Sickle Cell Disease Flashcards
Sickle cell disease is a congenital disease causing sickle (looks like a tool used to cut grain) disease. What is the incidence of sickle cell disease?
1 - 0.5 / 100,000
2 - 5 / 100,000
3 - 50 / 100,000
4 - 500 / 100,000
1 - 0.5 / 100,000
- 300 babies born every year and 1400 with sickle cell disease
Does sickle cell affect boy or girls more, or are they equally affected?
- equally affected
Sickle cell disease is a congenital disease causing sickle moon like shape RBCs. What is the inheritance type that sickle cell is transmitted?
1 - X-linked dominant
2 - X-linked recessive
3 - autosomal recessive
4 - autosomal dominant
3 - autosomal recessive
You need 2 copies of the mutated gene
If they have 1 mutated gene, they also have a normal A protein and are a carrier
Sickle cell disease is a congenital disease causing sickle (moon like shape) disease inherited in an autosomal recessive manner. If mum and dad are both carriers (sickle cell traits), what is the likelihood that they will have a child with sickle cell disease?
1 - 100%
2 - 75%
3 - 50%
4 - 25%
4 - 25%
1 in 4 chance basically
Sickle cell disease is a congenital disease causing sickle (moon like shape) disease inherited in an autosomal recessive manner. Which haemoglobin is mutated causing sickle cell disease?
1 - haemoglobin S
2 - haemoglobin A1
3 - haemoglobin A2
4 - haemoglobin F
1 - haemoglobin S
Remember S is for sickle
Is sickle cell disease more common in men or women?
Affects both equally
Is sickle cell disease more common in adults or children?
- children
Almost always presents in infants
Which ethnicity is sickle cell disease most common in?
1 - caucasians
2 - europeans
3 - native Indians
4 - african and caribbeans
4 - african and caribbeans
Patients with sickle cell disease can have anaemia due to haemolysis of RBCs. This occurs when the HbS (haemoglobin S) changes its shape causing the RBCs to aggregate together. This happens in all the following conditions, EXCEPT which one?
1 - hypoxia
2 - dehydration
3 - acidosis
4 - alkalosis
4 - alkalosis
All 3 of these can cause the TBCs to change shape, specifically the HbS is what causes the RBCs to become crescent shaped
Once HbS shape changes and RBCs become crescent shaped, they clump together and lead to haemolysis intravascularly (in blood vessels), affecting which 2 organs more than others?
1 - kidney
2 - spleen
3 - liver
4 - heart
2 - spleen
3 - liver
Engulfed by macrophages, too much of this leads to anaemia
Due to intravascular haemolysis in the abnormally shaped RBCs un sickle cell disease, which enzyme can often be raised?
1 - alkaline phosphatase
2 - aspartate transaminase
3 - lactate dehydrogenase
4 - lipoprotein Lipase
3 - lactate dehydrogenase
Contained within RBCs, so if they die, LDH increases
During intravascular haemolysis in the abnormally shaped RBCs un sickle cell disease, in addition to raised LDH, what other compound is raised?
1 - conjugated bilirubin
2 - unconjugated bilirubin
3 - lactate
4 - creatinine
2 - unconjugated bilirubin
As a result of excessive haemolysis due to the abnormally shaped RBCs in sickle cell disease, all of the following typically occur, EXCEPT which one?
1 - jaundice
2 - scleral icticus
3 - renal calculi
4 - bilirubin gallstones
5 - anaemia
3 - renal calculi
Patients with sickle cell disease can have high RBC turnover meaning the bone marrow goes into overdrive. The medullary of the bone marrow can then expand, leading to which bones to appear bigger?
1 - femur
2 - tibia
3 - skull
4 - humerus
3 - skull
Called a hair on hair X-ray
Hematopoiesis (RBC production) can also occur in which organ that leads to organomegaly?
1 - kidneys
2 - spleen
3 - liver
4 - all of the above
3 - liver
Sickle cell disease can also lead to vaso-occlusion, also called Vaso-occlusive crisis and is the most common reason for hospital admission. It can lead to which of the following?
1 - acute onset or prolonged pain
2 - tissue ischaemia
3 - swelling in affected tissues (dactylitis-swelling of fingers and toes causing sausage fingers and toes)
4 - avascular necrosis in the hip
5 - all of the above
5 - all of the above
Sickle cell disease can also lead to vaso-occlusion, also called Vaso-occlusive crisis and is the most common reason for hospital admission. It can lead to all of the following neurological effects, EXCEPT which one?
1 - stroke
2 - motor neuron disease
3 - moyamoya disease
4 - mental status changes
2 - motor neuron disease
Moyamoya disease = chronic and progressive narrowing of blood vessels in the brain that leads to blockages
Sickle cell disease can also lead to vaso-occlusion, also called Vaso-occlusive crisis and is the most common reason for hospital admission. It can lead to all of the following respiratory symptoms, EXCEPT which one?
1 - SOB
2 - pneumonia
3 - acute chest syndrome
4 - chest pain
2 - pneumonia
Acute chest syndrome = pneumonia like syndrome that can lead to death
Sickle cell disease can also lead to vaso-occlusion, also called Vaso-occlusive crisis and is the most common reason for hospital admission. It can lead to all of the following renal symptoms, EXCEPT which one?
1 - necrosis
2 - CKD
3 - haematuria
4 - proteinuria
2 - CKD
Does sickle cell disease affect growth and development?
- yes
Leads to growth restriction
Does sickle cell disease increase or decrease risk of infection?
- increases risk due to impaired spleen function
Typically how is sickle cell diagnosed?
1 - haemoglobin levels
2 - ABG
3 - haemoglobin electrophoresis
4 - genetic testing
3 - haemoglobin electrophoresis
Proteins are separated based on their size
- genetic testing can be used, but takes a lot longer
In sickle cell disease, which type of anaemia is caused?
1 - microcytic anaemia
2 - macrocytic anaemia
3 - normocytic anaemia
4 - can be any of the above
3 - normocytic anaemia
B12, iron and folic acid are all present, its just the RBCs are abnormal
Sickle cell disease can also lead to vaso-occlusion, also called Vaso-occlusive crisis and is the most common reason for hospital admission. All of the following are used in the management of sickle cell disease, but which is often the most important management?
1 - Prevent crises, avoid triggers
2 - Oral penicillin prophylaxis
3 - Vaccinations
4 - Blood transfusion
5 - Folic acid supplementation
6 - Exchange transfusions
7 - Iron chelation therapy
8 - Hydroxycarbamide
9 - Bone marrow transplant (BMT)
1 - Prevent crises, avoid triggers
Triggers include:
- Cold temperatures
- Dehydration
- Exhaustion: may lead to lactic acidosis
- Alcohol: may cause dehydration
- Smoking: may cause the acute sickle chest syndrome
BMT is potentially curative
Which of the following vaccinations is it important to ensure that patients with sickle cell disease have had?
1 - meningococcus
2 -pneumococcus
3 - hepatitis B
4 - influenza
5 - all of the above
5 - all of the above
Vaccination schedule for paediatrics means that they get vaccine for all 4 of these at week 8
MenB - meningococcus
PCV = pneumococcus
hep B and influenza = 6 in 1
Although patients with sickle cell disease should receive all of the following vaccinations at week 8 following birth, which of the following vaccinations do NICE recommend every 5 years for sickle cell patients?
1 - meningococcus
2 -pneumococcus
3 - hepatitis B
4 - influenza
2 -pneumococcus
What is the role of folate supplements in sickle cell disease management?
1 - important for synthesising DNA and RNA needed for RBCs
2 - cofactor in the formation of haem
3 - important for B12 absorption
4 - iron absorption ion the GIT
1 - important for synthesising DNA and RNA needed for RBCs
Sickle cell disease patients have high RBC turnover, so require more folate than most
Blood exchange and transfusions are important for sickle cell disease, to help with normocytic anaemia and dilute the haemoglobin-SS (HbSS). What is a common complication of this approach?
1 - septicaemia
2 - anaphylaxis
3 - iron overload
4 - infection
3 - iron overload
Hydroxycarbamide is a medication used in the treatment of sickle cell disease. What is the purpose of this drug?
1 - reduces change in HbSS despite triggers that lead to sickle shape
2 - reduce haemolysis
3 - increase spleens ability to clear dead RBCs
4 - increases HbF production, reducing the proportion of HbS
4 - increases HbF production, reducing the proportion of HbS
It is offered to all patients with sickle cell anaemia from the age of 9 months old onwards, unless pregnant or sexually active without contraception
