Page 283 - Haematologica Vol. 107 - September 2022

CASE REPORT
Table 1. Clinical features of the proband pre- and post-splenectomy.
Pre-splenectomy
Post-splenectomy
Reference ranges*
Before iron chelation treatment
After iron chelation treatment
Blood count
Age, years
24
25
54
-
RBC x106/mL
3.5
1.5
1.9
3.9-5.6
Hb, g/dL
10.5
6.5
8.8
11.0-16.0
Hct, %
29.0
18.0
25.4
33.0-45.0
MCV, fL
129.0
125.7
128.0
70.0-91.0
MCH, pg
36.0
43.0
44.4
23.0-33.0
Plt x103/mL
268.0
1,126.0
481.6
150.0-450.0
Retics count x103/μL
250.0
17.9
11.85
-
Retics, %
7.1
259.6
224.0
0.5-2.0
Hemolytic indices and iron balance
Total bilirubin, mg/dL
1.6
1.8
1.6
0.2-1.2
Indirect bilirubin, mg/dL
1.3
1.5
1.3
-
LDH, U/L
358.0
380.0
369.0
125.0 – 243.0
Haptoglobin, g/L
0.03
0.02
0.01
0.3-2.0
Iron, g/dL
92.0
130.0
178.0
60.0-180.0
Ferritin, ng/mL
210.00
1,020.0
355.0
22.0-275.0
Transferrin, saturation %
28.0
65.0
-
<45
Hepcidin, nM
-
0.6
-
4.1-8.5
*Reference ranges from AOU Federico II, University of Naples, Italy. RBC: red blood cells; Hb: hemoglobin; Hct: hematocrit; MCV: mean cor- puscular volume; MCH: mean corpuscular hemoglobin; Plt: platelets; Retics: reticulocytes; LDH: lactate dehydorgenase.
Table 2. Intracellular erythrocyte [Na+] and [K+]. Isotopic fluxes at 37°C.
Storage time/temperature hours/°C
Intracellular [Na+] (mmol/L cells)
Intracellular [K+] (mmol/L cells)
Patient II.2
on arrival
31.98
71.25
Control
on arrival
21.57
86.09
Patient II.2
O.N./ 4°C
35.00
63.58
Control
O.N./ 4°C
24.29
81.01
Reference range
on arrival
5-11
85-105
K+ influx at 5 mM external [K+] (86Rb+ tracer)
NaK pump mmol/(L cells.h)
NaK2Cl cotransport mmol/(L cells.h)
Leak mmol/(L cells.h)
ouabain-sensitive
bumetanide-sensitive
ouabain- + bumetanide- insensitive
Patient II.2
9.695
0.353
0.293
Control
2.163
0.099
0.049
Reference range
1-2
0-1
0.05-0.10
O.N.: over night.
CM1713992] of the PIEZO1 gene previously described and functionally validated as pathogenic of DHS with hemo- siderosis.13 We did not perform an inheritance analysis of
all the identified variants, as the proband's parents had already died (for causes not related to anemia).
We further analyzed ABCB6 protein expression in the pa-
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