Sideroblastic Anemia is a type of anemia where instead of producing healthy red blood cells or erythrocytes into circulation, the bone marrow produces one of its precursors, a sideroblast. In sideroblastic anemia, the body has iron stored in the mitochondria of sideroblasts which for a ring around its nucleus, but cannot form hemoglobin with it, and hence cannot transport oxygen like normal erythrocytes.
Sideroblastic anemia can be caused due to a number of factors including genetic. The most common non genetic cause is excessive alcohol consumption. It may also be caused by lead poisoning, copper deficiency, or pyridoxine deficiency. Sideroblastic anemia can also be caused by three types of conditions broadly called Myelodysplastic Syndrome. These include RARS (Refractory Anemia with Ringed Sideroblasts), RARS-T (Refractory Anemia with Ringed Sideroblasts and Thrombocytosis), and RCMD-RS (refractory cytopenia with multilineage dysplasia and ringed sideroblasts). Thes forms of Sideroblastic anemia have a risk of developing into leukemia. Genetic causes for sideroblastic anemia include X-Linked Sideroblastic Anemia, Autosomal Recessive Sideroblastic Anemia, and in combination with other genetic syndromes like myopathy, ataxia, etc.
Treatments for sideroblastic anemia include removal of toxins causing the condition like alcohol, lead, or other drugs. Another method of treatment is a Vitamin B6 or Pyridoxine therapy as a number of cases show very effective response with this therapy. Thiamine and Folic Acid treatments have also been found to be effective in some cases. Blood transfusion therapy is carried out in patients who do not respond to other modes of treatment. In some very rare cases transplantation is advised with varying rates of success.
Treatment for sideroblastic anemia depends on the exact cause of the anemia. Thus, if toxicity is the cause, removal of toxins leads to recovery. Toxin removal needs to be done on a case to case basis depending on the patient, as certain medications can cause toxicity.
In case a vitamin deficiency is the cause of anemia, treatment is done by Pyridoxine or Vitamin B6 therapy. In fact, Pyridoxine treatment causes recovery in almost all non genetic cases of sideroblastic anemia and is usually the primary therapy practiced. Pyridoxine treatment is continued for life if response is visible, and pyridoxine dosages should be based on the tolerance of the patient so as to be effective in replenishing hemoglobin without causing toxicity. In some patients non responsive to pyridoxine, an active form of it called Pyridoxal 5′ phosphate or PLP is used. Thiamine and Folic acid have been used in certain cases with success.
Blood transfusion therapy is used in patients who do not respond to any form of Pyridoxine treatment. This form of therapy comes with an associated risk of causing an iron overload or of worsening any iron overload inherently developing in sideroblastic anemic patients. A subcutaneous drug is used to combat this overload, and recently an oral chelating agent is also available.
Other forms of therapy have been shown to be effective in isolated cases only. In extremely rare cases when everything else fails a bone marrow transplant and in some cases liver transplant is advised.
Treatment for sideroblastic anemia is done in patients who show the typical symptoms of anemia including pale skin, increased paleness of eyes, fatigue, weakness, dizziness, enlargement of spleen and liver, etc. but other causes of anemia have been ruled out. Medical tests are carried out along with the symptoms, and any clinical history indicating exposure to toxins, genetic or geographical location based iron deficiency, dietary deficiency of vitamins, etc. are also considered while the condition is being diagnosed.
Anemia can be caused by a nutritional deficiency of iron. Hence people who do not exhibit symptoms of a physical condition causing anemia are advised an iron replenishment therapy and are excluded from this treatment if their condition improves. If anemic symptoms persist and other tests do not indicate sideroblastic anemia, such patients are all excluded from the treatment.
Side effects of all treatments depend on the treatment approach undertaken. Removal of toxic agents sometimes may remove medicated drugs causing the symptoms. If pyridoxine doses go over the tolerance limit for the patient, it may cause toxicity. Blood transfusion has a slight risk of causing or aggravating an iron overload in the blood. Transplantation treatment is usually performed in very rare cases and even then has a small chance of success, the side effect of non self recognition of donor organs.
Successful treatment needs to be followed up with regular checkups, a healthy diet free of zinc, and complete abstinence from alcohol. Smoking can also aggravate the condition, and hence smoking is to be avoided. A healthy diet rich in Vitamin B6 and iron is to be followed. Other guidelines are prescribed by the medical practitioner specific to the condition of the patient undergoing treatment.
Pyridoxine treatment is continued for life if there is response to it. Other forms of treatment like toxin removal, blood transfusion, or other medical treatment forms are applied as supplements to the Pyridoxine therapy. While complete recovery does not occur in genetic cases of sideroblastic anemia, the symptoms can be managed. In other cases long term treatment leads to recovery.
Cost of the treatment depends on the treatment method followed. Detoxification treatments range from Rs. 1000-5000. Pyridoxine in combination with other vitamins is available as oral capsules costing between Rs. 100-500. Blood transfusion is performed taking blood from blood bags which are supplied from government regulated sources at Rs. 40 per unit. Bone marrow transfusion costs between Rs. 9 lakhs and Rs. 40 lakhs.
Results of the treatments are not permanent and regular checkups need to be conducted. Pyridoxine treatment needs to be continued for life if it is successful.