Italian 
English CASI CLINICI – Case Reports
Volume:
Biochimica Clinica 2020; 44(3) e027-e029
Pubblicato on-line:
Febbraio 14, 2023
DOI:
10.19186/BC_2020.076
Una variante emoglobinica co-migrante con le normali frazioni emoglobiniche in HPLC
A hemoglobin variant co-migrating with normal hemoglobin fractions in HPLC
AUTORI
1Laboratorio Analisi, Ospedale S. Jacopo, Azienda USL Toscana Centro, (PT)
2Sebia-Italia S.r.l., Bagno a Ripoli, (FI)
33U.O.C. Medicina di Laboratorio, Ospedale di Treviso, ULSS2 Marca trevigiana (TV)4Già Laboratorio Genetica Umana, Ospedali Galliera, (GE)
ABSTRACT
A hemoglobin variant co-migrating with normal hemoglobin fractions in HPLC.
To date, approximately 1700 hemoglobin (Hb) variants have been identified, many of which are clinically silent. We report a hemoglobin variant visible only with capillary electrophoresis (CE). In a 65-year-old woman, using a high-performance liquid chromatography system (HPLC), HbF and HbA2were 19.3% and 0.7%, respectively, and no abnormal peaks were observed. Subsequent analysis by capillary electrophoresis (CE) showed an atypical profile with a clear presence of an abnormal Hb in the “zone Z14”. The molecular investigation of the globin genes confirmed a variation of the alpha1 c.271 A> G gene corresponding to Hb Sudbury. The HPLC analysis initially led to an incorrect interpretation of defects on gamma genes with production of hereditary persistence of HbF (HPFH) and on delta genes, a delta thalassemia. The combination of different technologies (such as CE and HPLC) can certainly be useful to detect new variants of hemoglobin and allowsmore correct diagnostic conclusions.