Hemoglobin Diagnostic Reference Laboratory

The Hemoglobin Diagnostic Reference Laboratory at Boston Medical Center provides clinical, genetic, and laboratory correlation and consultation, and is one of only three labs in the United States to conduct hemoglobin diagnostics testing. Our Laboratory is CAP and CLIA certified. We’re also an integral part of The Center of Excellence in Sickle Cell Disease.

Hemoglobin Diagnostic Reference Laboratory
670 Albany Street, 3rd Floor Room 328, Boston MA 02118
Telephone: 617-414-5312 | Fax: 617-414-5315 | Email: hemoglobin@bmc.org

Our laboratory specializes in hemoglobin and DNA-based mutational analyses to diagnose:

  • Clinically important variant hemoglobins:
    • Sickle cell anemia, e.g. Hb S, C, D, O, Quebec-Chori, S-South End.
    • HPFH (Hereditary Persistence of Fetal Hemoglobin)
    • Hemolytic anemia caused by unstable variant hemoglobins.
    • Thalassemia, e.g. Hb E, Malay.
    • Erythrocytosis caused by high oxygen affinity variant hemoglobins.
    • Low blood oxygen saturation caused by low oxygen affinity variant hemoglobins.
    • Cyanosis caused by hereditary methemoglobinemias.
  • Thalassemia mutations that markedly decrease or abolish globin chain production:
    • β -Thalassemias, both common and uncommon point mutations, and deletions.
    • α -Thalassemias, both deletions and point mutations.

Available Tests

  • Prenatal testing: CVS Tissue, Amniocytes, Cultured cells (Amniocytes, CVS)
  • DNA sequencing: of alpha, beta, gamma, and delta globin genes
  • Gap-PCR: for KNOWN deletions in the alpha and beta globin genes
  • MLPA: (Multiplex, Ligation dependent, Probe, Amplification) for Unknown Deletions in the alpha or beta globin gene
  • ARMS test for Mutations, QTL’s, and SNP’s
  • Isoelectric focusing (IEF): to identify variant hemoglobins
  • Real-Time PCR

Laboratory Correlation and Consultation

  • Blood Sample Required
  • 2 tubes of EDTA-anticoagulated blood (lavender top tube, at least 5 ml), less in children. Best practice for molecular diagnostics dictates samples > 5days old cannot be tested and will  be rejected

For requisition forms and information regarding sending blood samples:

Please email hemoglobin@bmc.org for additional information or clarification.


  • The α-globin gene cluster is on the short arm of chromosome 16.
  • The β-globin gene cluster is on the short arm of chromosome 11.
  • Globin gene mutations are the most common hereditary monogenic disease in man.
  • There are now over 1,200 known natural globin gene mutations.
  • These are tabulated in Globin Gene Server
  • These mutations are found in ALL populations, but more prevalent in people from Africa, Mediterranean region, Eastern Europe, Middle East, Indian subcontinent, and southeast Asia, the so-called “malaria belt.”
  • In some populations, carriers of sickle cell hemoglobin or thalassemia can range from 10% to 40%.
  • With increasing racial and ethnic diversity in our country, hemoglobin disorders are now encountered more frequently than ever.
  • With an increasing ethnic mix of populations, unusual combinations of globin gene mutations, each of which alone might be innocuous, could result in severe clinical syndromes.
  • For the best possible patient care and counseling, accurate genetic diagnosis is required.


  • Director: Eric Burks, MD
  • Associate Director: Hong-yuan Luo, MB, PhD
  • Laboratory Manager: Thomas Maher, MS

CPT codes

  • 83020   Hemoglobin fractionation and quantitation; electrophoresis
  • 83021   Hemoglobin fractionation and quantitation; chromatography
  • 81257   HBA1/HBA2 Common deletions or variants
  • 81269   HBA1/HBA2 Gene Analysis DUP/DEL Variants
  • 81259   HBA1/HBA2 Gene Analysis Full Gene Sequence
  • 81363   HBB Duplication/Deletion Variants
  • 81364   HBB Full Gene Sequence
  • 81479   Unlisted Molecular Procedures
  • G0452  Molecular Diagnostic Interpretation & Report