Inherited Disorders of Erythrocyte Flashcards
What are some defects of the erythrocyte membrane?
Hereditary Spherocytosis
Hereditary Elliptocytosis
What is hereditary spherocytosis?
Inherited mutation in proteins that anchor RBC membrane to cytoskeleton of cell:
- Ankyrin
- Spectrin
- Protein 4.2
- Band 3
What is the symptom triad for Hereditary Spherocytosis?
- anemia
- jaundice
- splenomegaly
What is an aplastic crisis?
What can cause it?
And what is the necessary treatment?
When the bone marrow cannot produce and blood cells.
Parvovirus B19 “Fifth” Disease.
Requires transfusion.
What is the treatment for Hereditary Spherocytosis?
Supportive tx: folic acid (to help make DNA) and spleen production.
Symptomatic cure: splenectomy
What is Hereditary Elliptocytosis?
Weakness in membrane integrity (horizontal interaction) due to defect in the skeletal proteins:
- spectrin
- Protein 4.1
Name two hemoglobinopathies.
- Sickle cell anemia
- Thalassemia
What is Beta-Thalassemia?
Autosomal recessive mutation in the Beta-globin gene resulting in decreased production of Beta-globin and an imbalance of alpha-beta pairing.
Excess alpha chains precipitate and damage RBC membrane causing ineffective erythropoiesis.
What are the symptoms of Beta-Thalassemia?
- severe anemia
- hepatosplenomegaly
- bone marrow expansion
What is the main problem with giving blood transfusions to patients with Thalassemia?
High Fe deposition in blood.
- body cannot remove it fast enough
- can cause toxic effects (ex. on heart)
When do levels of fetal Hb decrease?
Around 6 months of age.
What is Sickle Cell Anemia?
Single nucleotide mutation causes Hb S to polymerize when it becomes deoxygenated.
RBC stiffens and deforms to sickle shape.
Causes sludging in capillaries, hemolysis, and recurrent infarctions.
What is the management of Sickle Cell Disease?
Supportive tx: hydration & pain control.
