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.
The cellular distribution of hemoglobin F is important for evaluating persistently elevated hemoglobin F levels, such as in hereditary persistence of fetal hemoglobin (HPFH) or delta/beta-thalassemia, and for differentiating homozygous hemoglobin S (or hemoglobin S-beta(0)-thalassemia) from hemoglobin S-HPFH, traditionally done by using the Kleihauer-Betke (K-B) acid elution test. We evaluated a flow cytometric method using an anti-hemoglobin F antibody as a replacement for the K-B test. We used 172 specimens representing a variety of conditions: HPFH trait, 19 cases; delta/beta-thalassemia trait, 8 cases; hemoglobin S-HPFH, 10 cases. By flow cytometry, all cases of HPFH trait gave a hemoglobin F pattern comparable to the homocellular pattern obtained by the K-B test; all cases of delta/beta-thalassemia tested gave a pattern comparable to a K-B heterocellular pattern. Most cases of hemoglobin S-HPFH gave a homocellular distribution of hemoglobin F whereas all cases of homozygous hemoglobin S with elevated hemoglobin F levels gave a heterocellular pattern. Flow cytometry provides a more rapid and objective method for assessing cellular distribution of hemoglobin F and is useful for patient evaluation when HPFH trait, delta/beta-thalassemia trait, or hemoglobin S-HPFH trait is suspected.
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Penz
Connie S
CS
Fairbanks
Virgil F
VF
Hanson
Curtis A
CA
Katzmann
Jerry A
JA
D000328:Adult; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000737:chemistry*; D005319:Fetal Hemoglobin / Q000032:analysis* / Q000235:genetics; D005434:Flow Cytometry / Q000379:methods*; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D005319:Fetal Hemoglobin