sickle cell disease Flashcards
What is sickle cell disease?
The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells
What emergencies can arise in sickle cell disease?
Vaso-occlusive crisis, aplastic crisis, splenic sequestration crisis, haemolytic crisis
What is a vaso-occlusive crisis in sickle cell disease?
The vaso-occlusive crisis is caused by sickle-shaped red blood cells that obstruct capillaries and restrict blood flow to an organ, resulting in ischaemia, pain, necrosis, and often organ damage
What is a splenic sequestration crisis in sickle cell disease?
The spleen is frequently affected in sickle cell disease, as the sickle-shaped red blood cells causes narrowing of blood vessels and reduced function in clearing the defective cells
It is usually infarcted before the end of childhood in individuals suffering from sickle cell anaemia
This spleen damage increases the risk of infection from encapsulated organisms; preventive antibiotics and vaccinations are recommended for those lacking proper spleen function.
Splenic sequestration crises are acute, painful enlargements of the spleen, caused by intrasplenic trapping of red cells and resulting in a precipitous fall in haemoglobin levels with the potential for hypovolemic shock
What is acute chest syndrome in sickle cell disease?
Acute chest syndrome is defined by at least two of these signs or symptoms: chest pain, fever, pulmonary infiltrate or focal abnormality, respiratory symptoms, or hypoxemia
Most cases present with vaso-occlusive crises, and then develop acute chest syndrome
What is an aplastic crisis in sickle cell disease?
Aplastic crises are acute worsenings of the patient’s baseline anaemia, producing pale appearance, fast heart rate, and fatigue. This crisis is normally triggered by parvovirus B19, which directly affects production of red blood cells
What is a haemolytic crisis in sickle cell disease?
Haemolytic crises are acute accelerated drops in haemoglobin level. The red blood cells break down at a faster rate. This is particularly common in people with coexistent G6PD deficiency
What are complications of sickle cell disease?
Increased infection risk
Stroke
Gallstones
Hyposplenism
What inheritance pattern does sickle cell disease follow?
Autosomal recessive
What does the blood profile of someone with sickle cell disease show?
Haemoglobin 6-8 g/dl
High reticulocyte count
Howell-Jolly bodies
How would you manage sickle cell disease?
Prevent complications:
Penicillin prophylaxis should be offered to all children with sickle cell disease, started by 3 months of age and continued until the child is 5 years old
Women with sickle cell disease without complications can use any method of contraception
How would you manage sickle cell crisis?
Low dose opioids for severe pain
Treat dehydration
Treat sepsis
Consider empirical broad-spectrum antibiotic treatment in people who do not have a fever, but have signs and symptoms of infection
Can you cure sickle cell disease?
Yes, bone marrow transplant
Need HLA match
What is the prognosis for sickle cell disease?
About 90% of people survive to age 20, and close to 50% survive beyond age 50
