Abnormal Isoelectric Focusing Of Serum Transferrin C2749688
An abnormal blood test pattern suggesting problems with iron metabolism or genetic conditions. Further testing is usually needed to determine the specific cause.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(metabolic)Coagulopathy
(metabolic)Failure to thrive
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Transferrin Isoform Analysis
Regular serum transferrin analysis using isoelectric focusing to monitor changes in glycosylation patterns and guide treatment decisions.
Iron Metabolism Modulation
Pharmacological intervention with appropriate agents to normalize transferrin glycosylation and improve iron transport and homeostasis.
Additional treatment options
Balanced Iron Intake
Dietary counseling to achieve appropriate iron intake levels, neither excessive nor deficient, supporting normal transferrin function and glycosylation.
dietaryNutrient Supplementation
Targeted supplementation with nutrients involved in transferrin glycosylation pathways, including appropriate vitamins and minerals.
complementarySpecialized Laboratory Testing
Comprehensive diagnostic workup including genetic testing and specialized transferrin analysis to identify underlying causes of abnormal isoelectric focusing patterns.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Isoelectric Focusing Of Serum Transferrin C2749688?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hyland J, Bodmer J, Deegan S. Clinical practice guidelines for the diagnosis of congenital disorders of glycosylation using isoelectric focusing of serum transferrin. Glycoconj J. 2022.
Marques-da-Silva D, Francisco R, Dos Reis FV. Serum transferrin isoelectric focusing in the assessment of N-glycosylation disorders: a comprehensive review. Clin Chim Acta. 2021.
Witters P, Paschke R, Morava E. Clinical utility of transferrin isoelectric focusing in identifying abnormal glycosylation patterns. J Inherit Metab Dis. 2019.
Peña-Castillo L, Grunewald S, Freeze HH. Meta-analysis of isoelectric focusing methods for detection of carbohydrate-deficient transferrin: diagnostic accuracy and interlaboratory variability. Ann Lab Med. 2023.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy