Abstract
(1) Background: The aim of the present study was to compare oxygen gradient ektacytometry parameters between sickle cell patients of different genotypes (SS, SC, and S/β+) or under different treatments (hydroxyurea or chronic red blood cell exchange). (2) Methods: Oxygen gradient ektacytometry was performed in 167 adults and children at steady state. In addition, five SS patients had oxygenscan measurements at steady state and during an acute complication requiring hospitalization. (3) Results: Red blood cell (RBC) deformability upon deoxygenation (EImin) and in normoxia (EImax) was increased, and the susceptibility of RBC to sickle upon deoxygenation was decreased in SC patients when compared to untreated SS patients older than 5 years old. SS patients under chronic red blood cell exchange had higher EImin and EImax and lower susceptibility of RBC to sickle upon deoxygenation compared to untreated SS patients, SS patients younger than 5 years old, and hydroxyurea-treated SS and SC patients. The susceptibility of RBC to sickle upon deoxygenation was increased in the five SS patients during acute complication compared to steady state, although the difference between steady state and acute complication was variable from one patient to another. (4) Conclusions: The present study demonstrates that oxygen gradient ektacytometry parameters are affected by sickle cell disease (SCD) genotype and treatment.
Highlights
Sickle cell disease (SCD) is a group of inherited red blood cell (RBC) disorders marked by the presence of a mutation in the β-globin gene leading to the production of an abnormal hemoglobin (Hb) [1]
This finding may be attributed to a higher HbF level observed in these two populations; HU stimulates HbF production, and young SCA; HbSS disease (SS) children (5 years old) may still have a high amount of HbF, because the switch from HbF to adult hemoglobin is delayed in sickle cell disease (SCD) [26]
The slight difference in point of sickling (PoS) between non-transfused SS individuals and young SS children or SS patients with HU patients did not reach statistical significance, we observed that deoxygenation had less impact on Red blood cell (RBC) deformability in the groups of patients with a high HbF level compared to when non-transfused SS patients
Summary
Sickle cell disease (SCD) is a group of inherited red blood cell (RBC) disorders marked by the presence of a mutation in the β-globin gene leading to the production of an abnormal hemoglobin (Hb) [1]. The most common form of SCD is sickle cell anemia (SCA; HbSS disease (SS)). The mutation responsible for SCA occurs at the sixth position of the βglobin gene, leading to the replacement of a glutamic acid by valine, which causes the production of HbS. HbC is another Hb variant, caused by a mutation at the sixth position of the β-globin gene, but in this case leading to the replacement of the glutamic acid by a lysine. The second most common form of SCD is HbSC disease (SC), in which RBCs from patients contain both HbS and HbC
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