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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

Aplastic Anemia
Bone marrow without hematopoiesis in an aplastic anemia patient.8 		Acquired/ Inherited 15 to 25 years old, or after 60 years old1 10-year survival rate:2
  • Children: 79%
  • Adults: 68%
 2 per 1,000,000 (North America and Europe; 2-3 times higher in East
Asia)3
  • Due to hematopoietic environmental/ chemical injury or autoimmune suppression of marrow cells1
  • Results in pancytopenia, hypocellular bone marrow, and marrow failure1
  • Can be mistaken for myelodysplastic anemia in older people1

Diamond-Blackfan

Diamond-Blackfan Anemia
Diamond-Blackfan anemia causes pancreatic dysfunction and bone marrow failure.8 		Inherited Birth to 1 year old1 5-year survival rate:4
  • 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 years:4
  • 57.2% in transfusion dependent patients
 Incidence: ~7 per 1,000,0001
  • Genetically heterogeneous1
  • Craniofacial dysmorphism1
  • Prenatal or postnatal growth failure1
  • Neck anomalies1
  • Thumb malformations1
  • Can be confused with transient erythroblastopenia of childhood1
  • 40% are transfusion-dependent4

Fanconi's

Fanconi's Anemia
Bone marrow in Fanconi's anemia shows aplastic characteristics.8 		Acquired/ Inherited 3 to 14 years old; average 8 years old1 Median survival: 24 years5 Incidence: <1 per 100,0001
  • Genetically heterogeneous, Autosomal recessive1
  • Occurs in all race and ethnic groups1
  • Development of short stature1
  • Patients can also have aplastic anemia6

Myelofibrosis

Myelofibrosis
Megakaryoblasts in a patient with myelofibrosis transforming into acute myelogenous leukemia.8 		Acquired 59 to 69 years old1 5 years1 0.5 to 1.3 per 100,000 in Europe, Australia, and North America; 84 cases per 100,000 in Japan1
  • Can show no symptoms for years6
  • People may feel tired and weak, have frequent infections, and bleed easily6
  • 20% of patients are asymptomatic and are diagnosed after having blood work for enlarged spleen1
  • Slenomegaly, leukoerythroblastosis, teardrop poikilocytosis1
  • Pulmonary hypertension1

Sideroblastic

Sideroblastic Anemia
Sideroblastic anemia: Ringed sideroblasts are the hallmark of this disease.8 		Acquired/ Inherited Infancy/ childhood; milder forms not until middle-age, rare onset in elderly patients1 42-76 months1 <200 published cases7
  • Ringed sideroblasts in bone marrow1
  • Genetically heterogeneous1
  • Idiopathic acquired form most commonly from chemotherapy; can be from "transitional" myelodysplastic anemia1
  • Inherited forms: X-linked, Autosomal dominant or recessive1
  • Symptoms of Pearson's Syndrome, copper and iron deficiency, zinc overload, and hypothermia1
  • Iron overload is common, resulting in diabetes and cardiac failure1

Anemia Organizations

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

Established Iron Toxicity Screening Methods

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.9 Current practice suggests that patients with aplastic and other anemias who receive multiple transfusions (10 or more) be screened for iron toxicity9. These screenings include:

  • Serum ferritin levels9
  • Liver iron concentration (liver biopsy or MRI)9

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

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References

  1. Hoffman R, Benz E, Shattil S, et al. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, PA: Elsevier; 2005.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Myelofibrosis. Merck Manual Home Edition. 2nd Home Edition, Online Version.
    http://www.merck.com/mmhe/sec14/ch178/ch178c.html. Updated October 2009. Accessed October 11, 2010    .
  7. Prevalence of rare diseases: Bibliographic data, Orphanet Report Series, Rare Diseases collection, May 2010, Number 1: Listed in alphabetical order of diseases. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
  8. American Society of Hematology Image Bank. www.ashimagebank.org. Accessed October 11, 2010.
  9. Porter JB. Practical management of iron overload. Br J Haematol. 2001;115(2):239-252.
TRANSFUSION-DEPENDENT
β-THALASSEMIA		 MYELODYSPLASTIC SYNDROMES SICKLE CELL DISEASE APLASTIC AND OTHER ANEMIAS TOOLS AND RESOURCES ALL ABOUT EXJADE

EXJADE is indicated for the treatment of chronic iron overload due to frequent blood transfusions (≥7 ml/kg/month of packed red blood cells) in patients with β-thalassemia major aged 6 years and older.

EXJADE is also indicated for the treatment of chronic iron overload due to blood transfusion in patients aged 2 years and older with β-thalassemia major or other anemias when deferoxamine is contraindicated or inadequate.
Disclaimer: This is an international website for Exjade, and is intended for healthcare professionals outside the US. If you are a US resident, please click on the US Residents link at the top of this page. The information on this site is not country-specific and may contain information that is outside the approved indications in the country in which you are located.
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