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.

Patient Services

Hemoglobinopathy Testing

Variant Hemoglobin Analysis:

  1. Quantitative Hemoglobin analysis by HPLC (QHGBE)
  2. Unstable hemoglobin testing (Isopropanol test)
  3. Detection of unknown hemoglobin variants (DNA sequencing of α, β, γ and δ globin genes)
  4. HPFH (Hereditary persistence of Fetal hemoglobin) by GAP PCR
  5. Hb Lepore analysis by GAP PCR


Thalassemia screening:image of thalassemia testing in a vial

  1. Detection of common alpha thalassemia variants by PCR and reverse-hybridization.
  2. Deletions: -3.7kb, -4.2kb, -20.5kb, - - MED, - - SEA, - - THAI, - - FIL
  3. 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
  4. Detection of uncommon alpha thalassemia mutation by α globin (HBA) gene sequencing
  5. Detection of beta thalassemia by β Globin (HBB) Gene Sequencing
  6. β – 1393bp thalassemia deletion by GAP PCR
  7. Aγδβ° (34 kb) thalassemia deletion by GAP PCR


Other Testing:

  1. MTHFR (5,10-methylenetetrahydrofolate reductase) gene analysis, common variants (eg, 677T, 1298C)
  2. HFE (hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)
  3. JAK2 (Janus kinase 2) gene analysis, Val617Phe (V617F) variant
  4. BCR/ABL1 qualitative assay (Initial diagnosis of BCR-ABL fusion gene transcript)
  5. BCR/ABL1 major breakpoint (p210) quantitative assay
  6. BCR/ABL1 minor breakpoint (p190) quantitative assay
  7. BCR/ABL1 mutation analysis - ABL1 gene analysis for variants in the kinase domain

Contact Us

Huisman Hemoglobinopathy Lab

Health Sciences Campus

Walter L. Shepeard Building


Our History

Dr. Huisman pictured in the lab



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."