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Categorizing Rare Anemia and Identifying Iron Toxicity

Categorizing Other Anemias and Identifying Iron Toxicity

A variety of rare anemias exist, many of which are inherited disorders that show symptoms at birth or very young age. Diagnosis can occur during their first few years of life, but many patients develop symptoms over time. These symptoms can mimic other diseases, including other rare and common anemias, and therefore delay proper diagnosis and proper treatment.

Click on enlargement icon by the anemia names to see the effects on red blood cells.

An Illustration of Rare Anemias
Anemia Trait Age of Diagnosis Survival Rate Incidence Characteristics


Aplastic Anemia

Bone marrow without hematopoiesis in an aplastic anemia patient.1

Acquired/ Inherited2 15 to 25 years old, or after 60 years old3 10-year survival rate4:
  • Children: 79%
  • Adults: 68%
2 per 1,000,000 (North America and Europe; 2-3 times higher in East Asia)5
  • Due to hematopoietic environmental/chemical injury or autoimmune suppression of marrow cells6
  • Results in pancytopenia, hypocellular bone marrow, and marrow failure3
  • Can be mistaken for myelodysplastic anemia in older people3


Diamond-Blackfan Anemia

Diamond-Blackfan anemia causes pancreatic dysfunction and bone marrow failure.13

Inherited3 Birth to 1 year old3 5-year survival rate7:
  • 72.7% after receiving matched stem cell donor transplant
  • 92.3% with matched stem cell donor transplant before age 10
  • 17.1% with alternative stem cell donor transplant
Greater than 40 years7:
  • 57.2% in transfusion dependent patients
~7 per 1,000,0003
  • Genetically heterogeneous3
  • Craniofacial dysmorphism3
  • Prenatal or postnatal growth failure3
  • Neck anomalies3
  • Thumb malformations3
  • Can be confused with transient erythroblastopenia of childhood3
  • 40% are transfusion-dependent7


Bone marrow in Fanconi′s anemia shows aplastic characteristics.1

Acquired/ Inherited3 3 to 14 years old; average 8 years old3 Median survival: 24 years8 Incidence: <1 per 100,0003
  • Genetically heterogeneous, autosomal recessive3
  • Occurs in all races and ethnic groups3
  • Development of short stature3
  • Patients can also have aplastic anemia9


Megakaryoblasts in a patient with myelofibrosis transforming into acute myelogenous leukemia.1

Acquired3 59 to 69 years old3 5 years3 0.5 to 1.3 per 100,000 in Europe, Australia, and North America; 84 cases per 100,000 in Japan3
  • Can show no symptoms for years10
  • People may feel tired and weak, have frequent infections, and bleed easily10
  • 20% of patients are asymptomatic and are diagnosed after having blood work for enlarged spleen3
  • Slenomegaly, leukoerythroblastosis, teardrop poikilocytosis3
  • Pulmonary hypertension3


Sideroblastic anemia: Ringed sideroblasts are the hallmark of this disease.1

Acquired/ Inherited3 Infancy/ childhood; milder forms not until middle-age, rare onset in elderly patients3 42-76 months3 <200 published cases11
  • Ringed sideroblasts in bone marrow3
  • Genetically heterogeneous3
  • Idiopathic acquired form most commonly from chemotherapy; can be from "transitional" myelodysplastic anemia3
  • Inherited forms: X-linked, autosomal dominant or recessive3
  • Symptoms of Pearson′s Syndrome, copper and iron deficiency, zinc overload, and hypothermia3
  • Iron overload is common, resulting in diabetes and cardiac failure3

Drag left on above table to view complete data.

Anemia Organizations

Learn more and get further information on rare anemias by visiting these websites:

Established Iron Toxicity Screening Methods12

The rate of blood transfusions can vary among rare anemias, and iron toxicity treatment should be determined relative to transfusion records and the patient′s risk. Current practice suggests that patients with aplastic and other anemias who receive multiple transfusions (10 or more) be screened for iron toxicity. These screenings include:

  • Serum ferritin levels
  • Liver iron concentration (liver biopsy or MRI)


EXJADE reduces iron toxicity in the largest iron chelation trial to date.

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Find answers to all of your EXJADE questions.

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  1. American Society of Hematology Image Bank. www.ashimagebank.org. Accessed October 9, 2013
  2. Aplastic anemia: Causes. Aplastic Anemia and MDS Foundation. http://www.aamds.org/node/49. Accessed October 9, 2013.
  3. Hoffman R, Benz E, Shattil S, et al. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, PA: Elsevier; 2005.
  4. Locasciulli A, Oneto R, Bacigalupo A, et al. Outcome of patients with acquired aplastic anemia given first line bone marrow transplantation or immunosuppressive treatment in the last decade: a report from the European Group for Blood and Marrow Transplantation. Haematologica. 2007;92(1):11-89.
  5. Marsh JC, Ball SE, Darbyshire P, Gordon-Smith EC. Guidelines for the diagnosis and management of acquired aplastic anaemia. Br J Haematol. 2003;123(5):782-801.
  6. Young NS, Kaufman DW. The epidemiology of acquired aplastic anemia. Haematologica. 2008;93(4):489-492.
  7. Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-876.
  8. Kutler D, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101(4):1249-1256.
  9. Soulier J. Fanconi anemia. Hematology Am Soc Hematol Educ Program. 2011;2011:492-497.
  10. Myelofibrosis. Merck Manual Home Edition. 2nd Home Edition, Online Version.
    http://www.merck.com/mmhe/sec14/ch178/ch178c.html. Accessed October 17, 2013.
  11. Prevalence of rare diseases: Bibliographic data, Orphanet Report Series, Rare Diseases collection, June 2013, Number 1: Listed in alphabetical order of diseases. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. Accessed October 17, 2013.
  12. Porter JB. Practical management of iron overload. Br J Haematol. 2001;115(2):239-252.
  13. PathPedia. Pure red cell aplasia (PRA). Image ID: BM064.1. Available at: http://www.pathpedia.com/education/eatlas/histopathology/bone_marrow/pure_red_cell_aplasia_(pra).aspx. Accessed July 18, 2014.