Understanding sickle cell complications

Sickle Cell Disease is a complex and debilitating genetic blood disorder that primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry.

It is caused by a mutation in the HBB gene, which leads to the production of abnormal haemoglobin known as haemoglobin S.

This results in the distortion of red blood cells into a sickle or crescent shape, causing a host of complications.

These sickled cells are rigid and sticky, leading to blockages in small blood vessels, reduced oxygen delivery, and widespread organ damage.

Understanding the complications associated with SCD is essential for effective management and improving patients’ quality of life.

Pain crises

One of the hallmark complications of SCD is Vaso-occlusive Crises, commonly referred to as pain crises. This occurs when sickled red blood cells block blood flow, leading to severe pain, inflammation, and potential tissue damage.

Pain crises can vary in intensity and duration, sometimes lasting for hours or even days.

They are often triggered by dehydration, stress, infection, cold temperatures, or high altitudes.

Managing pain crises typically involves hydration, pain relievers (such as opioids or NSAIDs), and, in severe cases, hospitalisation for intravenous pain management and oxygen therapy.

Anaemia and fatigue

Since sickled cells have a much shorter lifespan (10–20 days) compared to normal red blood cells (about 120 days), individuals with SCD experience chronic haemolytic anaemia.

The rapid breakdown of red blood cells leads to a constant state of anaemia, which manifests as extreme fatigue, pallor, dizziness, shortness of breath, and delayed growth in children. Severe anaemia may necessitate blood transfusions to maintain adequate oxygen levels in the body. However, repeated transfusions can result in iron overload, which requires chelation therapy to prevent organ damage.

Infections and immune system complications

People with SCD are highly susceptible to infections due to functional asplenia, where repeated damage to the spleen causes it to become fibrotic and non-functional. The spleen plays a crucial role in filtering bacteria and initiating immune responses. As a result, individuals with SCD are more vulnerable to bacterial infections such as pneumonia, meningitis, and septicaemia. Prophylactic antibiotics (such as penicillin in young children) and vaccinations against pneumococcus, meningococcus, and Haemophilus influenzae type B are essential preventive measures.

Stroke and neurological complications

SCD significantly increases the risk of stroke, particularly in children. Sickled cells can obstruct blood flow to the brain, leading to silent or overt strokes that cause neurological impairment, cognitive deficits, and even death.

Silent strokes, which do not present with obvious symptoms, are especially concerning as they contribute to long-term learning disabilities and reduced academic performance.

Transcranial Doppler ultrasound screening is recommended for children with SCD to assess stroke risk, and chronic blood transfusions may be necessary for high-risk individuals.

Acute chest syndrome

Acute chest syndrome is a severe and life-threatening complication of SCD. It occurs when sickled cells block blood vessels in the lungs, leading to inflammation, infection, or pulmonary embolism.

Symptoms include chest pain, fever, cough, difficulty breathing, and low oxygen levels. ACS is a leading cause of death in individuals with SCD and requires immediate medical intervention, including oxygen therapy, antibiotics, pain management, and, in some cases, blood transfusions.

Pulmonary hypertension

Pulmonary hypertension is a condition characterised by increased blood pressure in the pulmonary arteries, leading to strain on the heart and reduced oxygenation of the blood.

In SCD, chronic haemolysis and repeated episodes of hypoxia contribute to the development of PH. Symptoms include shortness of breath, chest pain, fatigue, and an increased risk of heart failure. Regular screening with echocardiograms and early intervention with medications such as endothelin receptor antagonists or anticoagulants can help manage this complication.

Kidney complications

SCD affects kidney function in multiple ways, leading to complications such as haematuria (blood in urine), proteinuria (excess protein in urine), and chronic kidney disease. The kidneys are highly susceptible to damage due to the constant breakdown of sickled cells, which can impair their ability to concentrate urine, leading to dehydration. End-stage renal disease is a severe consequence that may require dialysis or kidney transplantation.

Eye problems

SCD can lead to severe eye complications, including sickle cell retinopathy, which occurs when blocked blood vessels in the retina cause haemorrhages, scarring, and even retinal detachment. This condition can result in partial or complete blindness if not detected early. Regular eye examinations by an ophthalmologist specialising in retinal diseases are crucial for monitoring and managing these complications.

Bone and joint complications

Bone complications are common in SCD due to reduced blood flow to the bones, leading to conditions such as osteonecrosis (avascular necrosis).

This occurs when bone tissue dies due to a lack of oxygen, causing severe joint pain, particularly in the hips and shoulders. Additionally, individuals with SCD have a higher risk of developing osteoporosis and fractures due to chronic inflammation and reduced bone mineral density. Treatment options include pain management, physical therapy, and, in severe cases, joint replacement surgery.

Delayed growth and puberty

Children with SCD often experience delayed growth and puberty due to chronic anaemia and nutritional deficiencies. The body prioritises essential functions, leading to slower development. Growth hormone therapy and nutritional support may be necessary in some cases to ensure proper development.

Pregnancy complications

Pregnancy in women with SCD is considered high-risk due to the increased likelihood of complications such as pre-eclampsia, preterm labour, miscarriage, and intrauterine growth restriction. Pregnant women with SCD require specialised care, frequent monitoring, and potential blood transfusions to maintain healthy oxygen levels for both mother and baby. Pain management during pregnancy must also be carefully considered to avoid harm to the foetus.

Psychological and social challenges

Beyond physical complications, SCD significantly impacts mental health and quality of life. Chronic pain, hospitalisations, and limitations on daily activities contribute to depression, anxiety, and social isolation.

Many individuals with SCD struggle to maintain employment, education, and relationships due to unpredictable health crises. Counselling, support groups, and mental health interventions play a crucial role in helping patients cope with the emotional burden of the disease.

Understanding the complications of SCD is crucial for effective management and improving the quality of life for affected individuals. From pain crises and anaemia to organ damage and psychological distress, SCD presents numerous challenges that require a multidisciplinary approach.

Early intervention, regular medical monitoring, and advances in treatment options can help mitigate these complications, offering patients a better prognosis and improved well-being. Raising awareness, increasing research funding, and expanding access to healthcare are essential steps towards a brighter future for SCD patients.

Until next time.

If you would like to contact me about Sickle cell, do so, via my email address; [email protected].  And do check out my blog:     https://www.dailylivingwithsicklecell.com/    My book on Sickle Cell – HOW TO LIVE WITH SICKLE CELL – and my other books are available for purchase on www.amazon.com.