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Sickle Cell disease

 

Gene Reviews

Also known as sickle cell anemia, is a genetic blood disease due to the presence of an abnormal form of hemoglobin, specifically hemoglobin S.

This disease is caused by an error in the gene that makes the beta globin chain of hemoglobin. In sickle cell anemia, the hemoglobin molecules tend to gather together after unloading oxygen. They 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 from each parent, will have sickle cell anemia. Children who inherit the sickle gene from only one parent will not have the disease, but will carry the sickle cell trait. Individuals with this trait generally have no symptoms.

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: 81361 Cost:$322.00 (Oklahoma Medicaid requires preauthorization for this test)

Turn-around-time: 21 days

Specimen Requirements

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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