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.

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2
Q

Sickle Cell Nomenclature

A

HbSS - homozygous for disease

HbSA - heterozygous (asymptomatic)

* Can also be combined with other variant forms *

HbSC

HbSß-thalassemia

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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.

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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.

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5
Q
A
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