Contributions
Abstract: PB1979
Type: Publication Only
Background
Hereditary Spherocytosis (HS) is the most common non-immune congenital hemolytic anemia in individuals of northern European ancestry, ranging from an asymptomatic condition to a severe life-threatening anemia (1). HS severity is classified as Mild, Moderate and Severe according to reticulocyte count, hemoglobin (Hb) and bilirubin levels (1). Mild HS cases are more difficult to diagnose, once the complementary tests, Osmostic Fragility (OF) and cryohemolysis (CH) tests, often fail to identify less severe cases. CH was proposed as a more specific/sensitive diagnostic tool for HS however, it still gives false negative results (2).
Aims
Our aim was to evaluate the reliability of CH test in Portuguese patients previously diagnosed with HS, and to search for other biomarkers.
Methods
We studied 30 healthy individuals (matched for age and gender with patients) and 82 unsplenectomized HS patients (48 with mild, 27 with moderate and 6 with severe anemia). We performed the OF and CH tests (3); evaluated the red blood cell (RBC) count, Hb concentration, hematocrit (HCT), mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC) and red cell distribution width (RDW) (3); reticulocyte count and bilirubin levels were also assessed (3). To evaluate differences between groups we performed the Mann–Whitney U test, as most variables presented a non-Gaussian distribution. A p value <0.05 was considered as statistically significant.
Results
For Moderate and Severe HS, CH test was an excellent diagnosis tools; however, it gave false negative results in 17 out of the 48 Mild HS patients [using the cutoff value for normal CH test (2)]. We compared data (Table 1) from control and two sets of Mild HS: False Negative and Positive CH test groups. When compared to Control, the Positive mild HS group showed significant differences for all variables, except Hb and MCV; the False Negative group presented no significant differences to control group, except a significant increase in RDW. All studied parameters were significantly different, when comparing False Negative and Positive groups, except for Hb and MCV.
Conclusion
Our data show CH test failed HS diagnosis in 35.4% of Mild HS cases, while only 10.4% of mild HS patients had a RDW lower than the cut-off reference value of 14.0% (1), suggesting that RDW deserves further studies as a useful marker for detection of Mild HS cases.
(1) Bolton-Maggs, P et al. Br J Haematol. 2011, 156:37–49;
(2) Iglauer, D et al. Ann. Hematol. 1999, 78:555–557;
(3) Rocha et al. Blood Cells Mol. Dis. 2011, 46:166-170.
Acknowledgments: Financial support from FCT/MEC through national funds and co-financed by FEDER, under the Partnership Agreement PT2020 (UID/MULTI/04378/2013 – POCI/01/0145/FERDER/007728) and Norte Portugal Regional Coordination and Development Commission (CCDR-N)/NORTE2020/Portugal 2020 (Norte-01-0145-FEDER-000024).
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Clinical outcome, Diagnosis, Hereditary spherocytosis
Abstract: PB1979
Type: Publication Only
Background
Hereditary Spherocytosis (HS) is the most common non-immune congenital hemolytic anemia in individuals of northern European ancestry, ranging from an asymptomatic condition to a severe life-threatening anemia (1). HS severity is classified as Mild, Moderate and Severe according to reticulocyte count, hemoglobin (Hb) and bilirubin levels (1). Mild HS cases are more difficult to diagnose, once the complementary tests, Osmostic Fragility (OF) and cryohemolysis (CH) tests, often fail to identify less severe cases. CH was proposed as a more specific/sensitive diagnostic tool for HS however, it still gives false negative results (2).
Aims
Our aim was to evaluate the reliability of CH test in Portuguese patients previously diagnosed with HS, and to search for other biomarkers.
Methods
We studied 30 healthy individuals (matched for age and gender with patients) and 82 unsplenectomized HS patients (48 with mild, 27 with moderate and 6 with severe anemia). We performed the OF and CH tests (3); evaluated the red blood cell (RBC) count, Hb concentration, hematocrit (HCT), mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC) and red cell distribution width (RDW) (3); reticulocyte count and bilirubin levels were also assessed (3). To evaluate differences between groups we performed the Mann–Whitney U test, as most variables presented a non-Gaussian distribution. A p value <0.05 was considered as statistically significant.
Results
For Moderate and Severe HS, CH test was an excellent diagnosis tools; however, it gave false negative results in 17 out of the 48 Mild HS patients [using the cutoff value for normal CH test (2)]. We compared data (Table 1) from control and two sets of Mild HS: False Negative and Positive CH test groups. When compared to Control, the Positive mild HS group showed significant differences for all variables, except Hb and MCV; the False Negative group presented no significant differences to control group, except a significant increase in RDW. All studied parameters were significantly different, when comparing False Negative and Positive groups, except for Hb and MCV.
Conclusion
Our data show CH test failed HS diagnosis in 35.4% of Mild HS cases, while only 10.4% of mild HS patients had a RDW lower than the cut-off reference value of 14.0% (1), suggesting that RDW deserves further studies as a useful marker for detection of Mild HS cases.
(1) Bolton-Maggs, P et al. Br J Haematol. 2011, 156:37–49;
(2) Iglauer, D et al. Ann. Hematol. 1999, 78:555–557;
(3) Rocha et al. Blood Cells Mol. Dis. 2011, 46:166-170.
Acknowledgments: Financial support from FCT/MEC through national funds and co-financed by FEDER, under the Partnership Agreement PT2020 (UID/MULTI/04378/2013 – POCI/01/0145/FERDER/007728) and Norte Portugal Regional Coordination and Development Commission (CCDR-N)/NORTE2020/Portugal 2020 (Norte-01-0145-FEDER-000024).
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Clinical outcome, Diagnosis, Hereditary spherocytosis