Also known as sickle cell anemia, is a genetic blood
disease due to the presence of an abnormal form of hemoglobin,
This disease is caused by an error in the gene that
makes the beta globin chain of hemoglobin. In sickle
the hemoglobin molecules tend to gather together after
form long, rod-like structures that force the red cells
to assume a sickle shape. Unlike normal red cells
the sickle red cells
cannot squeeze through small blood vessels.
The sickle cells block the vessels depriving the organs
of blood and oxygen. This leads to periodic episodes
of pain and damage to vital organs. Whereas normal
red blood cells last about 120 days in the bloodstream,
sickle red cells die in 10 to 20 days.
Because they cannot be replaced fast enough, the blood
is chronically short of red blood cells causing anemia.
Children who inherit 2 copies of the sickle gene, one
parent, will have sickle cell anemia. Children
who inherit the sickle gene from only one parent will
the disease, but will carry the sickle cell trait.
Individuals with this trait generally have no
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code D57.1
Test Requisition: Molecular Requisition
CPT Code: 81401 Cost:$322.00
Turn-around-time: 14 days