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D64.0 – Hereditary Sideroblastic Anemia
D64.0 is the ICD-10 code for hereditary sideroblastic anemia, a rare inherited blood disorder in which iron cannot be properly incorporated into red blood cells.
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D64.0 is the ICD-10 code for hereditary sideroblastic anemia, a rare inherited blood disorder in which iron cannot be properly incorporated into red blood cells.
What is D64.0 – Hereditary Sideroblastic Anemia?
D64.0 is the ICD-10 diagnosis code for hereditary sideroblastic anemia (HSA). This is a rare, genetically determined form of anemia in which the bone marrow absorbs iron but is unable to incorporate it correctly into the red blood pigment hemoglobin. As a result, iron accumulates in precursor red blood cells (erythroblasts), forming so-called ring sideroblasts – a hallmark of this condition.
Causes
Hereditary sideroblastic anemia is caused by genetic mutations affecting enzymes of heme biosynthesis or mitochondrial iron metabolism. The most common form is inherited in an X-linked recessive pattern and predominantly affects male patients. It is caused by mutations in the ALAS2 gene (aminolevulinate synthase 2), which encodes a key enzyme in heme synthesis. Rarer forms are inherited in an autosomal recessive or mitochondrial pattern.
- Mutation in the ALAS2 gene (most common cause, X-linked)
- Mutations in genes involved in mitochondrial iron transport (e.g., SLC25A38)
- Mitochondrially inherited forms (e.g., Pearson syndrome)
Symptoms
Symptoms arise from oxygen deficiency in the blood and from iron accumulation in various organs. Typical symptoms include:
- Fatigue and general weakness
- Pallor of the skin and mucous membranes
- Shortness of breath during physical exertion
- Rapid heartbeat (tachycardia)
- Enlargement of the liver and spleen (hepatosplenomegaly) due to iron deposits
- Symptoms of iron overload (hemochromatosis): damage to the liver, heart, and pancreas
Diagnosis
Diagnosis is established through a combination of blood tests, bone marrow analysis, and genetic testing:
- Blood count: Detection of microcytic, hypochromic anemia (small, pale red blood cells)
- Serum ferritin and transferrin saturation: Often markedly elevated (indicating iron overload)
- Bone marrow biopsy: Identification of ring sideroblasts (≥ 15% of erythroblasts with perinuclear iron granules) using Prussian blue staining
- Molecular genetic testing: Identification of the causative mutation (e.g., ALAS2)
Treatment
Treatment depends on the underlying mutation and disease severity:
Pyridoxine (Vitamin B6)
Many patients with ALAS2 mutations respond well to high-dose treatment with pyridoxine (Vitamin B6), as pyridoxal phosphate is a cofactor for ALAS2. Regular supplementation can significantly improve or normalize the anemia.
Blood Transfusions
In severe cases or when there is no response to pyridoxine, regular red blood cell transfusions may be required to maintain stable hemoglobin levels.
Iron Chelation Therapy
Since the condition leads to iron overload, chelation therapy (e.g., with deferoxamine or deferasirox) is often necessary to remove excess iron from the body.
Allogeneic Stem Cell Transplantation
In severe, treatment-resistant cases, allogeneic stem cell transplantation may offer a permanent cure. This option is particularly considered for younger patients with compatible donors.
References
- Bottomley SS, Fleming MD – Sideroblastic anemias: molecular basis, diagnosis and practical management. In: Hematology Am Soc Hematol Educ Program. 2014;2014:290–298. PubMed PMID: 25696878.
- Cazzola M et al. – Hereditary and acquired sideroblastic anemias. In: Haematologica. 2004;89(10):1267–1279. PubMed PMID: 15477213.
- World Health Organization (WHO) – ICD-10: International Statistical Classification of Diseases and Related Health Problems, 10th Revision. D64.0 Hereditary sideroblastic anaemia. www.who.int
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