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Alpha-Globin Common Mutation Analysis

Test code(s) 11175, 11174 (NY)

Question 1. My patient has a negative result on the Alpha-Globin Common Mutation Analysis test but has a low MCV. What should I do?

  • Consider eliminating iron deficiency anemia as a possibility.
  • In the absence of iron deficiency, there may be other genetic causes for a low MCV. Rare mutations in the alpha 1 and alpha 2 genes may be present and may be detectable through two other assays. Alpha-Globin Gene Sequencing (test code 16116X [or 16117X for New York State]) can detect point mutations in these genes. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X [or 16125X for New York State]) can detect other deletions or duplications of these genes.

Please call 866-GENE-INFO to discuss the case and additional testing options.

Question 2. I have a patient who had the test Alpha-Globin Common Mutation Analysis and only one gene deletion was identified. The patient has abnormal indices (MCV in the 60s, MCH in the low 20s, etc.), and there is no suggestion on electrophoresis of beta-thalassemia minor. What do I do next?

One would not expect to see such abnormal indices when there is only one gene deletion. In addition to the one gene deletion identified, the patient could have a point mutation or a rare deletion or duplication that would not be identified using the common mutation analysis test. The Alpha-Globin Gene Sequencing assay (test code 16116X [or 16117X for New York State) can detect point mutations in these genes. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X [or 16125X for New York State]) can detect other deletions or duplications of these genes.

Please call 866-GENE-INFO to discuss the case and additional testing options.

Question 3. My patient was found to be a carrier of a common mutation. What is the next step for family planning?

Both parents must be carriers for alpha-thalassemia in order for a pregnancy to be at risk. The partner should be screened to determine his/her hemoglobinopathy carrier status (test code 35489X, Hemoglobinopathy Evaluation). Molecular genetic testing of the partner may also be appropriate. Please call 866-GENE-INFO to discuss the case with a genetic counselor.

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
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