Table 1 Clinical and hematologic data of the patients at the time of the study.
From: ‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
II.4 | III.1 | Ref values | |
|---|---|---|---|
Gender | M | F | |
Age (yrs) | 40 | 1 | |
Transfusions | occasional until splenectomy | 2 (at birth and 3 month) | |
Splenectomy (age) | yes (12) | no | |
Thrombotic events | no | no | |
Hb (g/dL) | 10.5 | 9.9 | 13.4–17.5/10.5–14.5* |
MCV (fL) | 108 | 81.5 | 80–94/70–91* |
MCH (pg) | 35.8 | 29.1 | 25–35/24.5–31.5* |
MCHC (g/dL) | 33 | 35.7 | 31–37 |
Reticulocytes (×109/L) | 384 | 273 | 20–100 |
Erythroblasts (%) | 8.6 | n.a. | |
RBCs morphology | 13% stomatocytes | 8% stomatocytes | |
7% echinocytes | 3% elliptocytes | ||
6% schistocytes | 3% spherocytes | ||
5% elliptocytes | 2% schistocytes | ||
4% spherocytes | |||
Unconj. bilirubin (mg/dL) | 1.56 | 1.1 | <1 |
Serum ferritin (ng/mL) | 1108 | 97 | 30–400/15–150* |
Plasma Na+ (mE/L) | 139 | 137 | 135–145 |
Plasma K+ (mE/L) | 4.1 | 4 | 3.3–5.1 |
RBC K+ (μmoles/gDW) | 287.97 | 306.42 | 283.55 |
AGLT | 55 | >900 | >900 |
Pink test | 36 | 53 | 11–33 |
NaCl osmotic fragility | normal | increased | |
EMA binding test | normal | normal | |
Sp/B3 ratio | 0.84 | 0.97 | 0.95–1.17 |
Abnormal hemoglobins | absent | absent |
