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Test ID: HPFH Hemoglobin F Distribution, Blood

Reporting Name

Hb F Distribution, B

Useful For

Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F)

 

Determining the distribution of Hb F within red blood cells

Specimen Type

Whole Blood EDTA


Advisory Information


This test is for hereditary persistence of fetal hemoglobin only. For testing for possible fetal-maternal bleed, see FMB / Fetomaternal Bleed, Flow Cytometry, Blood.



Necessary Information


 



Specimen Required


Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE1 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood


Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated 14 days

Reference Values

Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE1 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood

 

Reported as heterocellular or homocellular

Day(s) and Time(s) Performed

Monday through Saturday; Continuously (Reported Monday through Friday)

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

88184

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HPFH Hb F Distribution, B 4579-9

 

Result ID Test Result Name Result LOINC Value
8270 Hb F Distribution, B 4579-9
2104 Interpretation 59466-3

Clinical Information

More than 75% of the hemoglobin of the newborn is hemoglobin (Hb) F; it diminishes over a period of several months to adult levels, reducing to less than 2% by age 1 and less than 1% by age 2.

 

Hb F may constitute 90% of the total Hb in patients with beta-thalassemia major or other combinations of beta thalassemia and fetal Hb (hereditary persistence of fetal hemoglobin: HPFH) variants.

 

Hb F is often mildly to moderately elevated in sickle cell disease, aplastic anemia, acute leukemia, and myeloproliferative disorders such as juvenile myelomonocytic leukemia (JMML), hereditary spherocytosis, and alpha-thalassemia minor. It is commonly increased in hemoglobinopathies associated with hemolysis. Hb F increases to as high as 10% during normal pregnancy. Hb F is also increased due to medications such as hydroxyurea, decitabine, and lenalidomide. Elevation in Hb F has a been cited as a discriminator between Diamond-Blackfan congenital pure red cell aplasia (elevated) and transient erythroblastopenia of childhood (normal), but whether this simply reflects the chronicity of anemia inherent to the former condition rather than a specific finding is unclear.

 

In the common (large deletional) form of the genetic trait HPFH, all of the erythrocytes contain Hb F. When tested by flow cytometry using specificity for Hb F, these HPFH cases display a homocellular distribution pattern of Hb F within the red cell population. Other causes of increased Hb F including delta beta thalassemia, hydroxyurea, and some nondeletional HPFH variants typically display a heterocellular distribution of Hb F within the erythrocytes, reflecting disparate populations of F cells and cells lacking Hb F. Quantification of Hb F percentage should be determined prior to flow cytometry of Hb F red cell distribution to establish the appropriateness of this test. The flow cytometry analysis of elevated Hb F levels is useful when Hb F percentage is 15% to 35% and the clinical differential diagnosis includes large deletional HPFH. Hb F percentages below 15% are likely not due to large deletional HPFH, and causes of Hb F percentages above 35% are better confirmed by molecular and family studies.

Interpretation

Homocellular distribution of fetal hemoglobin (Hb) is found in large deletional hereditary persistence of fetal Hb (HPFH).

 

Heterocellular distribution is found in delta beta thalassemia, medication induced, and other causes of increased Hb F.

Clinical Reference

1. Kleihauer E, Braun H, Betke K: Demonstration von fetalem Hamoglobin in den Erythrocyten eines Blutaustrichs. Klin Wschr. 1957;35:637-638

2. Shepard MK, Weatherall DJ, Conley CC: Semi-quantitative estimation of the distribution of fetal hemoglobin in red cell populations. Bull Johns Hopkins Hospital. 1962;110:293-310

3. Davis BH, Olsen S, Bigelow NC, Chen JC: Detection of fetal red cells in fetomaternal hemorrhage using a fetal hemoglobin monoclonal antibody by flow cytometry. Transfusion. 1998;38:749-756

4. Hoyer JD, Penz CS, Fairbanks VF, et al: Flow cytometric measurement of hemoglobin F in RBCs: diagnostic usefulness in the distinction of hereditary persistence of fetal hemoglobin (HPFH) and hemoglobin S-hPFH from other conditions with elevated levels of hemoglobin F. Am J Clin Pathol. 2002 Jun;117(6):857-863

5. Stephens AD, Angastiniotis M, Baysal E, et al: International Council for The Standardisation of Haematology (ICSH). ICSH recommendations for the measurement of haemoglobin F. Int J Lab Hematol. 2012 Feb;34(1):14-20

Analytic Time

2 days (Not reported on Saturday or Sunday)

Method Name

Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE1 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood

 

Flow Cytometry

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

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