Sicle Cell Disease

Question 1

What is the sickle gene?

Answer 1

Slide 3

Question 2

What are the stages in sickling of red cells?

Answer 2

Slide 4

Question 3

Sickle cell disease (SCD) incorporates…?

Answer 3

Sickle cell anaemia and all other conditions that can lead to a disease syndrome due to sickling

Question 4

What are the genetics of sickle cell disorders?

Answer 4

Sickle cell anaemia (SS) and compound heterozygous states (e.g. SC, Sbeta thalassaemia):

• autosomal recessive
• clinically heterogeneous

Question 5

Describe the pathogenesis of sickle cell disease

Answer 5

Slide 10-11

Slide 17?

Question 6

What are the consequences of tissue infarction?

Answer 6

Slide 12

Question 7

Cell-free haemoglobin limits nitric oxide bioavailability in sickle cell disease
CLOZE

Answer 7

…..

Question 8

Pulmonary hypertension correlates with the severity of haemolysis. What is the likely mechanism for this?

Answer 8

Slide 15

Question 9

What is the early presentation of sickle cell disorders?

Answer 9

Slide 19

Question 10

What are the signs of sickle emergencies?

Answer 10

Slide 22

Question 11

What is acute chest syndrome?

Answer 11

Slide 24

Question 12

TRUE OR FALSE:

Stroke in sickle cell disease affects 8% SS

Answer 12

TRUE

Slide 27

Question 13

What are the laboratory features of sickle cell disease?

Answer 13

Slide 29
Slide 32
Slide 34

Question 14

How is sickle cell disease managed?

Answer 14

Slide 36-37

Slide 40-41

Question 15

What are painful crises of sickle cell disease triggered by?

Answer 15

Slide 38

Question 16

Describe the pain management of sickle cell disease

Answer 16

Slide 39

Question 17

How is hydroxyurea used for the treatment of sickle cell disease?

Answer 17

Slide 43-44

Question 18

What are the limitations for haemopoietic stem cell transplantation (HSCT)?

Answer 18

Slide 50

Question 19

TRUE OR FALSE:

Sickle cell anaemia includes both HbSs and HbSC

Answer 19

FALSE

Question 20

TRUE OR FALSE:

Sickling is due to a change in the alpha globin chain

Answer 20

FALSE

Question 21

TRUE OR FALSE:

The molecular alteration is a deletion which protects against malaria

Answer 21

FALSE

Question 22

TRUE OR FALSE:

sickle Hb makes red cells less deformable

Answer 22

TRUE

Question 23

TRUE OR FALSE:

Clinical manifestations may start in utero because beta-globin is part of foetal Hb

Answer 23

FALSE

Question 24

TRUE OR FALSE:

osteomyelitis is the name given to inflammation of a digit

Answer 24

FALSE

Question 25

TRUE OR FALSE:

Women with HbSS have a normal life expectancy

Answer 25

FALSE

Question 26

TRUE OR FALSE:

Chest crises may be fatal

Answer 26

True

Question 27

TRUE OR FALSE:

Solubility tests are used to confirm sickle cell anaemia if screening tests are positive

Answer 27

FALSE

Question 28

TURE OR FALSE:

If a lady with HbAS has a partner with HbSSS she should be offered genetic councelling

Answer 28

TRUE