Hereditary spherocytosis diagnostic study of choice
Overview
Diagnostic Criteria
- The diagnosis of hereditary spherocytosis can be based on the physical examination, complete red cell count, recticulocyte count, medical history and specific tests, preferentially, the EMA (eosin-5-maleimide binding) test and AGLT (acidified glycerol lysis time).[1][2]
- The diagnosis can be made at any age, including the neonatal period from day of birth.[3]
- The diagnostic guidelines of hereditary spherocytosis from the British Committee for Standards in hematology do not recommend any additional tests for patients with classical clinical features and laboratory data.
- The eosin-5-maleimide (EMA) binding test has high sensitivity (92–93%) and specificity (99%) for hereditary spherocytosis, although a positive test can also be obtained in patients affected by related conditions, such as congenital dyserythropoietic anemia type II (CDA II)
- Other tests, such as the osmotic fragility (OF) test, acidified glycerol lysis test (AGLT) and the pink test, exhibit lower sensitivity compared to the EMA test (68%, 61% and 91%, respectively).[4]
- Ektacytometry is a highly sensitive test of membrane deformability.
| Clinical Parameters | pallor, splenomegaly, inconstant jaundice |
|---|---|
| Biological paraneters & erythrocyte indices | dec Hb, inc MCHC, inc %hyperdense cells, inc reticulocytes |
| Blood smear | Spherocytes (may be absent) |
| Signs of hemolysis | inc free bilirubin, dec haptoglobin, inc reticulocytes |
| Erythrocyte coombs test | negative |
| Tests | Principle/feasibility | Sensitivity/Specificity |
|---|---|---|
| Osmotic resistance | hemolysis test/routime examination | 66%/low |
| Pink test | hemolysis test/simple test time-out test <3 hours | 96%/79-94% |
| AGLT | Hemolysis test time of test >3 hours | 81%/95% |
| Ektacytometry in osmolar gradient | study of deformity of RBCs single laboratory in France test execution time:24 hours | reference exam |
| Flow cytometry | labeling of RBCs with eosin 5 maleimide/not available on routine basis test run time >48 h | Being evaluated |
- Newly diagnosed patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised mean corpuscular haemoglobin concentration [MCHC], increase in reticulocytes) do not require any additional tests (grade 1 recommendation, grade A evidence).
- If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful. The recommended screening tests are the cryohaemolysis test and EMA binding (grade 1 recommendation, grade A evidence). (Confirmation).
- Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.[5]
References
- ↑ Guitton, C.; Garçon, L.; Cynober, T.; Gauthier, F.; Tchernia, G.; Delaunay, J.; Leblanc, T.; Thuret, I.; Bader-Meunier, B. (2008). "Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l'enfant". Archives de Pédiatrie. 15 (9): 1464–1473. doi:10.1016/j.arcped.2008.04.023. ISSN 0929-693X.
- ↑ Sayeeda Huq, Mark A. C. Pietroni, Hafizur Rahman & Mohammad Tariqul Alam (2010). "Hereditary spherocytosis". Journal of health, population, and nutrition. 28 (1): 107–109. PMID 20214092. Unknown parameter
|month=ignored (help) - ↑ Yuki Tateno, Ryoji Suzuki & Yukihiro Kitamura (2016). "Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report". Journal of medical case reports. 10 (1): 337. doi:10.1186/s13256-016-1144-8. PMID 27906107. Unknown parameter
|month=ignored (help) - ↑ Immacolata Andolfo, Roberta Russo, Antonella Gambale & Achille Iolascon (2016). "New insights on hereditary erythrocyte membrane defects". Haematologica. 101 (11): 1284–1294. doi:10.3324/haematol.2016.142463. PMID 27756835. Unknown parameter
|month=ignored (help) - ↑ "Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update - Bolton‐Maggs - 2012 - British Journal of Haematology - Wiley Online Library".