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ICD Hub / Diseases of the blood or blood-forming organs (D50–D89) / 3A01.0 - Hereditary vitamin B12 deficiency anaemia
ICD-11

ICD-11 Codes
for 3A01.0 - Hereditary vitamin B12 deficiency anaemia
Teodor Jurukovski January 1, 1970
Fact checked by: Teodor Jurukovski
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Understanding Hereditary Vitamin B12 Deficiency Anaemia (ICD-11 Code 3A01.0)

Hereditary vitamin B12 deficiency anaemia, identified by ICD-11 code 3A01.0, is a genetic disorder that affects the body's ability to absorb or utilise vitamin B12. This inherited condition can lead to significant health issues, particularly neurological complications, if not properly managed.

Genetic Basis of Hereditary Vitamin B12 Deficiency Anaemia

The causes of this condition are rooted in inherited genetic defects. These can manifest as problems with the synthesis or function of intrinsic factor, a protein crucial for vitamin B12 absorption, or issues with the proteins responsible for transporting vitamin B12 within the body, such as transcobalamin II. Conditions like Imerslund-Gräsbeck syndrome are examples of hereditary vitamin B12 malabsorption disorders.

Recognising the Symptoms

Individuals with hereditary vitamin B12 deficiency anaemia may experience symptoms associated with anaemia, including extreme tiredness and shortness of breath. Due to the prolonged lack of vitamin B12, neurological symptoms are also common. These can include numbness and tingling sensations, confusion, memory loss, and difficulties with balance or concentration.

How is Hereditary Vitamin B12 Deficiency Anaemia Diagnosed?

Diagnosis typically involves a comprehensive evaluation. Blood tests are essential to measure vitamin B12 levels and assess red blood cell status through a complete blood count (CBC). Further investigations may be conducted to identify specific genetic defects or absorption issues contributing to the deficiency.

Treatment and Long-Term Management

Management of hereditary vitamin B12 deficiency anaemia focuses on correcting the vitamin B12 deficit. Treatment usually involves lifelong vitamin B12 supplementation, often administered through intramuscular injections or high-dose oral supplements, to maintain adequate levels and alleviate symptoms. This condition may be referred to by several other names, reflecting its underlying causes. Common synonyms and related terms include congenital intrinsic factor deficiency, defects of cobalamin metabolism, hereditary megaloblastic anaemia due to transcobalamin deficiency, and transcobalamin II deficiency.

Coding and Reporting for 3A01.0

The ICD-11 code 3A01.0 is the official classification for Hereditary vitamin B12 deficiency anaemia. This code is used for accurate medical coding, billing, and documentation purposes within healthcare systems.

Frequently asked questions

What is the ICD-11 classification for Hereditary vitamin B12 deficiency anaemia?
Hereditary vitamin B12 deficiency anaemia is classified under ICD-11 code 3A01.0, which is a specific category within Megaloblastic anaemia due to vitamin B12 deficiency (3A01).
How does ICD-11 differentiate Hereditary vitamin B12 deficiency anaemia (3A01.0) from other vitamin B12 deficiency anaemias?
ICD-11 code 3A01.0 is used for hereditary forms, such as those linked to congenital intrinsic factor deficiency or transcobalamin deficiency, distinguishing it from anaemias due to low intake or unspecified causes.
When is the ICD-11 code 3A01.0 considered specified versus unspecified?
Code 3A01.0 is a specified category for Hereditary vitamin B12 deficiency anaemia. Unspecified categories for this condition would be used if the hereditary nature or specific underlying cause (like intrinsic factor or transcobalamin deficiency) is not documented.
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