Name of the Procedure:

HBA1/HBA2 Gene Analysis for Alpha Thalassemia

Summary

This genetic test analyzes the HBA1 and HBA2 genes to identify common deletions or variants associated with alpha thalassemia and related blood disorders, such as Hb Bart hydrops fetalis syndrome and HbH disease.

Purpose

The purpose of this procedure is to diagnose alpha thalassemia and related conditions by detecting specific genetic deletions or variants. This helps in planning appropriate treatment and management strategies for affected individuals and their families.

Indications

• Family history of alpha thalassemia or related conditions.
• Symptoms like anemia, fatigue, or jaundice suggestive of a hemoglobin disorder.
• Individuals from regions with a high prevalence of alpha thalassemia (e.g., Southeast Asia, Mediterranean).
• Unexplained microcytic anemia.

Preparation

• No specific fasting or medication adjustments are usually required.
• A simple blood sample is collected for the genetic test.
• Some counseling may be provided to explain the implications of test results.

Procedure Description

1. A blood sample is collected from the patient.
2. DNA is extracted from the blood sample.
3. Genetic analysis techniques, such as PCR and multiplex ligation-dependent probe amplification (MLPA), are employed to detect deletions or variants in the HBA1 and HBA2 genes.
4. The results are analyzed and interpreted by a genetic specialist.

Duration

The procedure of collecting a blood sample takes about 5-10 minutes. The genetic analysis part takes about 1-2 weeks to complete in the laboratory.

Setting

Blood sample collection is typically performed in a hospital, outpatient clinic, or diagnostic laboratory.

Personnel

• Phlebotomist or nurse (for blood collection).
• Laboratory technologists and genetic specialists (for analysis).

Risks and Complications

• Minimal risks associated with blood sample collection, such as slight bruising or infection at the puncture site.
• No significant risks from the genetic analysis itself.

Benefits

• Accurate diagnosis of alpha thalassemia and related conditions.
• Helps in planning appropriate treatment and management.
• Informs family planning decisions for affected individuals.

Recovery

• No recovery time needed from the blood collection.
• Patients can resume normal activities immediately after the procedure.

Alternatives

• Hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) for preliminary screening of hemoglobin disorders.
• Genetic counseling and carrier screening can also be informative.

Patient Experience

• During the blood sample collection, mild discomfort from the needle prick may be experienced.
• Post-procedure, there are no specific sensations or side effects.
• Emotional support and counseling may be needed to cope with the results and implications of the genetic analysis.