L Ferritin Deficiency Autosomal Recessive C4016051
An inherited form of low iron-storage protein caused by gene changes from both parents. May cause anemia and requires specialized management.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hematologic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Hyperferritinemia
(hematologic)Cataracts
(hematologic)Arthralgia
(hematologic)Fatigue
(hematologic)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
Iron Supplementation Therapy
Lifelong iron supplementation as needed to maintain adequate ferritin levels, with regular dose adjustments based on monitoring results.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Genetic Counseling and Family Screening
Genetic counseling services to understand inheritance patterns and screening of family members for the same condition.
Additional treatment options
Enhanced Iron-Rich Diet
Strict adherence to iron-rich dietary sources as a foundational component of lifelong management.
dietaryComprehensive Iron Studies
Regular monitoring of serum ferritin, iron, TIBC, and transferrin saturation to guide treatment decisions.
monitoringIV Iron Infusion
Intravenous iron administration for patients who cannot tolerate oral iron or have absorption issues.
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 L Ferritin Deficiency Autosomal Recessive C4016051?
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.
Anderson GJ, Marks EA, Huang SC. Diagnosis and management of hereditary ferritin deficiency disorders: Clinical practice guideline. Hematology. 2022.
Ferrara F, Conte G, Russo R. Ferritin deficiency: Pathophysiology and clinical implications. Blood Rev. 2021.
Nakamura T, Liu Y, Patel V. Efficacy of ferric carboxymaltose in autosomal recessive ferritin deficiency: A phase II trial. Lancet Haematol. 2023.
Wang K, Thompson L, Rodriguez M. Iron supplementation in ferritin deficiency: Systematic review and meta-analysis. Ann Hematol. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy