Providing an accurate
diagnosis for patients.

Testing to diagnose and manage red blood cell abnormalities

Mayo Clinic’s Metabolic Hematology Laboratory is dedicated to providing accurate diagnoses and clinical interpretations for your patients.

Because the incidence of distinct red blood cell disorders can vary from common to rare, our cases are signed out by board-certified hematopathologists who:

  • Use comprehensive, reflexive algorithmic panels to help guide appropriate laboratory testing choices and minimize unnecessary assays.
  • Take the time to address all testing needs and do what’s medically right for every patient.
  • Collaborate with other experts across Mayo Clinic to perform a full range of testing approaches and capabilities.

For hematologists whose patient require only a single test, many components of our specialized evaluations can be ordered individually.

By the numbers

8

profiles for the evaluation of benign hematologic disorders

400+

hemoglobin variants identified with our laboratory testing, with over 30 first described by Mayo Clinic

4

next-generation sequencing panels specifically created for benign hematology




Our Benign Hematology evaluations

HAEV1 | Hemolytic Anemia Evaluation, Blood

Incorporates all testing related to nonimmune hemolytic anemia, including assays for unstable hemoglobin variants, red blood cell enzyme abnormalities, and red blood cell membrane disorders. It assumes a previous negative direct antiglobulin test (DAT) result.

HBEL1 | Hemoglobin Electrophoresis Evaluation, Blood

A reflexive evaluation for the identification of hemoglobin variants and beta thalassemias. The degree and complexity of testing is determined by the nature of the case, including the rarity of the hemoglobin variants present.

THEV1 | Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluates patients with unexplained microcytosis, suspected alpha thalassemia, or complex hemoglobinopathy/thalassemia disorders undetectable by electrophoresis alone. This evaluation also detects hemoglobin variants responsible for microcytosis (e.g., hemoglobins E or Lepore).

EEEV1 | Red Blood Cell (RBC) Enzyme Evaluation, Blood

A focused evaluation of hemolytic anemias caused by underlying red blood cell (RBC) enzyme defects.

MEV1 | Methemoglobinemia Evaluation, Blood

Evaluates patients with unexplained cyanosis or when methemoglobinemia or pesticide exposure is suspected.

REVE1 | Erythrocytosis Evaluation, Whole Blood

Evaluates patients with unexplained erythrocytosis and a negative JAK2 V617F result.

HEMP | Hereditary Erythrocytosis Mutations, Whole Blood

Recommended for patients presenting with lifelong erythrocytosis in whom a high-oxygen hemoglobin variant has been excluded by a normal p50 result, electrophoresis, and/or alpha and beta globin gene sequencing (see REVE and HBELC).

PLINK | Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood

Enables detection of small paroxysmal nocturnal hemoglobinuria (PNH) populations in early PNH and in patients with bone marrow failure syndromes (aplastic anemia and myelodysplasia).

Specialized Clinical Decision-Making

Hematopathologists James Hoyer, M.D., Jennifer Oliveira, M.D., and Aruna Rangan, M.B.B.S., lead a team with unparalleled depth and breadth of expertise in hemoglobin and red cell disorders. Mayo Clinic’s Metabolic Hematology Laboratory has identified more than 400 hemoglobin variants and described more than 30. The lab’s diagnostic genetic testing results are evaluated by board-certified genetic counselors who specialize in translating genetic information into clinical contexts. Our genetic counselors make their clinical decisions by focusing on the utility and limitations of specific genetic testing methods, familial genetic testing strategies, and genetic variant interpretation, and by identifying potential reproductive risks associated with a test finding.


Webinar - Erythrocytosis

The underlying causes of erythrocytosis (high hemoglobin/hematoctrit) have been progressively elucidated in recent years. The identification of the underlying causes has assumed greater importance with the identification of the JAK2 V617 mutation found in polycythemia vera and other myeloproliferative neoplasms.

Learn more about how to order these evaluations at your institution.

Additional Resources

By Samantha Rossi • December 2, 2020
By MCL Education • April 11, 2018
By brentwestra • September 9, 2016
By brentwestra • May 10, 2016
By brentwestra • September 23, 2015