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 and are associated with The Center for Human Genetics and The Mass Spectrometry Resource.

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), less in children.

For requisition forms and information regarding sending blood samples:

Please email [email protected] 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: David H.K. Chui, MD
  • Associate Director: Hong-yuan Luo, MB, PhD
  • Laboratory Manager: Lance Davis, MD

CPT codes

  • 81257 Alpha globin deletion studies (7 common types)
  • 81401 Beta and gamma globin gene deletion studies
  • 81404 Beta or Gamma globin gene sequencing
  • 81405 Alpha globin gene sequencing