Sickle Cell Disease

Question 1

How does sickle cell disease occur?to endo

Answer 1

Change from glutamic acid to valine at one AA site

Question 2

frequency of sickle cell disease

Answer 2

Hgb SS occurs in 0.15% of African american newborns

8-10% of african americans are carriers

Question 3

Pathophysiology of sickle cell disease

Answer 3

deoxygenation of mutant Hb leads to
- K effluc
- incr cell density/dehydration
- incr polymerization
sickled cells adhere to endothelial cells –> vasoconstriction –> decreased blood flow
lifespan reduced to 10-20 days, high reticulocytes, and bone marrow factory produces 3-4x normal amounts RBCs

Question 4

clinical features of sickle cell disease

Answer 4

higher Hgb - painful episodes, acute chest syndromes, osteonecrosis, proliferative
lower Hgb - stroke, priapism, leg ulcers

Question 5

Hand foot syndrome

Answer 5

no symptoms in 1st 6 months of life due to circulating Hgb

• painful, symmetric swelling of the hands and feet
• ischemic necrosis of small bones

Question 6

Splenic sequestion

Answer 6

sudden trapping of blood within spleen
occurs in infants under 2
fever, pain, resp symptoms
death can occur in less than 30min
Treatment
-IV fluids
-splenectomy

Question 7

Bone pain

Answer 7

chronic pain from bone infarction, sickle arthritis, and aseptic necrosis of the femur
treat with NSAIDs

Question 8

Other problems in sickle cell disease

Answer 8

strokes
kidney damage
eye problems

Question 9

preventative measures

Answer 9

no alcohol
no smoking
exercise regularly
8 12oz glasses of water a day
reduce stress
treat infections
wear warm clothes

Question 10

Treatment

Answer 10

Stroke: exchange transfusion
priapism: analgesia, hydration, partial exchange transfusion
Resp distress: abx coverage, O2, transfuse
splenic sequestration: transfuse
hydrate
analgesia: ibuprofen, APAP, ketorolac, opiates
vaccines
BMT

Question 11

Endari

Answer 11

L glutamine powder: reduces oxidant damage to RBCs
reduces severe complications of sickle cell disease
AEs: constipation, N/V, HA, abd pain, cough, pain

Question 12

hydroxyurea

Answer 12

reduces frequency of painful crises by stimulating production of fetal Hgb
long term use of this drug might cause problems later in life
AEs: fever, sore throat, cough, congestion, bruising or bleeding, hematemesis, melena