Collect whole blood in a purple top (EDTA) tube.
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
Beta thalassemia is characterized by severe anemia, growth retardation, splenomegaly, bone changes with characteristic facies and iron depositions affecting cardiac and endocrine systems. Beta thalassemia is characterized by hypochromic, hemolytic anemia and dependence on blood transfusions to sustain life. Even with chelation therapy to remove excess iron stores, the life expectancy in classic beta thalassemia major is shortened to 25-30 years on average.
It has been estimated that 3% of the world’s population carries a beta thalassemia gene. These carriers, individuals with beta thalassemia trait, are essentially normal, although they can be detected by lowered mean corpuscular volume (MCV) typically <80fl, lowered mean corpuscular hemoglobin value (MCH) typically <26-34 pg/rbc and an elevated A2 level, typically 4.5-6.0. Determination of these values as well as ethnicity are very useful in diagnosis and should be obtained whenever possible.
The HBB gene is located on chromosome 11p15.5. The inheritance pattern is autosomal recessive. Beta thalassemia is caused by decreased or absent ß-globin chain production. The sickle cell mutations are found at codon 7 (HbS and HbC) while beta thalassemia mutations are found throughout the gene.
We offer DNA sequence analysis for sickle cell (HbS) mutations which are detected by sequencing the beta globin coding region and part of the intervening sequences. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members.
This assay will detect over 100% of HbS and HbC alleles. The analytical sensitivity is close to 100%.
Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.
The clinical utility of the assay is to confirm a diagnosis of sickle cell disease; identify carriers sickle cell trait and to facilitate prenatal testing and counseling for reproductive risk.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
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