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