Hemoglobinopathy Laboratory
REFERENCE CENTER FOR HEMOGLOBIN DISORDERS

Diagnostic Services:

Routine tests for diagnosis of Hemoglobinopathies:

• Cellulose Acetate Electrophoresis (CAE)
• Citrate Agar Electrophoresis
• Thin Layer Isoelectric Focusing (TLIF)
• Ion Exchange HPLC (quantitative Hb A2, Hb F)
• Solubility Test
• Free Erythrocyte Protoporphyrin (FEP)
• Pitt Count

Molecular Assays:

• gap PCR
  • a-thalassemia mutations: -3.4, -4.2, SEA, FIL, MED, THAI, Constant-Spring
  • a-gene triplication
• SSOP (linear array)
  • b-globin variants: Hb S, Hb C, Hb E, Hb Knossos, Hb D-LA, Hb O-Arab
  • b-thalassemia mutations (42)
• DNA Sequencing
  • HPFH mutations: HPFH-1, HPFH-2, Hb Lepore, HPFH-3, HPFH-7
  • b-globin deletions: b-FIL, -619bp, Asian-Indian Inversion
  • a-globin, b-globin, g-globin genes
• RFLP Analysis
  • b-globin haplotypes (SEN, BEN, CAR, Cameroon, Arab)

Specialized tests for diagnosis of other hemoglobin and red blood cell disorders:

• Isopropanol Precipitation Test (for unstable hemoglobins)
• Heat Stability Test (for unstable hemoglobins)
• Brilliant Cresyl Blue (BCB) (for RBC Inclusion Bodies
• Acetylphenylhydrazine (for Heinz bodies)
• Reverse Phase HPLC
• Ektacytometry
• Oxygen Dissociation Curve (p50)
• 2,3-DPG
• ADVIA RBC characterization