Download Supplemental Data: DOI: 10.1515/cclm-2016

Supplemental Data: DOI: 10.1515/cclm-2016-0290
Supplemental Data, Figure 1. Osmoscan parameters EI min, O min, EI hyper, O hyper, EI
max, O (EI max), and AUC area under the curve) expressed as percent change compared to
the mean of control samples. Shown are data for HS group (n=40) and for the other
pathologies group (n=37); * statistical difference (p< 0.05).
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Supplemental Data, Table 1. Investigations steps for HS diagnosis in general and in reference
laboratory
Clinical features


Family history
Mode of inheritance
Inherited, chronic disease
Individual history: neonatal jaundice,
episodes of anemia and/or acholuric
jaundice, gallstones, splenomegaly
GENERAL LABORATORY
First line laboratory tests
 Confirm hemolysis (anemia not always
present)
 Confirm erythropoietic answer
Unconjugated bilirubin, haptoglobin,
LDH

Exclude autoimmune hemolytic anemia
DAT

Exclude enzymopathy

Search for HS characteristics
G6PD, PK and GPI activitiesa
Blood smear: spherocytes
RBC indices: MCHC, MSCV, MRV
etc.
Second line laboratory tests
Specific tests

Search for osmotic fragility

Search for RBC membrane protein EMA binding test
deficiency
Cryohaemolysis test
Confirmatory tests if:
REFERENCE LABORATORY
Reticulocyte count, IRF





Ektacytometry
Normal cryohaemolysis or EMA
binding test but HS suspected
Absence of family history
Doubtful
diagnosis
before
splenomectomy
Heterogeneous clinical expression in
relatives
Severe forms of HS
Diagnostic tests

SDS-PAGE and/or DNA analysis
Complex and severe clinical situations
requesting genetic counselling
a
G6PD, glucose-6-phosphate dehydrogenase; PK, pyruvate kinase; GPI, glucose posphate
isomerase.
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