Hereditary spherocytosis diagnostic study of choice

Revision as of 07:20, 7 May 2020 by Skazmi (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

Hereditary spherocytosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary spherocytosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hereditary spherocytosis diagnostic study of choice On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hereditary spherocytosis diagnostic study of choice

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hereditary spherocytosis diagnostic study of choice

CDC on Hereditary spherocytosis diagnostic study of choice

Hereditary spherocytosis diagnostic study of choice in the news

Blogs on Hereditary spherocytosis diagnostic study of choice

Directions to Hospitals Treating Hereditary spherocytosis

Risk calculators and risk factors for Hereditary spherocytosis diagnostic study of choice

Overview

The diagnosis of hereditary spherocytosis can be based on physical examination, complete blood count (CBC), reticulocyte count, medical history and specific tests including eosin-5-maleimide binding (EMA) test and acidified glycerol lysis time (AGLT) test. The diagnosis can be made at any age. EMA binding test has high sensitivity and specificity for the hereditary spherocytosis. Other tests include; osmotic fragility (OF) test, pink test and ektacytometry. Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases.

Diagnostic Criteria

Simple Diagnostic Criteria to evoke the Diagnosis of Hereditary Spherocytosis
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
Specific Biological Examinations for the Diagnosis of Hereditary Spherocytosis
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

References