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: Priyamvada Singh, M.D.,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] | − |
|
|
|
− | − | Hypochromic | Microcytic | Nl | Nl or ↓ | Nl | Nl | Nl to ↓ | Nl | Nl | Nl to ↓ | − | |
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-thalassemia
|
− | − | Hypochromic | Microcytic | Nl |
|
Nl | Nl | Nl to ↑ | Nl | Nl | ↑ | Nl to ↑ |
| |
G6PD deficiency[7] |
|
+ | 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] |
|
|
+ | 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 | − |
| ||
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 | − | ↑ | − |
| |
Macroangiopathic hemolytic anemia[16] | Associated with | + | Extrinsic | Normochromic | Normocytic | ↑ | ↑ | ↓ | Nl | ↓ | Nl | − | − | − | ||||
Autoimmune hemolytic anemia[17] | − | Associated with: |
|
|
+ | Extrinsic | Normochromic | Normocytic | ↑ | ↑ | ↓ | Nl | ↓ | Nl | − | − | − |
|
Aplastic anemia[18] |
|
|
|
− | − | 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] |
|
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ |
|
Vitamin B12 deficiency[20] |
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | ||
Orotic aciduria[21] |
|
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | NA |
Fanconi anemia[22] |
|
|
|
− | − | 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:
|
|
|
|
− | − | 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] | − |
|
|
− | − | 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
- ↑ Camaschella C (May 2015). "Iron-deficiency anemia". N. Engl. J. Med. 372 (19): 1832–43. doi:10.1056/NEJMra1401038. PMID 25946282.
- ↑ 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.
- ↑ Bain BJ (December 2014). "Lead poisoning". Am. J. Hematol. 89 (12): 1141. doi:10.1002/ajh.23852. PMID 25220013.
- ↑ Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.
- ↑ Roy CN (2010). "Anemia of inflammation". Hematology Am Soc Hematol Educ Program. 2010: 276–80. doi:10.1182/asheducation-2010.1.276. PMID 21239806.
- ↑ Zainal NZ, Alauddin H, Ahmad S, Hussin NH (December 2014). "α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis". Malays J Pathol. 36 (3): 207–11. PMID 25500521.
- ↑ Luzzatto L, Seneca E (February 2014). "G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications". Br. J. Haematol. 164 (4): 469–80. doi:10.1111/bjh.12665. PMC 4153881. PMID 24372186.
- ↑ Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B (September 2015). "Erythrocyte pyruvate kinase deficiency: 2015 status report". Am. J. Hematol. 90 (9): 825–30. doi:10.1002/ajh.24088. PMC 5053227. PMID 26087744.
- ↑ Singh PC, Ballas SK (March 2015). "Emerging drugs for sickle cell anemia". Expert Opin Emerg Drugs. 20 (1): 47–61. doi:10.1517/14728214.2015.985587. PMID 25431087.
- ↑ Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P (2016). "Rheology of red blood cells in patients with HbC disease". Clin. Hemorheol. Microcirc. 61 (4): 571–7. doi:10.3233/CH-141906. PMID 25335812.
- ↑ Bunyaratvej A, Butthep P (January 1992). "Cytometric analysis of paroxysmal nocturnal hemoglobinuria erythrocytes". J Med Assoc Thai. 75 Suppl 1: 237–42. PMID 1402472.
- ↑ Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K (January 2015). "A novel marker for screening paroxysmal nocturnal hemoglobinuria using routine complete blood count and cell population data". Ann Lab Med. 35 (1): 35–40. doi:10.3343/alm.2015.35.1.35. PMC 4272963. PMID 25553278.
- ↑ Da Costa L, Galimand J, Fenneteau O, Mohandas N (July 2013). "Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders". Blood Rev. 27 (4): 167–78. doi:10.1016/j.blre.2013.04.003. PMID 23664421.
- ↑ Morishita E (July 2015). "[Diagnosis and treatment of microangiopathic hemolytic anemia]". Rinsho Ketsueki (in Japanese). 56 (7): 795–806. doi:10.11406/rinketsu.56.795. PMID 26251142.
- ↑ George JN, Charania RS (March 2013). "Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia". Semin. Thromb. Hemost. 39 (2): 153–60. doi:10.1055/s-0032-1333538. PMID 23390027.
- ↑ Westphal RG, Azen EA (May 1971). "Macroangiopathic hemolytic anemia due to congenital cardiovascular anomalies". JAMA. 216 (9): 1477–8. PMID 5108522.
- ↑ Hill QA (October 2015). "Autoimmune hemolytic anemia". Hematology. 20 (9): 553–4. doi:10.1179/1024533215Z.000000000401. PMID 26447931.
- ↑ Dolberg OJ, Levy Y (2014). "Idiopathic aplastic anemia: diagnosis and classification". Autoimmun Rev. 13 (4–5): 569–73. doi:10.1016/j.autrev.2014.01.014. PMID 24424170.
- ↑ Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G (March 2015). "Clinicopathologic features of folate-deficiency neuropathy". Neurology. 84 (10): 1026–33. doi:10.1212/WNL.0000000000001343. PMID 25663227.
- ↑ Hunt A, Harrington D, Robinson S (September 2014). "Vitamin B12 deficiency". BMJ. 349: g5226. PMID 25189324.
- ↑ Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G (April 2015). "Hereditary orotic aciduria with epilepsy and without megaloblastic anemia". Neuropediatrics. 46 (2): 123–5. doi:10.1055/s-0035-1547341. PMID 25757096.
- ↑ Alter BP (2014). "Fanconi anemia and the development of leukemia". Best Pract Res Clin Haematol. 27 (3–4): 214–21. doi:10.1016/j.beha.2014.10.002. PMC 4254647. PMID 25455269.
- ↑ Vlachos A, Blanc L, Lipton JM (June 2014). "Diamond Blackfan anemia: a model for the translational approach to understanding human disease". Expert Rev Hematol. 7 (3): 359–72. doi:10.1586/17474086.2014.897923. PMID 24665981.
- ↑ Bustinduy AL, Parraga IM, Thomas CL, Mungai PL, Mutuku F, Muchiri EM, Kitron U, King CH (March 2013). "Impact of polyparasitic infections on anemia and undernutrition among Kenyan children living in a Schistosoma haematobium-endemic area". Am. J. Trop. Med. Hyg. 88 (3): 433–40. doi:10.4269/ajtmh.12-0552. PMC 3592521. PMID 23324217.
- ↑ Drawz P, Rahman M (June 2015). "Chronic kidney disease". Ann. Intern. Med. 162 (11): ITC1–16. doi:10.7326/AITC201506020. PMID 26030647.
- ↑ Marks PW (July 2013). "Hematologic manifestations of liver disease". Semin. Hematol. 50 (3): 216–21. doi:10.1053/j.seminhematol.2013.06.003. PMID 23953338.
- ↑ Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K (May 2014). "Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men". Alcohol. Clin. Exp. Res. 38 (5): 1237–46. doi:10.1111/acer.12372. PMID 24588059.