Alpha-Globin Common Mutation Analysis

• 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.

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.

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.