• 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.

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.
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:

b-Thalassemias, both common and uncommon point mutations, and deletions.
a-Thalassemias, both deletions and point mutations.

• Hereditary persistence of fetal hemoglobin (HPFH)

We provide clinical / genetic / 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:
  
  REQUISITION FORM AND CHARGES (3 pages)
  BLOOD SAMPLE DELIVERY INSTRUCTIONS
  CPT CODES
  
  
• Please email hemoglobin@bmc.org for additional information or clarification.

Laboratory Certification

• Our laboratory is CAP certified (The College of American Pathologists)

• CLIA accredited (The Clinical Laboratory Improvement Amendments Center for Medicare and Medicaid Services)

• Is an integral part of: 
  
  The Center of Excellence in Sickle Cell Disease
   

• Is associated with:
  
  The Center for Human Genetics
  The Mass Spectrometry Resource