August 20, 2015 - Sickle Cell Disease Flashcards
1
Q
Mechanism of Sickle Cell Disease
A
A single nucleotide change in the beta-globin gene from glutamic acid to valine. This is known as Hemoglobin S - a2B26Glu-Val. This results in abnormal hemoglobin function.
2
Q
Sickle Cell Nomenclature
A
HbSS - homozygous for disease
HbSA - heterozygous (asymptomatic)
* Can also be combined with other variant forms *
HbSC
HbSß-thalassemia
3
Q
Sickle Cell Diagnosis
A
Can be diagnosed with a peripheral blood smear or through molecular methods. Usually diagnosed between 6-12 months old as it is the beta-globin gene.
4
Q
Oxygen and Sickling
A
A lack of oxygen causes the RBCs to polymerize and sickle. This is why under extreme exercise, sickling episodes may occur.
5
Q
A