Alpha Thalassemia (HBA1 and HBA2) 7 Deletions
Ordering Recommendation

Acceptable first-tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. Assesses for seven common alpha globin gene deletions.

Polymerase Chain Reaction/Gel Electrophoresis
Mon, Thu
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
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
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Alpha Thalassemia (HBA1 andHBA2) 7 Deletions:
Alpha (+) thalassemia (silent carrier): Mutation of a single alpha2 globin gene (-α/αα); asymptomatic. Alpha (0) thalassemia (trait): Mutation of both alpha2 globin genes, or deletion of alpha1 and alpha2 globin genes in cis (-α/-α;--/αα); mild microcytic anemia possible. Hemoglobin H disease: Mutation of three alpha globin genes (--/-α); hemolysis with Heinz bodies, moderate anemia, and splenomegaly. Hb Bart Hydrops Fetalis Syndrome: Mutation of four alpha globin genes (--/--); lethal in fetal or early neonatal period.
Carrier frequency in Mediterranean (1:30-50), Middle Eastern, Southeast Asian (1:20), African, African-American (1:3).
Autosomal recessive.
Mutations in the alpha globin gene cluster; 95 percent are deletions.
Mutations Tested:
Clinical Sensitivity:
Varies by ethnicity, may be as high as 90 percent.
Polymerase chain reaction and gel electrophoresis.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Rare alpha globin gene deletions, non-deletion mutations, gene duplications, and mutations of the regulatory region will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051501Alpha Thalassemia, 7 Deletions66502-6
2001293Alpha Thalassemia, Specimen31208-2
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  • alpha globin mutation deletions
  • HBA1, HBA2