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Test ID: DBS Hemoglobinopathies
DBS Hemoglobinopathies
Screening newborns for Hemoglobinopathies
Useful For

Screening newborns for Hemoglobinopathies.

Method name and description

Cation exchange high performance liquid chromatography (HPLC).

Reporting name

DBS Hemoglobinopathies

Clinical information

Hemoglobinopathies are inherited blood disorders caused by mutations of the globin genes leading to qualitative or quantitative abnormalities of globin synthesis. The most commonly occurring hemoglobin (Hgb) variants include HgbD, HgbS, HgbF, HgbC and HgbE. 

Hemoglobinopathies conditions can be very different from one another. Some hemoglobinopathies can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild hemoglobinopathies may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe hemoglobinopathies are identified and treated early in life, affected children often can lead healthy lives.

Aliases

Neonatal Screening Test

DBS Hemoglobinopathies

Specimen type / Specimen volume / Specimen container

Specimen type: Whole blood collected from heel prick with direct application onto special Whatman 903 filter paper.

Specimen Volume: 5 Circles(spot) if ordered with the whole screening panel.

Minimum 2 spot if requested alone i.e., successive collection.  

Specimen container: Newborn screening Blood Spot Collection Card 

Collection instructions / Special Precautions / Timing of collection

Collection instructions:

1.Collect blood for newborn screening at 24 hours of age.

Transfused infants: Take the newborn screen sample prior to a blood transfusion. Blood transfusions are known to affect the screening for the hemoglobinopathies because the donor blood. If an infant has a blood transfusion prior to their newborn screen, a repeat whole blood sample should be obtained 4 to 6 months after their last transfusion.

2.Complete the required patient information on the collection card and ensure that the expiration date of the collection card has not passed.

3.Collect blood from the most medial or lateral portion of the plantar surface of the heel; allow blood to soak through to completely fill each of the preprinted circles; do not apply layers of successive blood drops to the same printed circle; inspect both sides of the collection card to be sure blood is soaked through to the back of the card.

4.Allow blood specimen to air dry for a minimum of three hours on a horizontally level, nonabsorbent, open surface at an ambient temperature of 18 to 25 °C.

5. Fold-over cover provides protection from contamination before blood collection, during specimen transportation and during specimen storage after analysis. Blood spots must be thoroughly dry before the flap is closed over spots.

6.The collection card/dried blood specimen should be transported to the laboratory with the appropriate tracking documentation and within 24 hours of collection.

Special Precautions

1.Premature infants who are less than 32 weeks of gestational age, screening must be repeated after the infant completes 32 weeks.  

2. Indicate the transfusion status and the date of latest transfusion on the newborn screening collection card.

Relevant clinical information to be provided

Transfusion status

Storage and transport instructions

Transport the specimen at ambient temperature. Newborn screening laboratory specimens have limitations with temperature and humidity conditions between collection and analysis and if the specimens could be subjected to extreme temperature during transit place a cold pack in the specimen transport insulated box.

The specimen must be sent immediately after drying to the laboratory (do not accumulate or batch the specimens). If the blood specimen is taken after midday, or during weekends, the sample should be sent to the laboratory the next working day.

Delays in specimen transportation from the collection facility maycompromise the integrity of the specimen and could critically impact the newborn.      

Specimen Rejection Criteria

• Specimen collected in expired Guthrie card 

• Insufficient quantity of blood             

 • Errors in patient identifiers.

• Specimen spots were damaged or delayed in transit.

• Diluted, discolored or contaminated specimens.

• Applying blood using capillary tubes or using anticoagulants (EDTA, citrate).

• Using white ink on the blood specimen filter paper.

Biological reference intervals and clinical decision values

• Normal screening result is reported as: “Normal”:No common hemoglobin variants (HbS/ HbC/ HbD/ HbE Disease and Trait, alpha/beta - thalassemia major) were detected. Other rare hemoglobin variants may not be detected. Alpha/beta - Thalassemia traits/minor or intermediate forms cannot be excluded.

• Report for an abnormal screening result includes a detailed interpretation of the results and overview of the results significance, possible differential diagnoses, and recommendations for confirmatory studies.

Factors affecting test performance and result interpretation

Specimens from transfused newborns are unsatisfactory because of interference by blood donor RBCs. If possible, the Newborn Screening specimen should be collected before any RBC transfusion. If a specimen cannot be collected before transfusion, another specimen collected at 120 days following the transfusion is required for valid hemoglobinopathy screening,

Turnaround time / Days and times test performed / Specimen retention time

Turnaround time: 7 days.

Days and times test performed: Saturday -Thursday 7:00am-3:00PM

Specimen retention time: Indefinite