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.
Hemoglobinopathy Testing
Variant Hemoglobin Analysis:
- Quantitative Hemoglobin analysis by HPLC (QHGBE)
- Unstable hemoglobin testing (Isopropanol test)
- Detection of unknown hemoglobin variants (DNA sequencing of α, β, γ and δ globin genes)
- HPFH (Hereditary persistence of Fetal hemoglobin) by GAP PCR
- Hb Lepore analysis by GAP PCR
Thalassemia screening:
- Detection of common alpha thalassemia variants by PCR and reverse-hybridization.
- 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
- β – 1393bp thalassemia deletion by GAP PCR
- Aγδβ° (34 kb) thalassemia deletion by GAP PCR
Other Testing:
- MTHFR (5,10-methylenetetrahydrofolate reductase) gene analysis, common variants (eg,
677T, 1298C)
- HFE (hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)
- JAK2 (Janus kinase 2) gene analysis, Val617Phe (V617F) variant
- 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
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."
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