Hemoglobinopathies Lecture Powerpoint

Question 1

Sickle cell mutations are a result of…

Answer 1

…mutations on the B chain of the 6th amino acid

Question 2

Hemoglobin transports these 3 compounds

Answer 2

• O2
• CO2
• NO (vasodilator)

Question 3

Hemoglobinopathies definition

Answer 3

Genetic defects that result in abnormal structure of one of the globin chains of hemoglobin

Question 4

Thalassemias definition

Answer 4

Reduced or absent production of one or more globin chains in hemoglobin molecule (e.g. Beta thalassemia)

Question 5

Sickle cell trait definition

Answer 5

A benign condition in which an individual has one of the sickle cell genes, they live a normal life but can rarely have sickling under extreme conditions (such as sports) and thus should be accommodated appropriately

Question 6

The biconcave shape of RBC allow for it to ___, sickle cells cannot and thus results in ____

Answer 6

pass thru capillaries, ischemia or claudication

Question 7

Sickle cell pathophysiology

Answer 7

Molecule is less soluble, B molecule binds other B molecules creating chains of HgB and changing the shape to a sickle

Question 8

Sickle cell rarely affects patients below 4 months of age because…

Answer 8

….they use hemoglobin F

Question 9

Estimated age of death in sickle cell patients

Answer 9

42-48 years

Question 10

Sickle cell lifespan

Answer 10

15 days oppposed to normal RBC 120 days

Question 11

Priapism or stroke in young individuals might indicate…

Answer 11

…sickle cell disease

Question 12

Sickle cell is tested at birth in ___, it most often goes unchecked in ____ patients

Answer 12

All 50 states, immigrant

Question 13

Sickle cell crisis is also known as…

Answer 13

…vasoocclusive phenomena

Question 14

Hydroxyurea use in sickle cell disease pain management

Answer 14

It reactivates fetal hemoglobin production which has higher affinity for O2 helping alleviate frequency of pain episodes from sickle cell

Question 15

Dactylitis and what disease is it a hallmark of?

Answer 15

Sausage digits, occurs in children less than 7 years in the phalanges of hands and feet causing swelling, infarction causees premature fusion shortening affected digits, its a hallmark of sickle cell disease

Question 16

Pulmonary fat embolism definition

Answer 16

When fat from bone marrow gets into circulataion and becomes and emboli, can be fatal pulmonary emboli similar to a clot

Question 17

Aplastic crisis definition

Answer 17

Transient arrest of erythropoiesis in patients with sickle cell, abrupt reduction in hemoglobin conc. most often seen in children following infection with Human parvovirus B19 (fifth’s disease, think of the slapped cheek), results in a large infarct of portion of bone marrow

Question 18

Avascular necrosis of bone definition

Answer 18

Seen most often in femoral heads or humeral heads in both appendages, causes intense pain till infarct kills tissue then feel better, tissue becomes weak and collapses

Question 19

Glomerulonephropathy vs glomerulonephritis

Answer 19

Noninflammatory vs inflammatory disease

Question 20

Acute chest syndrome definition and what is it the leading cause of in sickle cell patients?

Answer 20

• Appearance of infiltrate with pulmonary symptoms in patient with sickel cell anemia,
• leading cause of death

Question 21

Only sickle cell cure available

Answer 21

Hematopoietic stem cell transplant from match, and destruction of patient’s current bone marrow