L3_Sickle Cell Anemia 2

Question 1

What is the primary cause of polymerization in HbS? what are some other factors?

Answer 1

Primary cause is deoxygenation. Other factors include fever, acidosis, and dehydration.

Question 2

What is a crucial factor that hinders the effective treatment and prevention of sickle cell disease?

Answer 2

OUr inability to accurately identify patients destined to have more severe disease impairs our ability to adjust their therapy.

Question 3

Why is newborn screening performed?

Answer 3

Because it is important to diagnose ASAP bc you would treat certain symptoms in a NB much differently if you knew they had SSD

Question 4

What is a common lab technique used for Hb screening?

Answer 4

Gel electrophoresis. HbS mutations decreased neg charge and causes slower migration. HbC increase positive charge and greatly decreases migration.

Question 5

What is the abbreviation used to ID people with sickle cell trait? do they show symptoms?

Answer 5

AS, no they usually do not know they have the disease.

Question 6

Describe the problems that Hemoglobin SC causes and the severity of the disease

Answer 6

C does not sickle but increases Hb viscosity. patients with this disease have a milder form of sickle cell.

Question 7

Describe the genetics of Sickle Beta thalassemia and the range of severity.

Answer 7

Inhert HbS from one parrent and little or no HbA from ineffective beta thalassemia gene (1 parent AS other thalassemia trait) Disease can be very severe if no HbA is produced or it can be mild if some HbA is produced.

Question 8

What is a major complication you worry about in children with sickle cell disease?

Answer 8

Bacterial sepsis. This is caused by splenic vassoocclusion which inhibits bacterial clearance, particularly encapsulated (pneumococcus). Prophylatic penicillin and immunizations can greatly decrease the risk. Death withing 8 hours of first symptoms of fever!!!!!

Question 9

How would you treat fever in a child with sickle cell differently than a child without?

Answer 9

Urgent administration of IV antibiotics, you must recognize fever as the first sign of sepsis in these children.

Question 10

What is the most common complication throughout life for someone with sickle cell?

Answer 10

Sickle cell events- panful vaso-occlusive episodes.

Hand and foot syndrome is first sign in many children

Question 11

What needs to be done to help a person who is in sickle cell crisis? What is a common mistake made?

Answer 11

Pain control, fluids, ensure oxygenation, control fever (transfusion is not usually helpful). Too often, children are under prescribed narcotics due to assumption of addiction.

Question 12

What types of strokes are more common in children? adults?

Answer 12

children-thrombotic

Adults- hemohhragic

Question 13

What is done to treat strokes and prevent future strokes?

Answer 13

RBC transfusions and prophylaxis

in bad cases can indicate for marrow transplant

Question 14

What can be done to help prevent/catch strokes before they start?

Answer 14

Tanscranial Doppler (MRI)

Question 15

If you see signs of or indicating a stroke on MRI what should you do?

Answer 15

immediately start transfusions

Question 16

What is the most common cause of death in people older than 5 yrs?

Answer 16

Acute Chest Syndrome, includes any/all of infection/vaso-occlusion,/fat embolus and can lead to chronic lung disease

Question 17

How is Acute Chest Syndrome treated?

Answer 17

Antibiotics, oxygenation, incentive spirometry, possible transfusions

Question 18

What is Acute Splenic Sequestration Crisis? Who does it usually effect and what is done to treat/prevent it?

Answer 18

Sudden enlargement of the spleen due to vasso-occlusion can rapidly lead to hypovolemic shock in the first five years of life. Acute treatment involves fluid resuscitation and transfusion. Teach parents to palpate spleen and listen to them!

Question 19

How is a prenatal diagnosis made? when would this be considered?

Answer 19

If at risk, prenatal diagnosis made via amniocentesis ONLY if termination is considered

Question 20

What is the safest possible transplant?

Answer 20

Chord blood from an unaffected sibling.

Question 21

What is the only effective therapeutic that is currently used?

Answer 21

hydroxyurea

Question 22

What does bone marrow transplant currently require?

Answer 22

HLA identical sibling

Question 23

Who usually is considered for a marrow transplant?

Answer 23

strokes, frequent episodes, severe acute chest syndrome

Question 24

Do you need to make 100% HbA to get better?

Answer 24

NO, 5-10-15% could be enough

Question 25

Where is bone marrow transplant research moving?

Answer 25

towards use of unrelated HLA-identical donors, use of unrelated donors now focussing on chord stem cells, (we need viral delivery)