Sideroblastic anemia (patient information)

Sideroblastic anemia
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
Diagnosis
When to seek urgent medical care?
Treatment options
Where to find medical care for Sideroblastic anemia?
Prevention
What to expect (Outlook/Prognosis)?
Possible complications
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What are the symptoms of Sideroblastic anemia?

• Headache
• Weaknes
• Fatigue
• Breathing difficulty
• Rapid pulse
• Irritibility
• Chest pain

What causes Sideroblastic anemia?

Sideroblastic anemia can be caused by heriditory or acquired factors.

Heriditory causes of sideroblastic anemia include

• Mutations in ALAS2, ABCB7, SCL19A2, GLRX5 and PSU1 genes.
• Pearson syndrome
• DIDMOAD syndrome
• Mitochondrial SLC25A38
• Erythropoietic protoporphyria
• Acquired causes of sideroblastic anemia include:[2][3]
• Myelodysplastic syndrome
• Nutritional deficiencies (copper, vitamin B6)
• Lead poisoning
• Zinc overdose
• Alcohol
• Drugs (anti-tuberculous agents, antibiotics, progesterone, chelators, busulfan)
• Hypothermia

Who is at highest risk?

• Common risk factors in the development of sideroblastic anemia are
  • Male gender (X-linked SA)
  • Family history of hereditary SA
  • Chronic alcohol abuse
  • Lead toxicity
  • Drugs
    • • Isoniazid
      • Pyrazinamide
      • Chloramphenicol
      • Cycloserine
      • Azathioprine
  • Copper deficiency
  • Pyridoxine deficiency
  • Hypothermia affecting mitochondrial functions
  • High dose zinc suppleme

Diagnosis

The diagnostic workup for sideroblastic include

• Blood work (complete blood count, peripheral smear, iron studies)
• Bone marrow aspiration.