Related Experiment Video
Updated: May 2, 2026
Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
Acute hemolytic anemia as an initial presentation of Wilson disease in children
Mona S El Raziky1, Amal Ali, Amira El Shahawy
1*Pediatric Department, Cairo University †Pediatric Department, National Hepatology and Tropical Medicine Institute, Cairo, Egypt.
Insights
Wilson disease (WD) is an inherited copper metabolism disorder. Screening children with hemolytic anemia identified 40% as likely or definite WD cases, indicating it’s not uncommon.
Area of Science:
- Pediatric Hematology
- Metabolic Disorders
- Genetics
Background:
- Wilson disease (WD) is an inherited disorder affecting copper metabolism.
- Hemolytic anemia is a presenting symptom in up to 17% of WD patients.
Purpose of the Study:
- To investigate the prevalence of Wilson disease (WD) in children presenting with hemolytic anemia.
- To screen pediatric patients with unexplained hemolytic anemia for potential WD.
Main Methods:
- Twenty children with Coombs-negative hemolytic anemia were evaluated.
- Diagnostic methods included serum ceruloplasmin, 24-hour urinary copper (pre- and post-D-penicillamine challenge), and slit-lamp examination for Kayser-Fleischer rings.
Main Results:
- Kayser-Fleischer rings were observed in 5% of cases.
- Urinary copper levels were elevated in 40% after D-penicillamine challenge.
- Eight patients (40%) were classified as likely or definite WD, showing lower hemoglobin and related parameters, and higher post-challenge urinary copper.
Conclusions:
- Wilson disease should be considered in the differential diagnosis of pediatric hemolytic anemia.
- Screening for WD is crucial in children with unexplained hemolytic anemia, even without low ceruloplasmin levels.
Background:
Wilson disease (WD) is an inherited disorder of copper metabolism. Hemolytic anemia in WD occurs in up to 17% of patients at some point during their illness.
Aim:
To screen for WD among children presenting with hemolytic anemia.
Methodology:
Twenty cases (mean age, 8.8 ± 3.9 y) with Coombs-negative hemolytic anemia, attending the hematology clinic of children hospital, Cairo University, were screened for WD by serum ceruloplasmin level, 24 hours urinary copper before and after D-penicillamine challenge test, and slit-lamp examination for detecting Kayser-Fleischer rings.
Results:
No case had low ceruloplasmin, whereas bilateral Kayser-Fleischer rings was detected in 5% of our cases. Urinary copper was elevated in 5% before and in 40% after D-penicillamine challenge test. According to the scoring system used, 1 case had definite WD and 7 cases were likely to have WD. These 8 (40%) cases were referred to as group B. Group B had a significantly lower hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin, and reticulocytes (P=0.04, 0.001, 0.04, and 0.04, respectively) and a significantly higher urinary copper after penicillamine (P=0.000) when compared with group A (unlikely WD).
Conclusion:
WD is not uncommon in children with hemolytic anemia after exclusion of other common causes.
Related Concept Videos
01:27Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
01:01Hypersensitivity Reactions: Cytolytic Reactions
01:21Huntington Disease l: Introduction
01:25Immunodeficiency Diseases
There are three main causes of immunodeficiency...
01:24Chronic Kidney Disease II: Clinical Manifestations
01:19Rh Blood Group