1
|
(HPO:0000952)
|
Jaundice |
rare [HPO]
|
|
|
|
105 / 7739
|
2
|
(HPO:0000980)
|
Pallor |
rare [HPO]
|
|
|
|
52 / 7739
|
3
|
(HPO:0001081)
|
Cholelithiasis |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
4
|
(HPO:0001744)
|
Splenomegaly |
rare [HPO:skoehler]
|
|
|
|
337 / 7739
|
5
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
6
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
7
|
(HPO:0003281)
|
Increased serum ferritin |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|
8
|
(HPO:0003641)
|
Hemoglobinuria |
rare [HPO]
|
|
|
|
2 / 7739
|
9
|
(HPO:0005535)
|
Exercise-induced hemolysis |
|
|
|
|
1 / 7739
|
10
|
(HPO:0008269)
|
Increased red cell hemolysis by shear stress |
|
|
|
|
1 / 7739
|
11
|
(HPO:0012115)
|
Hepatitis |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
12
|
(OMIM)
|
Scleral icterus (in some patients) |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Pericardial effusion, perinatal (rare) |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
Thrombosis, susceptibility to (post-splenectomy patients) |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Pleural effusion, perinatal (rare) |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Ascites, perinatal (in some patients) |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Hepatosiderosis |
|
|
|
|
2 / 7739
|
18
|
(HPO:0001046)
|
Intermittent jaundice |
|
|
|
|
3 / 7739
|
19
|
(OMIM)
|
Edema, generalized perinatal (in some patients) |
|
|
|
|
1 / 7739
|
20
|
(HPO:0004870)
|
Chronic hemolytic anemia |
|
|
|
|
6 / 7739
|
21
|
(MedDRA:10025382)
|
Macrocytosis |
|
|
|
|
3 / 7739
|
22
|
(OMIM)
|
Increased mean corpuscular hemoglobin concentration |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Stomatocytes (may be few in number) |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Eccentrocytes (in some patients) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Ektacytometric osmotic gradient curve shifted to the left |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Increased red blood cell membrane permeability to univalent cations |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients) |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Increased serum bilirubin |
|
|
|
|
4 / 7739
|
29
|
(OMIM)
|
Decreased serum haptoglobin |
|
|
|
|
3 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|