Hereditary Anemias Flashcards
What is the most effective disease-modifying drug available for SCD?
- Hydroxyurea
* increases HbF*
All hereditary anemias will lead to what?
- hemolysis
What mutation causes sickle cell disease?
point mutation at codon 6 in Hgb B chain converting glutamic acid to valine
HbSS is clinically diagnosed with what test?
Hgb electrophoresis
How is thalassemia screened? How is it confirmed?
- Hgb electrophoresis to screen
- Hgb genetic analysis to confirm
What values are seen in Hgb and reticulocyte count with sickle cell disease?
- Hgb = 6-10
- Reticulocyte count = 15-40%
What is the most common genetic disorder among african americans?
- sickle cell disease
Thalassemia are a group of disorders associated with a reduction in what?
- Hgb chain production
What is the major adult Hgb type?
HbA: alpha 2 beta 2
If a patient with HbSS presents with acute chest syndrome what is the treatment of choice?
- exchange transfusion
As a result of increased iron absorption and regular RBC transfusion, Thalassemia patients can develop this condition by the second decade of life.
secondary hemosiderosis
unless chelated
Bite and blister cells are consistent with what disorder?
G6PD Deficiency
What is the most common enzyme deficiency in the world?
- glucose-6-phosphate dehydrogenase deficiency
Patients who have SCD and a functional asplenia for greater than 6 years are at an increased risk of death from what?
- overwhelming sepsis (encapsulated organisms)
Heinz bodies are consistent with what disorder?
G6PD Deficiency
If you suspect someone has G6PD when should a G6PD enzyme assay be done for diagnosis?
- 6-8 weeks after hemolysis occurs
How is hereditary spherocytosis treated?
- splenectomy
Normocytic hyperchromic anemia is concerning for what disorder?
- hereditary spherocytosis
Supplementation with this mineral is important for patients with SCD.
- folate
What genetic inheritance pattern is seen in sickle cell disease?
- autosomal recessive
This is an autosomal dominant hereditary RBC cytoskeletal defect in any of the cytoskeletal proteins.
- Hereditary spherocytosis
Thalassemia presents as what type of anemia?
-microcytic, hypochromic anemia
What is considered a “normal” hemoglobin genotype?
- HbAA
What finding on electrophoresis is consistent with Beta Thalassemia?
- HbA2 will be elevated
