Sickle Cell Anaemia and How It Can Affect Your Family

Kate, a young girl, loves to join her friends in their endless games. But there are days when she can’t keep up, not because she doesn’t want to, but because her body doesn’t allow her. On these days, she is bedridden and battles extreme pain that seems to come out of nowhere. 

Kate has sickle cell anaemia, a hereditary blood disorder affecting millions of people worldwide. Though it’s a well known condition, there are still many misconceptions regarding its symptoms, complications, diagnosis and how its treated and managed. 

Read the blog to understand the condition better. 

What is Sickle Cell Anaemia?

Sickle Cell Anaemia is a type of inherited blood disorder known as the Sickle Cell Disease. It affects the red blood cells which are usually round and flexible, so they can move easily through blood vessels. 

But, in this condition, some red blood cells are shaped like sickles or crescent moons and these cells are hard and sticky. They stop the normal red blood cells from doing their job, which is to carry oxygen throughout the body. 

Sickled cells don’t live as long as the normal red blood cells and hence the body doesn’t have enough healthy red blood cells. This causes anaemia, the condition that gives sickle cell anaemia its name. Anaemia is a lack of heathy red blood cells or haemoglobin. 

What causes Sickle Cell Anaemia?

This condition is caused when the gene that tells the body to make haemoglobin, is changed. Haemoglobin is the iron-rich compound in red blood cells that allows the cells to carry oxygen from the lungs to the rest of the body. The haemoglobin linked with the sickle cell anaemia causes red blood cells to become hard and sticky. 

People with sickle cell anaemia inherit the disease from their biological parents.  People who inherit the changed protein gene from both the biological parents, have the sickle cell anaemia. People who inherit the changed gene from either one of the biological parents have the sickle cell trait. 

The Symptoms of Sickle Cell Anaemia

Symptoms of this condition show up at a young age. They appear in babies at around 6 months of age. The symptoms can differ from person to person and may also change over time. 

Symptoms include: 

• Anaemia: The most common symptom, resulting from the rapid breakdown of sickle cells that leads to shortage of healthy red blood cells. Usually, healthy red blood cells live for about 120 days before they need to be replaced, but the sickle cells die in 10 to 20 days, leading to shortage of healthy red blood cells. This leads to anaemia, as without sufficient red blood cells the body can’t get enough oxygen, and this causes fatigue. 

• Painful Crises: Periodic episodes of severe pain called painful crises. These develop when the sickle cells block the flow of blood through tiny blood vessels to the chest, joints, and abdomen. The intensity of pain varies and can last for a few hours to a few days. Some have a few painful crises a year while others may have dozen or more in a year. 

• Swelling of hands and feet: As sickled shaped red blood cells block the blood circulation in the hands and feet, it leads to swelling. 

• Frequent Infections: Sickle cells can damage the spleen, an organ involved in fighting infections. This raises the risks of developing infections. 

• Delayed Growth: As the red blood cells provide the body with the oxygen and nutrients that are needed for growth, shortage of those slows down the growth in the babies and children. The sickled cells may also delay puberty in teenagers. 

• Vision Problems: The tiny blood vessels that supply blood to the eyes can be blocked because of sickle cells. This damages the retina, and this leads to vision problems.

Sickle Cell Anaemia can lead to various complications such as:  

• Stroke: Anyone who has this condition, is at risk for stroke, including babies. Few of the signs of stroke are – extreme headache, sudden weakness and numbness in the body, trouble in speaking, walking, and seeing.  

• Avascular Necrosis: The sickle cells block the blood vessels that supply blood to the bones, so when the bones don’t get enough blood, the joints can narrow, and bones can die. This can happen anywhere but mostly happens in the hip.  

• Organ Damage: As sickle cells block the blood flow to organs, the organs need blood and oxygen. Due to the lack of oxygen rich blood, it damages the nerves and organs, including kidney, liver, and spleen, and can be fatal.  

• Splenic Sequestration: Sickle cells can get trapped in the spleen, causing it to expand. This may cause abdominal pain on the left side of the body and can be fatal. Parents can learn how to locate and feel their child’s spleen for enlargement.  

• Leg Ulcers: People with this condition may experience painful open sores on the legs.

Some other complications are – acute chest syndrome, pulmonary hypertension, gallstones, detached retinas, and chronic kidney diseases.  

How and When is it Diagnosed?

Sickle cell anaemia is usually diagnosed at the age of four to six months. The diagnosis is done through blood tests such as:  

• Newborn Screening: Blood from a heel or finger prick is taken to check the sickle haemoglobin.   

• Haemoglobin Electrophoresis: This test is done to detect the type of haemoglobin in the blood and is used to confirm the diagnosis. 

• Genetic Testing: This test can spot carriers of the sickle cell trait and help diagnose the disease before birth through the amniotic fluid sampling.  

How is Sickle Cell Anaemia Inherited? 

Sickle cell disease has an autosomal recessive inheritance pattern. A child inherits a copy of the sickle cell gene from both the parents. This occurs when both parents are carriers of the sickle cell gene, mostly known as having the sickle cell trait. Or it can happen when 1 parent has sickle cell disease and the other is a carrier of it.  

Individuals with only one sickle cell gene are typically healthy but can pass the gene to their offspring.  

How is the Sickle Cell Anaemia Treated and Managed?

While currently there is no cure for sickle cell diseases including sickle cell anaemia, various treatments and management can help alleviate symptoms and prevent complications.  Management of sickle cell anaemia is aimed at avoiding pain episodes, relieving symptoms, and preventing complications. Treatments and management include-  

• Medications: as prescribed by the healthcare professionals.  

• Blood Transfusions: If advised by the healthcare professional in order to increase the number of normal red blood cells. 

• Lifestyle and Home Remedies: Staying hydrated, avoiding extreme temperatures, healthy diet and regular exercise.  

• Regular Medical Care: Continuous monitoring by healthcare professionals is very important.

Understanding sickle cell anaemia is very important for supporting people who live with it. From recognising the symptoms to knowing how it’s inherited, knowledge is power. With continuous research and advances in medical care, the life of sickle cell anaemia patients have improved. By promoting awareness and support within our communities, we can help the people affected by this condition live healthier and happier lives.

Disclaimer: Please note that the information is strictly for informative purposes. It is not intended to be used in lieu of professional medical advice, inclusive of diagnosis or treatment. It is strongly advised that you seek a doctor’s medical advice on any treatment or medical condition that you learn about.