Hemoglobinopathy

Hemoglobinopathies are inherited disorders in which there is abnormal production or structure of the hemoglobin molecule. They are the most common monogenic diseases and fall into two groups:

  • Hemoglobin structural variants are defects in the hemoglobin molecule, the best known of which is sickle cell anemia.
  • Thalassemia refers to the reduced production of either alpha or beta chains, such as in α-thalassemia.

Testing Algorithm

Hemoglobinopathy Testing

Test Number Test Name
2005792Hemoglobin Evaluation Reflexive Cascade
0050610Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility
0050520Hemoglobin S, Evaluation with Reflex to RBC Solubility
0050613Hemoglobin (Hb) A[2] and F by Column
0081348Hemoglobin F
2011622Alpha Globin (HBA1 and HBA2) Deletion/Duplication
0051495Alpha Thalassemia (HBA1 and HBA2) 7 Deletions
2011708Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
2010117Beta Globin (HBB) Sequencing and Deletion/Duplication
0050578Beta Globin (HBB) Gene Sequencing
2010113Beta Globin (HBB) Deletion/Duplication
0051421Beta Globin (HBB) HbS, HbC, and HbE Mutations
2001961Familial Mutation, Targeted Sequencing
2001980Familial Mutation, Targeted Sequencing, Fetal

Experts

Archana Mishra Agarwal, MD
Medical Director, Hematopathology and Special Genetics
Jay L. Patel, MD
Medical Director, Hematopathology Laboratory
Pinar Bayrak-Toydemir, MD, PhD
Medical Director, Molecular Genetics and Genomics Laboratory
Hunter Best, PhD
Medical Director, Molecular Genetics
Director, High Complexity Platforms—NGS
Yuan Ji, PhD
Medical Director, Molecular Genetics and Genomics
Rong Mao, MD
Medical Director, Molecular Genetics and Genomics

Additional Resources