Clinical Chemistry - Hemoglobinopathies
Newborn Screening includes a screening test for abnormal hemoglobins S, C, and E and is performed only on infants six months of age or younger. For more information, click on Newborn Screening.
Hemoglobinopathy testing is offered as a follow-up test on specimens reported as abnormal by Newborn Screening and on infants greater than six months of age. It tests only for hemoglobin identification. This test is also used to screen blood samples from individuals and family studies for hemoglobin S (sickle cell) and other hemoglobinopathies. Isoelectric focusing (IEF) is used as a screening test and high performance liquid chromatography (HPLC) is performed on specimens determined to be abnormal by IEF. The Hemoglobinopathy services are available to public and private providers for the purposes of prenatal screening, family studies, and follow-up testing.
Specimen Identification, Collection and Shipment
- A hemoglobin electrophoresis filter paper collection DHHS form #1859 can be ordered from the Laboratory Mailroom by using the portal system to order supplies.
- Complete the entire identification section on the DHHS form #1859 with ballpoint pen, making sure all copies are legible. It is imperative that the following information is given: patient's name or unique identifier, patient or Social Security Number, address, sex, race, birth date, blood specimen collection date, transfusion information, Medicaid number, complete name and address of submitter, and EIN.
- Follow your institution’s procedures for performing heel or finger punctures. After skin is cleansed with alcohol, puncture heel or finger with sterile lancet.
- Fill each circle on the form with blood, making sure it soaks completely through the paper.
- Allow the sample to dry 4-6 hours at room temperature before mailing. Do not expose the sample to temperature extremes (heating or freezing), as this will render the sample unsatisfactory for use in the testing procedures.
- Mail specimen within 24 hours of collection. Write return address on envelope and add First Class postage. Do not mail specimens in plastic bags.
Whole Blood Specimen Submission and Testing
- The laboratory may request an EDTA whole blood sample in order to perform follow-up testing for certain previously reported hemoglobin screening results. Samples from the patient and/or both of the patient’s biological parents are necessary in order to provide definitive results. Whole blood testing is NOT to be used as a screening tool. Blood spots should be submitted for screening purposes.
- Listed below are the conditions by which whole blood family or study/follow-up testing may be requested:
- Disease states
- FA+Variant or A+Variant
- Not Definitive results
- Trait patients who are pregnant. Whole blood testing on the partners can be requested.
- Diseased patients being monitored by medical facilities.
- Abnormal results on original patient. Whole blood testing may be requested by physician when sibling/parent studies are needed.
- Suspected Beta Thalassemia due to family history (Please add requesting physician’s name to form).
- Complete the DHHS form #1859 for each specimen collected. Include patient name, patient number, address, birth date, race, sex, Medicaid number, patient phone number, date specimen collected, blood transfusion information, complete name and address of submitter, and EIN. For family study specimen submission, provide the original laboratory reference number, original name as submitted for newborn screening and date of birth of the infant. This information will allow the laboratory personnel to reference and link the family study results to each other. It is IMPERATIVE that the forms are filled out completely. Any missing information could result in longer turn-around time or unsatisfactory reports.
- Submit 5-7 ml of well-mixed blood collected in EDTA (lavender top) specimen collection tube. If the patient is an infant or young child, submit 0.5-1 ml of blood collected in EDTA (lavender top) microtainer specimen collection device. DO NOT apply blood to the filter portion of the form. Write patient name and date of birth on the specimen tube label. If using an adhesive label, do not cover up the tube expiration date or obscure view of the specimen because the lab personnel must assess specimen integrity before testing. Clotted blood is unsatisfactory for use. EDTA blood received greater than 7 days after collection is unacceptable. Blood submitted in expired EDTA tubes is unacceptable.
- Mail the specimen(s) on the same day of collection, if possible. Refrigerate at 4-6 degrees Celsius until specimen can be transported. If the specimen could be subjected to extreme temperatures in transit in summer, place a cold gel pack with the specimen in an insulated box for transport to the NCSLPH.
Reporting and Follow-up Procedures
- Normal results on blood spot specimens are usually reported within 48 hours 3 days after receipt in the Laboratory. Abnormal results are reported after further testing. A copy of each diseased patient report is sent to the Sickle Cell Program and Regional Counselors for follow-up.
- The whole blood methodology requires a longer time for completion than that of blood spot testing. Please allow a MINIMUM of 14 business days, from the time of receipt in the lab, before expecting patient results.
- There are testing limitations with respect to the identification of some hemoglobin variants. In these instances, the lab suggests referrals to a local hematologist.