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Clinical Chemistry - Hemoglobinopathies

Isoelectric focusing electrophoresis (IEF) is used to screen for sickle cell and other hemoglobinopathies. High performance liquid chromatography (HPLC) is also done on those specimens determined to be abnormal by the screening procedure. These services are available to public and private providers.

Specimen Identification, Collection and Shipment

1. A hemoglobin electrophoresis filter paper collection DHHS form #1859 is available from the Laboratory Mailroom (919-733-7656).
2. Complete the entire identification DHHS form #1859 with ballpoint pen or type, making sure all copies are legible. It is imperative that the following information is given: patient's name, Social Security Number, address, sex race, birth date, blood specimen collection date, transfusion information, Medicaid number, complete name and address of submitter, EIN#.
3. After skin is cleansed, puncture heel or finger with sterile lancet.
4. Fill each circle with blood, making sure it soaks completely through the paper.
5. 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.
6. 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

• he laboratory may request EDTA whole blood submission 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.
• isted below are the conditions by which whole blood family study/follow-up testing is 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, EIN#, screening test (first testing) or family study. 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 specimen collected on the specimen tube. DO NOT PLACE ADHESIVE LABELS on the specimen tube 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, a refrigerated pack or dry ice is recommended to be included for transport.
• The whole blood methodology requires a longer time for completion than that of blood spot testing. Please allow a MINIMUM of ten 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.
• Healthcare providers will be contacted directly when whole blood submissions arrive that are unsatisfactory, so that patient samples can be recollected without delay.
• Records are retained for two (2) years.

Reporting and Follow-up Procedures

• Normal results are usually reported within 48 hours 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.
• Records of laboratory results are filed by date of receipt in this Laboratory. Records are retained for two (2) years

See also:

• About Clinical Chemistry
• Blood Lead
• Hemoglobinopathies
• Blood Grouping & Rh Typing

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