Aplastic anemia differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aric Hall, M.D., Beth Israel Deaconess Medical Center, Boston, MA [2]
Overview
The primary diagnostic dilemma is differentiating aplastic anemia from a hypocellular myelodysplastic syndrome.
Differentiating Aplastic anemia from other Diseases
Aplastic anemia must be differentiated based on different laboratory findings including mean cell volume (MCV), reticulocytosis, and hemolysis.
To review the differential diagnosis of anemia, see below table.
To review the differential diagnosis of microcytic anemia, click here.
To review the differential diagnosis of normocytic anemia, click here.
To review the differential diagnosis of macrocytic anemia, click here.
To review the differential diagnosis of hypochromic anemia, click here.
To review the differential diagnosis of normochromic anemia, click here.
To review the differential diagnosis of anisochromic anemia, click here.
To review the differential diagnosis of hemolytic anemia, click here.
To review the differential diagnosis of anemia with intrinsic hemolysis, click here.
To review the differential diagnosis of anemia with extrinsic hemolysis, click here.
To review the differential diagnosis of anemia with low reticulocytosis, click here.
To review the differential diagnosis of anemia with normal reticulocytosis, click here.
To review the differential diagnosis of anemia with high reticulocytosis, click here.
| 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] | β |
|
β | β | Hypochromic | Microcytic | β | Nl or β | Nl | Nl | β | β | β | β | βββ |
| ||
| Iron deficiency anemia (early phase)[2] | β |
|
β | β | Normochromic | Normocytic | β | β | Nl | Nl | β | β | β | β | β |
| ||
| Lead poisoning[3] | β |
|
|
|
β | β | Hypochromic | Microcytic | Nl | Nl or β | Nl | Nl | Nl to β | Nl | Nl | Nl to β | β | |
| Sideroblastic anemia[4] |
|
|
|
|
β | β | Hypochromic | Microcytic | Nl | Nl or β | Nl | Nl | β | Nl | Nl to β | β | β |
|
| 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] | β | β | β | β | Hypochromic | Microcytic | Nl | Nl or β | Nl | β | β | Nl | β | β | β | NA | ||
| Thalassemia[6] | Ξ±-thalassemia
|
|
Ξ±-thalassemia
|
β | β | Hypochromic | Microcytic | Nl |
|
Nl | Nl | Nl to β | Nl | Nl | β | Nl to β |
| |
| G6pd deficiency[7] |
|
+ | Intrinsic | Normochromic | Normocytic | β | β but usually causes resolution within 4-7 days | β | β | Nl to β | Nl | β | β | β |
| |||
| Pyruvate kinase deficiency[8] |
|
|
|
+ | Intrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | Nl | β | β |
| |
| 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 | β | β | β | Nl or moderately β | Nl | Nl | Nl or moderately β | β | Nl |
| ||
| HbC disease[10] |
|
|
+ | Intrinsic | Normochromic | Normocytic | β | β | β | Nl | Nl | Nl | Nl | β | β |
| ||
| Paroxysmal nocturnal hemoglobinuria[11][12] |
|
|
|
|
+ | Intrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | β | β | β | NA |
| Hereditary spherocytosis[13] |
|
|
+ | Intrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | β | Nl | β |
| ||
| 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] | β | Associated with |
|
+ | Extrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | β | β | β |
| |
| Macroangiopathic hemolytic anemia[16] | Associated with | + | Extrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | β | β | β | ||||
| Autoimmune hemolytic anemia[17] | β | Associated with: |
|
|
+ | Extrinsic | Normochromic | Normocytic | β | β | β | Nl | β | Nl | β | β | β |
|
| Aplastic anemia[18] |
|
|
|
β | β | Normochromic | Normocytic | β | β | Nl | Nl | β | β | Nl | β | β |
| |
| 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] |
|
|
|
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β |
|
| Vitamin B12 deficiency[20] |
|
|
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β | ||
| Orotic aciduria[21] |
|
|
|
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β | NA |
| Fanconi anemia[22] |
|
|
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β | ||
| 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:
|
|
|
|
β | β | Anisochromic | Macrocytic | Nl | β | Nl | Nl | β | β | β | β | β | NA |
| Infections[24] | β | Associated with | + | Extrinsic | Normochromic | Normocytic | β | β | β | Nl | Nl | Nl | β | β | β |
| ||
| Chronic kidney disease[25] | β | β | β | Normochromic | Normocytic | β | Nl/β | Nl | β | β | β | β | β | β | Nl | |||
| Liver disease[26] | β |
|
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β | ||
| Alcoholism[27] | β |
|
β | β | Anisochromic | Macrocytic | β | β | Nl | Nl | β | β | β | β | β | |||
| 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 |
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