13 Sickle Cell

  • 2 genes, 1 from each parent

  • A to T leads to aa substition

  • dehydration/acidosis: acute exacerbation
  • polymerize and make RBC form crescents
  • decrease ESR instead of up

Symptoms

  • hemolytic anemia similar to beta thalassemia major
  • vaso occlusion: more dangerous and unique symptoms

Hemolysis

  • sometimes simply rupture in vasculature

Vasoocclusion

  • heart, brain

  • first thing that happen

  • jagged femoral head

  • dehydration lead to sickling
  • can become dependent on narcotics

  • have spleen but not working

  • can die from infection
  • salmonella encapsulated, staph not
  • The spleen may demonstrate brownish discoloration (hemosiderosis) due to extensive ingestion of sickled RBCs by splenic macrophages (extravascular hemolysis).

  • fish bone: Osteomyelitis
  • sickle: In Sickle Cell disease

  • sickle: Increased risk of infection in sickle cell or asplenic patients

  • pooling of RBC in spleen from obstruction
  • children: spleen not yet fibrosis

  • treated with antibiotics because looks just like pneumonia. Don't know if microbe present or not

  • papillary necrosis

  • high concentration in medulla abolished

Treatment

Trait

Diagnosis

Malaria

  • most severe form
  • just as likely to be infected, less likely to die

Thalassemia

  • less beta production depending on how severe infection is

HbC

  • lysine more polar than valine: not as severe of a problem
  • lysing more positive than glutamate, less travel than HbS and Hb normal on electrophoresis
  • very rare to be homozygous

Hb SC

  • heterozygous: usually mild anemia without sickling
  • except HbS plus HbC