blood test, which can detect the presence of sickle haemoglobin. If you suspect that you or someone you know has sickle cell anaemia, it’s important to see a doctor as soon as possible.

Overall, managing sickle cell anaemia requires a team approach, involving the patient, their family, and healthcare providers. With proper medical care and support, individuals with sickle cell disorder can lead long and productive lives.

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Written by: Anjali Sharma