Ordering Recommendation

Preferred first-tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. Use to detect common as well as rare and novel deletions or duplications of the alpha globin gene cluster.




Multiplex Ligation-dependent Probe Amplification




7-14 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions

Room temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Background Information: Alpha Globin (HBA1 and HBA2) Deletion/Duplication
Alpha thalassemia is caused by decreased or absent synthesis of the hemoglobin alpha-chain resulting in variable clinical presentations. Alpha (+) thalassemia results from mutation of a single alpha2 globin gene (-a/aa) and is clinically asymptomatic (silent carrier). Alpha (0) thalassemia (trait) is caused by mutation of both alpha2 globin genes (-a/-a), or mutations in the alpha1 and alpha2 globin genes on the same chromosome, (--/aa) and results in mild microcytic anemia. Hemoglobin H disease occurs due to mutation of three alpha globin genes (--/-a) and results in hemolysis with Heinz bodies, moderate anemia, and splenomegaly. Hb Bart Hydrops Fetalis Syndrome results when mutations occur in all four alpha globin genes (--/--) and is lethal in the fetal or early neonatal period. Alpha globin gene triplications result in three active alpha globin genes on a single chromosome.
Carrier frequency in Mediterranean (1:30-50), Middle Eastern, Southeast Asian (1:20), African, African-American (1:3).
Autosomal recessive.
Pathogenic mutations in the alpha globin gene cluster.
Clinical Sensitivity:
Varies by ethnicity, up to 95 percent.
Multiplex ligation-dependent probe amplification (MLPA) of the alpha globin gene cluster (HBZ, HBM, HBA2, HBA1, HBQ1) and its HS-40 regulatory region.
Analytical Sensitivity and Specificity:
99 percent.
Diagnostic errors can occur due to rare sequence variations. Specific breakpoints of large deletions/duplications will not be determined; therefore, it may not be possible to distinguish mutations of similar size. This assay does not assess for non-deletional mutations within the coding or regulatory regions of the alpha globin cluster genes. Individuals carrying both a deletion and duplication within the alpha globin gene cluster may appear to have a normal number of alpha globin gene copies. Rare syndromic or acquired forms of alpha thalassemia associated with ATRX mutations will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2011623 Alpha Globin (HBA1/2) DelDup Specimen 31208-2
2011624 Alpha Globin (HBA1/2) DelDup Interp 90040-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • A globin
  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha thalassemia
Alpha Globin (HBA1 and HBA2) Deletion/Duplication