Sicle Cell Disease Flashcards
What is the sickle gene?
Slide 3
What are the stages in sickling of red cells?
Slide 4
Sickle cell disease (SCD) incorporates…?
Sickle cell anaemia and all other conditions that can lead to a disease syndrome due to sickling
What are the genetics of sickle cell disorders?
Sickle cell anaemia (SS) and compound heterozygous states (e.g. SC, Sbeta thalassaemia):
- autosomal recessive
- clinically heterogeneous
Describe the pathogenesis of sickle cell disease
Slide 10-11
Slide 17?
What are the consequences of tissue infarction?
Slide 12
Cell-free haemoglobin limits nitric oxide bioavailability in sickle cell disease
CLOZE
…..
Pulmonary hypertension correlates with the severity of haemolysis. What is the likely mechanism for this?
Slide 15
What is the early presentation of sickle cell disorders?
Slide 19
What are the signs of sickle emergencies?
Slide 22
What is acute chest syndrome?
Slide 24
TRUE OR FALSE:
Stroke in sickle cell disease affects 8% SS
TRUE
Slide 27
What are the laboratory features of sickle cell disease?
Slide 29
Slide 32
Slide 34
How is sickle cell disease managed?
Slide 36-37
Slide 40-41
What are painful crises of sickle cell disease triggered by?
Slide 38
Describe the pain management of sickle cell disease
Slide 39
How is hydroxyurea used for the treatment of sickle cell disease?
Slide 43-44
What are the limitations for haemopoietic stem cell transplantation (HSCT)?
Slide 50
TRUE OR FALSE:
Sickle cell anaemia includes both HbSs and HbSC
FALSE
TRUE OR FALSE:
Sickling is due to a change in the alpha globin chain
FALSE
TRUE OR FALSE:
The molecular alteration is a deletion which protects against malaria
FALSE
TRUE OR FALSE:
sickle Hb makes red cells less deformable
TRUE
TRUE OR FALSE:
Clinical manifestations may start in utero because beta-globin is part of foetal Hb
FALSE
TRUE OR FALSE:
osteomyelitis is the name given to inflammation of a digit
FALSE
TRUE OR FALSE:
Women with HbSS have a normal life expectancy
FALSE
TRUE OR FALSE:
Chest crises may be fatal
True
TRUE OR FALSE:
Solubility tests are used to confirm sickle cell anaemia if screening tests are positive
FALSE
TURE OR FALSE:
If a lady with HbAS has a partner with HbSSS she should be offered genetic councelling
TRUE
