Approach Considerations

The workup for sideroblastic anemia may include the following:

Complete blood count (CBC)
Peripheral smear,
Iron studies (eg, ferritin and total iron-binding capacity [TIBC])
Bone marrow aspiration and biopsy
Other studies as appropriate
Various forms of genetic testing and genotyping

Complete Blood Cell Count and Peripheral Smear

In patients with sideroblastic anemia, the CBC usually reveals moderate anemia, although severe anemia has been reported.^[71]The mean corpuscular volume (MCV) is usually low, with a microcytic picture; however, normocytic, macrocytic,^[72]and classic dimorphic (normocytic + microcytic)^[73]smears are not uncommon. (See the image below.)

Normochromic vs hypochromic red blood cell (RBC).

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Siderocytes with Pappenheimer bodies (hypochromic erythrocytes with basophilic iron deposits) are sideroblasts that have matured enough to make it to peripheral blood. (See the image below.)

Pappenheimer bodies seen on giemsa stain.

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Dimorphic anemia is not specific for sideroblastic anemia and is also seen in combined vitamin B12 deficiency with iron deficiency and after blood transfusions.^[74]Other cell lines may be undisturbed in pure sideroblastic anemia, but leukopenia, thrombocytopenia, or even thrombocytosis may be observed in sideroblastic anemia associated with myelodysplastic syndrome (MDS). (See the image below.)

The peripheral smear may exhibit basophilic stippling in cases of lead poisoning.^[75]

Basophilic stippling in lead poisoning.

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Iron and Other Laboratory Studies

Iron studies may show increased an iron level with decreased TIBC . A very low ferritin level strongly favors iron deficiency as the primary cause of anemia. In fact, iron deficiency may mask underlying sideroblastic anemia as hypochromic anemia, with the appearance of sideroblasts in bone marrow once the iron stores are replenished.^[76]Periodic iron studies are essential even for those patients who are not transfusion dependent.

Serum lead, alcohol, γ-glutamyltransferase (GGT), copper, and zinc levels can be measured. Surrogates for vitamin B6 that can be measured in plasma include pyridoxal 5′ phosphate (PLP) and 4-pyridoxic acid (4-PA).^[77]4-PA can also be measured in urine.

Bone Marrow Aspiration and Biopsy

Prussian blue staining of bone marrow aspirate smears reveals ferritin granules within the erythroblasts and hemosiderin in macrophages. In normal bone marrow, 20-50% of the erythroblasts are sideroblasts – that is, erythroblasts with a few (1-5) iron-containing granules randomly distributed around the cytoplasm. Sideroblasts are visible in bone marrow aspirate smears but not in bone marrow biopsies, because erythroblastic iron is lost in bone marrow biopsy processing. Ring sideroblasts are aberrant sideroblasts in which Prussian blue staining reveals iron-loaded mitochondria as green-blue granules encircling the nucleus.^[78]

Usually, when a physician is faced with the diagnosis of sideroblastic anemia, bone marrow aspiration and biopsy has already been done. Attention should be paid to other cell lines (ie, megakaryocytes, myelocytes) because MDS is a part of the differential diagnosis (see DDx). If iron deficiency anemia is of unclear etiology and fails to respond to iron replacement, bone marrow aspiration and biopsy should be included in the workup. Patients with sideroblastic anemia who initially present with hypochromic anemia may end up receiving iron supplements if a bone-marrow biopsy is not performed and thus develop iron overload.

It is important to obtain cytogenetic studies on the bone marrow aspirate samples, as quite often this may be the only way confirm a myelodysplastic syndrome.

Histologic Findings

In the 2016 World Health Organization (WHO) classification system, the criteria for myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) are as follows^[5]:

Thrombocytosis (≥450 × 10 ⁹/L) associated with refractory anemia
Dyserythropoiesis in the bone marrow with ring sideroblasts accounting for 15% or more of erythroid precursors
Megakaryocytes with features resembling those in primary myelofibrosis (PMF) or essential thrombocythemia (ET).

In the 2022 WHO classification, MDS/MPN-RS-T is renamed MDS/MPN MDS/MPN with SF3B1 mutation and thrombocytosis. However, term MDS/MPN-RS-T was retained for cases with wild-type SF3B1 and at least 15% ring sideroblasts.^[44]

Additional Tests

MRI of the posterior cranial fossa is indicated in anemia-ataxia syndromes to rule out primary cerebellar pathology such as space-occupying lesions.

In congenital or suspected congenital anemias, determination of the exact mutation type (eg, ABC7) may provide useful information for the physician and the family members of affected patients, even if it may not affect immediate patient management. This can be accomplished by means of polymerase chain reaction (PCR) evaluation.

A urine porphyrin profile may reveal erythropoietic porphyria.

Treatment & Management

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Media Gallery

Ring sideroblast.
Heme synthesis.
Sideroblastic anemias: etiologic classification. DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness.
Iron and total iron-binding capacity in physiology and pathology.
Ringed sideroblast.
Heme synthesis pathway.
Normochromic vs hypochromic red blood cell (RBC).
Pappenheimer bodies seen on giemsa stain.
Basophilic stippling in lead poisoning.

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Author

Nandakumar Mohan, DO Resident Physician, Department of Internal Medicine, Einstein Medical Center Philadelphia

Disclosure: Nothing to disclose.

Coauthor(s)

Claudia M da Costa Dourado, MD Clinical Assistant Professor of Medicine, Sidney Kimmel Medical College of Thomas Jefferson University; Program Director, Hematology and Medical Oncology Fellowship Program, Attending Physician, Division of Hematology and Medical Oncology, Department of Medicine, Einstein Medical Center Philadelphia

Claudia M da Costa Dourado, MD is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Clarence Sarkodee Adoo, MD, FACP Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program

Clarence Sarkodee Adoo, MD, FACP is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Muhammad A Mir, MD, FACP Assistant Professor of Medicine (Hematology, Blood/Marrow Transplant) Milton S Hershey Medical Center, Pennsylvania State University College of Medicine

Muhammad A Mir, MD, FACP is a member of the following medical societies: American College of Physicians, American Society of Hematology, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Gerald L Logue, MD Professor of Medicine, Head of the Division of Hematology, Vice Chairman for Education, Department of Medicine, University of Buffalo State University of New York School of Medicine and Biomedical Sciences

Gerald L Logue, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American College of Physicians, American Society of Hematology, American Federation for Clinical Research

Disclosure: Nothing to disclose.