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D64.1 – Secondary Sideroblastic Anaemia
D64.1 is the ICD-10 code for secondary sideroblastic anaemia, a form of anaemia in which the bone marrow cannot properly incorporate iron into red blood cells.
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D64.1 is the ICD-10 code for secondary sideroblastic anaemia, a form of anaemia in which the bone marrow cannot properly incorporate iron into red blood cells.
What is D64.1 – Secondary Sideroblastic Anaemia?
D64.1 is the ICD-10 diagnosis code for secondary sideroblastic anaemia. This is a type of anaemia in which precursor cells of red blood cells in the bone marrow absorb iron but are unable to incorporate it correctly into haemoglobin, the red blood pigment. Instead, iron accumulates in ring-shaped deposits around the cell nucleus, forming what are known as ring sideroblasts. Unlike the primary (inherited) form, D64.1 arises from an identifiable external cause.
Causes
Secondary sideroblastic anaemia is triggered by various acquired factors that disrupt iron metabolism in the bone marrow:
- Medications and toxins: Particularly isoniazid (used to treat tuberculosis), chloramphenicol, cycloserine, linezolid, and excessive alcohol consumption
- Lead poisoning: Lead inhibits key enzymes in the haem synthesis pathway
- Copper deficiency: Copper is a cofactor for critical enzymes involved in iron metabolism
- Zinc toxicity: Excessive zinc intake can displace copper, indirectly causing sideroblastic anaemia
- Chronic diseases: Inflammatory, malignant, or rheumatic conditions can impair haem synthesis
- Vitamin B6 deficiency (pyridoxine): Pyridoxal phosphate is an essential cofactor for delta-aminolevulinic acid synthase, the first enzyme in haem synthesis
Symptoms
The symptoms are consistent with general anaemia, though severity may vary:
- Fatigue and exhaustion
- Pale skin and mucous membranes
- Shortness of breath during physical activity
- Rapid heartbeat (tachycardia) or palpitations
- Dizziness and headaches
- In severe cases: organ damage due to iron overload (haemosiderosis) affecting the liver, heart, or pancreas
Diagnosis
Diagnosing secondary sideroblastic anaemia requires a careful combination of medical history, laboratory testing, and bone marrow examination:
- Blood count: Hypochromic or normochromic red blood cells, low haemoglobin, elevated serum iron and ferritin
- Transferrin saturation: Often significantly elevated
- Bone marrow biopsy: Detection of ring sideroblasts (more than 15% of erythroblasts) using Prussian blue staining – this is the diagnostic gold standard
- Identifying the cause: Medication review, blood lead and copper levels, vitamin B6 measurement, alcohol history
Treatment
Treatment is primarily directed at the underlying cause:
- Discontinuing the causative medication or avoiding the harmful substance (e.g., alcohol, lead)
- Vitamin B6 supplementation (pyridoxine): Particularly effective in drug-induced or nutritionally related forms; typical doses range from 50–200 mg per day under medical supervision
- Copper supplementation in confirmed copper deficiency
- Phlebotomy or chelation therapy: To reduce iron stores in cases of manifest iron overload
- Blood transfusions: As a supportive measure in severe symptomatic anaemia
- Treatment of the underlying disease in chronic or malignant cases
Prognosis
The prognosis of secondary sideroblastic anaemia is generally favourable when the underlying cause is identified and treated promptly. Once the triggering factor is removed, the anaemia often resolves completely. However, untreated iron overload can lead to permanent organ damage.
References
- World Health Organization (WHO): ICD-10 Classification of Mental and Behavioural Disorders – D64.1 Secondary sideroblastic anaemia. Geneva, 2019.
- Bottomley SS, Fleming MD. Sideroblastic anaemia: diagnosis and management. Hematology/Oncology Clinics of North America, 2014;28(4):653–670. PMID: 25064707.
- Muncie HL Jr, Campbell J. Alpha and beta thalassemia and sideroblastic anaemias. American Family Physician, 2009;80(4):339–344.
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