Table of ContentsView AllTable of ContentsTypesSymptomsCausesDiagnosisTreatment
Table of ContentsView All
View All
Table of Contents
Types
Symptoms
Causes
Diagnosis
Treatment
Sideroblastic anemia occurs when iron is not properly incorporated into the red blood cells.It can develop due to hereditary conditions or due to certain medical problems. “Anemia” is a general term for conditions in which there are lower numbers of healthy red blood cells than normal or they don’t carry oxygen efficiently.
This condition can cause symptoms commonly associated with most types of anemia, such as fatigue and light-headedness. The diagnosis of sideroblastic anemia involves blood tests that evaluate characteristics of red blood cells, and other diagnostic tests can help identify the cause.
Treatment can help improve symptoms and may help alleviate the underlying cause. You will likely need follow-up testing to monitor the effects of your treatment and to determine whether you need additional tests.
Types of Sideroblastic Anemia
Sideroblastic anemia can be inherited or acquired. When it’s acquired, it develops due to a nonhereditary cause. Each of these types includes many subtypes, as follows:
Sideroblastic Anemia Symptoms
Sideroblastic anemia can cause gradually progressive symptoms. As with most types of anemia, the effects are generally vague, and they may affect your day-to-day life.
Common symptoms include:
These symptoms can be bothersome, but since they’re often subtle, many people may not recognize that they are signs of a medical problem.
When to See a DoctorMake sure to get medical attention if you have lingering symptoms of low energy.
When to See a Doctor
Make sure to get medical attention if you have lingering symptoms of low energy.
In addition to the symptoms of anemia, you can also have other symptoms associated with the condition causing it.
Causes of Sideroblastic Anemia
There are many different causes of sideroblastic anemia. These conditions interfere with the formation of hemoglobin, an iron-containing protein that binds to oxygen in the red blood cells. Hemoglobin picks up oxygen in the lungs when you inhale, and it releases it to all of your body’s organs so you can get energy.
When hemoglobin isn’t properly formed, iron builds up in red blood cells, but it isn’t useful. This leads to low oxygenation of tissues throughout your body, which causes many of the symptoms of sideroblastic anemia.
Causes of acquired sideroblastic anemia include:
At least 25 different hereditary gene mutations have been identified in relation to hereditary sideroblastic anemia. Many of these are X-linked mutations (present on the X chromosome) or autosomal recessive (present on chromosomes other than X and Y, and the mutation must be inherited from both genetic parents to produce the condition).
These varied conditions can affect the transport of iron into the hemoglobin protein or may affect the production of hemoglobin. Iron accumulates in the red blood cells, andiron overloadmay develop in addition to the diminished red blood cell function.
How Is Sideroblastic Anemia Diagnosed?
These physical signs are not always present with sideroblastic anemia, and they are considered nonspecific—which means that many different medical issues can cause them.
This type of anemia is diagnosed with blood tests. Acomplete blood count (CBC)is a common blood test that is usually part of a routine checkup. It is also often ordered when a person has symptoms of illness, such as fatigue.A blood smear, which is a microscopic examination of a blood sample, can diagnose sideroblastic anemia.
If you have signs of sideroblastic anemia in your blood tests, you may have additional diagnostic testing to identify the cause.
Possible CBC changes:
Blood smear: Iron accumulation in the red blood cells makes a ringed appearance. This can be detected when the blood sample is observed microscopically using Prussian blue staining, a dye used to detect iron.
Other tests can include:
If you have a medical problem causing sideroblastic anemia, you may also have other effects that are related to the cause. For example, lead toxicity can cause cognitive deficits (difficulties in thinking and processing information), and your doctors will also treat the other effects of your condition.
Treatment of Sideroblastic Anemia
The treatment of sideroblastic anemia includes approaches to improving the red blood cell and hemoglobin concentration in the blood, treating the underlying problem, and management of treatment side effects.
In general, alcohol and zinc may worsen sideroblastic anemia. Avoiding these substances is recommended for anyone who has the condition.
Some treatments that are used include:
Summary
Sideroblastic anemia includes all types of anemia that cause ringed sideroblasts in the blood cells. These sideroblasts develop when the iron in the body can’t be incorporated into hemoglobin. The condition can cause symptoms ranging from mild to severe, such as fatigue, shortness of breath, and enlarged spleen.
Many people who have sideroblastic anemia require ongoing treatment and close observation with repeat blood tests.
A Word From Verywell
Sideroblastic anemia is an uncommon type of anemia with characteristic diagnostic features. There are many causes of this type of anemia, and if you are diagnosed with sideroblastic anemia, this diagnosis is only the first step in your medical evaluation.
Your medical team will also need to identify the underlying cause so you can get started on the right treatment. You will need to have blood tests to monitor the effects of your treatment, and it’s also important that you stay attuned to your symptoms so you can get medical attention if your anemia recurs or worsens.
5 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ducamp S, Fleming MD.The molecular genetics of sideroblastic anemia.Blood. 2019;133(1):59-69. doi:10.1182/blood-2018-08-815951Fujiwara T, Harigae H.Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.Free Radic Biol Med.2019;133:179-185. doi:10.1016/j.freeradbiomed.2018.08.008Department of Health and Human Services.Sideroblastic anemia.Mangaonkar AA, Patnaik MM.Treatment of acquired sideroblastic anemias.Hematol Oncol Clin North Am.2020 Apr;34(2):401-420. doi:10.1016/j.hoc.2019.11.002Morimoto Y, Chonabayashi K, Kawabata H, et al.Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.Blood Adv.2021 Nov 15:bloodadvances.2021005664. doi:10.1182/bloodadvances.2021005664
5 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ducamp S, Fleming MD.The molecular genetics of sideroblastic anemia.Blood. 2019;133(1):59-69. doi:10.1182/blood-2018-08-815951Fujiwara T, Harigae H.Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.Free Radic Biol Med.2019;133:179-185. doi:10.1016/j.freeradbiomed.2018.08.008Department of Health and Human Services.Sideroblastic anemia.Mangaonkar AA, Patnaik MM.Treatment of acquired sideroblastic anemias.Hematol Oncol Clin North Am.2020 Apr;34(2):401-420. doi:10.1016/j.hoc.2019.11.002Morimoto Y, Chonabayashi K, Kawabata H, et al.Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.Blood Adv.2021 Nov 15:bloodadvances.2021005664. doi:10.1182/bloodadvances.2021005664
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Ducamp S, Fleming MD.The molecular genetics of sideroblastic anemia.Blood. 2019;133(1):59-69. doi:10.1182/blood-2018-08-815951Fujiwara T, Harigae H.Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.Free Radic Biol Med.2019;133:179-185. doi:10.1016/j.freeradbiomed.2018.08.008Department of Health and Human Services.Sideroblastic anemia.Mangaonkar AA, Patnaik MM.Treatment of acquired sideroblastic anemias.Hematol Oncol Clin North Am.2020 Apr;34(2):401-420. doi:10.1016/j.hoc.2019.11.002Morimoto Y, Chonabayashi K, Kawabata H, et al.Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.Blood Adv.2021 Nov 15:bloodadvances.2021005664. doi:10.1182/bloodadvances.2021005664
Ducamp S, Fleming MD.The molecular genetics of sideroblastic anemia.Blood. 2019;133(1):59-69. doi:10.1182/blood-2018-08-815951
Fujiwara T, Harigae H.Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.Free Radic Biol Med.2019;133:179-185. doi:10.1016/j.freeradbiomed.2018.08.008
Department of Health and Human Services.Sideroblastic anemia.
Mangaonkar AA, Patnaik MM.Treatment of acquired sideroblastic anemias.Hematol Oncol Clin North Am.2020 Apr;34(2):401-420. doi:10.1016/j.hoc.2019.11.002
Morimoto Y, Chonabayashi K, Kawabata H, et al.Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.Blood Adv.2021 Nov 15:bloodadvances.2021005664. doi:10.1182/bloodadvances.2021005664
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