Titus HJ Huisman Hemoglobinopathy Lab
The Titus H.J. Huisman Hemoglobinopathy Laboratory at the Medical College of Georgia at Augusta University is an international testing and reference center for sickle cell disease, thalassemia and other hemoglobin disorders.
The laboratory, one of few in the country that studies abnormal hemoglobins, is a resource for researchers and clinicians throughout the country and beyond.
The laboratory, under the direction of Dr. Abdullah Kutlar and Niren Patel, is CAP- and CLIA-certified, fully qualified to offer expert assistance to hemoglobin specialists worldwide.
Contact Us
Huisman Hemoglobinopathy Lab
Health Sciences Campus
Monday - Friday
8:00 am-5:00 pm
706-721-9640
(706) 721-9637
Hemoglobinopathy Testing
Variant Hemoglobin Analysis:
- Quantitative Hemoglobin analysis by HPLC (QHGBE)
- Detection of unknown hemoglobin variants (DNA sequencing of α, β, γ and δ globin genes)
- HPFH (Hereditary persistence of Fetal hemoglobin) by GAP PCR
Thalassemia screening:
- Detection of common alpha thalassemia variants by PCR and reverse-hybridization.
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- Deletions: -3.7kb, -4.2kb, -20.5kb, - - MED, - - SEA, - - THAI, - - FIL
- Mutations: α1 cd 14 (G>A), Hb Adana, anti -3.7 triplication, α2 init cd (T>C), α2
cd 19 (-G), α2 IVS 1(-5nt), α2 cd 59 (G>A), Hb Quong Sze, Hb Constant Spring, Hb Icaria,
Hb Pakse, Hb Koya Dora, α2 poly A-1, and α2 poly A-2
- Detection of uncommon alpha thalassemia mutation by α globin (HBA) gene sequencing
- Detection of beta thalassemia by β Globin (HBB) Gene Sequencing
If negative, then the following tests may also be performed:
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- β – 1393bp thalassemia deletion by GAP PCR
- Aγδβ° (34 kb) thalassemia deletion by GAP PCR
Other Testing:
- BCR/ABL1 qualitative assay (Initial diagnosis of BCR-ABL fusion gene transcript)
- BCR/ABL1 major breakpoint (p210) quantitative assay
- BCR/ABL1 minor breakpoint (p190) quantitative assay
- BCR/ABL1 mutation analysis - ABL1 gene analysis for variants in the kinase domain (KDMA)
FAQs
What is the process for ordering a test?
Complete the Laboratory Consultation Request Form and submit that form with the specimen.
Where do I ship the specimen?
Ship the properly packaged specimen with the completed form to:
Department of Medicine, Sickle Cell Center
THJH Hemoglobinopathy Laboratory
989 St Sebastian Way, EF-201, Augusta, GA 30912
How will you communicate the results with me?
We can provide your results using fax or secure e-mail. If you would like e-mailed results, provide your e-mail address in the comments section of the Laboratory Consultation Request Form.
What if I need expedited results?
If you need expedited results, please indicate on the lab consultation form and contact lab staff to speak to you about your request.
- Call 706-721-9640 to leave a message indicating need for an expedited test and staff will return your call to confirm or
- Send an e-mail requesting a call back or provide a detailed message (if you are sending from a secure server) and we will contact you to confirm your request.
What if I have other questions?
Please contact our lab at CFBDlab@augusta.edu or 706-721-9640
Where are my results?
Typical turnaround times for results will vary based on multiple factors including the complexity of the results, which may require additional tests to be performed to ensure a correct diagnosis.
Although we frequently return results is less time, please use the expected turnaround times listed below as a point of reference.
Turnaround times are based on date of receipt of blood sample in our laboratory through notification of results.
- Standard HPLC: 1 week
- DNA testing: 4 weeks
- Thalassemia screening: 2 – 4 weeks
- Other testing: 1 – 3 weeks
We will contact you before the end of the typical turn around period if your specimen is delayed to explain the cause and provide an expected result date.
If the turnaround time has been exceeded and you have not been contacted, please send a message to CFBDlab@augusta.edu and we will respond within 24 hours (excluding weekends).
Our History
Dr. Titus H. J. Huisman (1959-95) led hemoglobin research and later the Sickle Cell Center. His laboratory discovered a large number of the approximately 700 known hemoglobin variants and enticed scientists and researchers from all parts of the world to come to the Medical College of Georgia, now a vital part of Augusta University.
In June 2000, a dedication ceremony was held in memory of Dr. Huisman and the Laboratory was officially named "Titus H. J. Huisman Hemoglobinopathy Laboratory."