CIS Case Study 8.15

Question 1

Name the beta globin amino acid substitution in sickle cell disease

Answer 1

• Glutamine substituted to Valine (on hemoglobin Beta chain)

Question 2

on what chromosome does substitution happen in sickle cell disease

Answer 2

chromosome 11 (position 6)

Question 3

pathophysiology of acute splenic sequestration in sickle cell disease

Answer 3

• Vaso-occulsion in the spleen secondary to sickle cells
• Splenic pooling of red cells (fall in hemoglobin)
• Elevated reticulocyte count
• Rapidly enlarging spleen
• Can develop hypovolemic shock

Question 4

Explain the pathophysiology of acute chest syndrome in sickle cell disease

Answer 4

• New pulmonary infiltrate on CXR with any or all of following
• 1)fever
• 2)chest pain
• 3)hypoxemia
• 4)wheezing
• 5)cough
• 6)respiratory distress

Question 5

List the organisms that functional asplenia/autosplenectomy in children with sickle cell disease are particularly susceptible to acquiring

Answer 5

• makes children susceptible to encapsulated organisms
  1) streptococcus pneumoniae
  2) Neisseria meningitidis
  3) klebsiella pneumoniae
  4) haemophilus influenzae
  5) salmonella typhi
  6) crytococcus neoformans
  7) pseudomanas aruginosa