Iron deficiency anemia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Associate Editor(s)-in-Chief: Sargun Singh Walia M.B.B.S.[2],Vamsikrishna Gunnam M.B.B.S [3]

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Overview

Iron deficiency anemia and Thalassemia Minor present with many of the same lab results. It is very important not to treat a patient with Thalassemia with an iron supplement as this can lead to hemochromatosis (accumulation of iron in the liver) A hemoglobin electrophoresis would provide useful evidence in distinguishing these two conditions, along with iron studies.

Differential Diagnosis

Disease Genetics Clinical manifestation Lab findings
History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Iron studies Specific finding on blood smear
Serum iron Serum Tfr level Transferrin or TIBC Ferritin Transferrin saturation
Iron deficiency anemia[1] Hypochromic Microcytic Nl or ↓ Nl Nl ↓↓↓
Iron deficiency anemia (early phase)[2] Normochromic Normocytic Nl Nl
Lead poisoning[3]
  • House painted with chipped paint
Hypochromic Microcytic Nl Nl or ↓ Nl Nl Nl to ↓ Nl Nl Nl to ↓
  • RBCs retain aggregates of rRNA
  • Basophilic stippling
Sideroblastic anemia[4] Hypochromic Microcytic Nl Nl or ↓ Nl Nl Nl Nl to ↓
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Anemia of chronic disease[5] Hypochromic Microcytic Nl Nl or ↓ Nl Nl NA
Thalassemia[6] α-thalassemia
  • α- globin gene deletions
  • Cis deletions
  • Trans deletions

β-thalassemia

α-thalassemia

β-thalassemia

Hypochromic Microcytic Nl
  • Thalassemia trait: Nl or ↓
  • Thalassemia Syndromes: ↑
Nl Nl Nl to ↑ Nl Nl Nl to ↑
G6PD deficiency[7]
  • History of using
+ Intrinsic Normochromic Normocytic ↑ but usually causes resolution within 4-7 days Nl to ↑ Nl
Pyruvate kinase deficiency[8] + Intrinsic Normochromic Normocytic Nl Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Sickle cell anemia[9] + Intrinsic Normochromic Normocytic Nl or moderately ↑ Nl Nl Nl or moderately ↑ Nl
HbC disease[10]
  • Glutamic acid–to-lysine mutation in β-globin
+ Intrinsic Normochromic Normocytic Nl Nl Nl Nl
Paroxysmal nocturnal hemoglobinuria[11][12] + Intrinsic Normochromic Normocytic Nl Nl NA
Hereditary spherocytosis[13] + Intrinsic Normochromic Normocytic Nl Nl Nl
  • Small, round RBCs with less surface area and no central pallor
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Microangiopathic hemolytic anemia[14][15] Associated with + Extrinsic Normochromic Normocytic Nl Nl
  • Helmet cells
Macroangiopathic hemolytic anemia[16] Associated with + Extrinsic Normochromic Normocytic Nl Nl
Autoimmune hemolytic anemia[17] Associated with:
  • Painful, blue fingers and toes with cold weather
+ Extrinsic Normochromic Normocytic Nl Nl
  • RBC agglutination
Aplastic anemia[18]
  • Symptoms based on underlying condition
Normochromic Normocytic Nl Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Folate deficiency[19]
  • Impaired DNA synthesis
Anisochromic Macrocytic Nl Nl
Vitamin B12 deficiency[20] Anisochromic Macrocytic Nl Nl
Orotic aciduria[21]
  • Neurological manifestation
Anisochromic Macrocytic Nl Nl NA
Fanconi anemia[22]
  • Significant for bilateral short thumbs
Anisochromic Macrocytic Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Diamond-Blackfan anemia[23] Mutations in:
  • RPL5
  • RPL11
  • RPL35A
  • RPS7
  • RPS10
  • RPS17
  • RPS19
  • RPS24
  • RPS26
Anisochromic Macrocytic Nl Nl Nl NA
Infections[24] Associated with + Extrinsic Normochromic Normocytic Nl Nl Nl
Chronic kidney disease[25] Normochromic Normocytic Nl/↑ Nl Nl
Liver disease[26]
  • Hepatitis
  • Binge drinking
  • Gall bladder disease
Anisochromic Macrocytic Nl Nl
Alcoholism[27] Anisochromic Macrocytic Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/

Extrinsic

Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear

References

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  2. De Andrade Cairo RC, Rodrigues Silva L, Carneiro Bustani N, Ferreira Marques CD (June 2014). "Iron deficiency anemia in adolescents; a literature review". Nutr Hosp. 29 (6): 1240–9. doi:10.3305/nh.2014.29.6.7245. PMID 24972460.
  3. Bain BJ (December 2014). "Lead poisoning". Am. J. Hematol. 89 (12): 1141. doi:10.1002/ajh.23852. PMID 25220013.
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