Macrocytic anemia differential diagnosis: Difference between revisions

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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Transferrin saturation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Transferrin saturation
|-
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]]<ref name="pmid25946282">{{cite journal |vauthors=Camaschella C |title=Iron-deficiency anemia |journal=N. Engl. J. Med. |volume=372 |issue=19 |pages=1832–43 |date=May 2015 |pmid=25946282 |doi=10.1056/NEJMra1401038 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Menorrhagia]]
* [[GI]] loss
* [[Gastrointestinal tract|GI]] surgery
* [[Pregnancy]]
| align="left" style="background:#F5F5F5;" |
* [[Koilonychia]]
* [[Pica]]
| align="left" style="background:#F5F5F5;" |
* [[Glossitis]]
* [[Cheilosis]]
* [[Dysphagia]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl or ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | ↓↓↓
| align="left" style="background:#F5F5F5;" |
* Central [[pallor]]
|-
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]] (early phase)<ref name="pmid24972460">{{cite journal |vauthors=De Andrade Cairo RC, Rodrigues Silva L, Carneiro Bustani N, Ferreira Marques CD |title=Iron deficiency anemia in adolescents; a literature review |journal=Nutr Hosp |volume=29 |issue=6 |pages=1240–9 |date=June 2014 |pmid=24972460 |doi=10.3305/nh.2014.29.6.7245 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Pica]]
* [[Glossitis]]
* [[Angular cheilitis|Cheilosis]]
| align="left" style="background:#F5F5F5;" |
* [[Fatigue]]
* [[Headache]]
| align="left" style="background:#F5F5F5;" |
* [[Koilonychia]]
* Conjunctival [[pallor]]
* [[Xeroderma|Dry skin]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | ↓
| align="left" style="background:#F5F5F5;" |
* Pencil [[Cell (biology)|cells]]
* [[Hereditary elliptocytosis|Elliptocytosis]]
* Hypochromasia
|-
! align="center" style="background:#DCDCDC;" |[[Lead poisoning]]<ref name="pmid25220013">{{cite journal |vauthors=Bain BJ |title=Lead poisoning |journal=Am. J. Hematol. |volume=89 |issue=12 |pages=1141 |date=December 2014 |pmid=25220013 |doi=10.1002/ajh.23852 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* House painted with chipped paint
| align="left" style="background:#F5F5F5;" |
* Burtonian lines
* [[Basophilic]] [[Stippling (dentistry)|stippling]]
* [[Wrist drop]]
* [[Foot drop]]
| align="left" style="background:#F5F5F5;" |
* [[Wrist drop]]
* [[Foot drop]]
* Burtonian lines
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Intravascular|Hypochromic]]
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl or ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Red blood cell|RBCs]] retain aggregates of [[Ribosomal RNA|rRNA]]
* Basophilic stippling
|-
! align="center" style="background:#DCDCDC;" |[[Sideroblastic anemia]]<ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Defect in [[ALA synthase]] gene
* [[Autosomal dominant]]
* [[Autosomal recessive]]
* [[X-linked]]
| align="left" style="background:#F5F5F5;" |
* [[Alcohol]] abuse
* [[Isoniazid]] use
* [[Chloramphenicol]] use
* [[Idiopathic]]
| align="left" style="background:#F5F5F5;" |
* [[Seborrheic dermatitis]]
* Glossy Tongue
* [[Tingling]]
| align="left" style="background:#F5F5F5;" |
* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl or ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* Ringed [[Sideroblastic|sideroblasts]]
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/Extrinsic
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear
|-
! align="center" style="background:#DCDCDC;" |[[Anemia of chronic disease]]<ref name="pmid21239806">{{cite journal |vauthors=Roy CN |title=Anemia of inflammation |journal=Hematology Am Soc Hematol Educ Program |volume=2010 |issue= |pages=276–80 |date=2010 |pmid=21239806 |doi=10.1182/asheducation-2010.1.276 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Rheumatoid arthritis]]
* [[SLE]]
* [[Neoplasm]]
* [[Chronic kidney disease]]
| align="left" style="background:#F5F5F5;" |
* [[Headache]]
* [[Shortness of breath]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl or ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | NA
|-
! align="center" style="background:#DCDCDC;" |[[Thalassemia]]<ref name="pmid25500521">{{cite journal |vauthors=Zainal NZ, Alauddin H, Ahmad S, Hussin NH |title=α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis |journal=Malays J Pathol |volume=36 |issue=3 |pages=207–11 |date=December 2014 |pmid=25500521 |doi= |url=}}</ref>
| align="left" style="background:#F5F5F5;" | '''[[Thalassemia|α-thalassemia]]'''
* '''''α'''''- globin gene deletions
* [[Cis]] deletions
* [[Trans]] deletions
'''[[Thalassemia|β-thalassemia]]'''
* [[Point mutation]] in [[Splice site|splice sites]] and promoter sequences
| align="left" style="background:#F5F5F5;" |
* Associated with [[parvovirus B19]]
| align="left" style="background:#F5F5F5;" | [[Thalassemia|'''α-thalassemia''']]
* [[Hydrops fetalis]]
[[Thalassemia|'''β-thalassemia''']]
* [[Skeletal]] deformities
* Chipmunk facies
| align="left" style="background:#F5F5F5;" |
* [[Hepatomegaly]]
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]
| align="center" style="background:#F5F5F5;" | Nl
| align="left" style="background:#F5F5F5;" |
* Thalassemia trait: Nl or ↓
* Thalassemia Syndromes: ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl to ↑
| align="left" style="background:#F5F5F5;" |
* [[Target cell|Target cells]]
* Anisopoikilocytosis
|-
! align="center" style="background:#DCDCDC;" |[[Glucose 6 phosphate dehydrogenase deficiency|G6pd deficiency]]<ref name="pmid24372186">{{cite journal |vauthors=Luzzatto L, Seneca E |title=G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications |journal=Br. J. Haematol. |volume=164 |issue=4 |pages=469–80 |date=February 2014 |pmid=24372186 |pmc=4153881 |doi=10.1111/bjh.12665 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Defect in [[Glucose-6-phosphate dehydrogenase|G6PD]] enzyme
* X-Linked [[recessive]]
| align="left" style="background:#F5F5F5;" |
* History of using
** [[Sulfonamide (medicine)|Sulfa drugs]]
** [[Antimalarial drug|Antimalarials]]
** [[Fava bean|Fava Beans]]
* [[Infection|Infections]]
| align="left" style="background:#F5F5F5;" |
* [[Back pain]]
* [[Hemoglobinuria]]
| align="left" style="background:#F5F5F5;" |
* [[Back pain]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |Intrinsic
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑ but usually causes resolution within 4-7 days
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |Nl to ↑
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑
| align="left" style="background:#F5F5F5;" |
* [[Red blood cell|RBC]] with [[Heinz bodies]]
* Bite [[Cell (biology)|cells]]
* Blister [[Cell (biology)|cells]]
*
|-
! align="center" style="background:#DCDCDC;" |[[Pyruvate kinase deficiency]]<ref name="pmid26087744">{{cite journal |vauthors=Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B |title=Erythrocyte pyruvate kinase deficiency: 2015 status report |journal=Am. J. Hematol. |volume=90 |issue=9 |pages=825–30 |date=September 2015 |pmid=26087744 |pmc=5053227 |doi=10.1002/ajh.24088 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* [[Mutation]] in the ''[[PKLR]]'' and ''[[PKM2|PKM]]'' gene
* [[Autosomal recessive]]
| align="left" style="background:#F5F5F5;" |
* [[Gallstones]]
| align="left" style="background:#F5F5F5;" |
* [[Hydrops fetalis]]
* [[Neonatal hyperbilirubinemia]]
* [[Iron overload]]
* [[Perinatal]] complications
| align="left" style="background:#F5F5F5;" |
* Skin [[ulcers]]
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Intrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* Prickle [[cells]]
* Polychromatophilic [[erythrocytes]]
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/Extrinsic
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear
|-
! align="center" style="background:#DCDCDC;" |[[Sickle-cell disease|Sickle cell anemia]]<ref name="pmid25431087">{{cite journal |vauthors=Singh PC, Ballas SK |title=Emerging drugs for sickle cell anemia |journal=Expert Opin Emerg Drugs |volume=20 |issue=1 |pages=47–61 |date=March 2015 |pmid=25431087 |doi=10.1517/14728214.2015.985587 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Hbs [[point mutation]] causes a single [[Amino acid|amino acid]] replacement in β chain
| align="left" style="background:#F5F5F5;" |
* [[High altitude]]
* Low [[Oxygen]]
* [[Acidosis]]
* African-American race
* [[Parvovirus B19]] infection
| align="left" style="background:#F5F5F5;" |
* Painful crisis
** [[Dactylitis]]
** [[Priapism]]
** [[Acute chest syndrome]]
** [[Avascular necrosis|Avascular Necrosis]]
** [[Stroke]]
* [[Autosplenectomy]]
* [[Salmonella|Salmonella osteomyelitis]]
| align="left" style="background:#F5F5F5;" |
* [[Dactylitis]]
* [[Priapism]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Intrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="left" style="background:#F5F5F5;" |
* Increased [[erythropoiesis]]
* [[Howell-Jolly bodies]]
* [[Anisocytosis]]
|-
! align="center" style="background:#DCDCDC;" |HbC disease<ref name="pmid25335812">{{cite journal |vauthors=Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P |title=Rheology of red blood cells in patients with HbC disease |journal=Clin. Hemorheol. Microcirc. |volume=61 |issue=4 |pages=571–7 |date=2016 |pmid=25335812 |doi=10.3233/CH-141906 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Glutamic acid–to-lysine [[mutation]] in β-globin
| align="left" style="background:#F5F5F5;" |
* [[Gallstone]]
| align="left" style="background:#F5F5F5;" |
* [[Joint pains]]
* Increased risk of [[Infection|infections]]
| align="left" style="background:#F5F5F5;" |
* [[Splenomegaly]]
* [[Gallstone disease|Cholelithiasis]]
* [[Avascular necrosis|Avascular necrosis of the femoral head]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Intrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* Hemoglobin crystals inside [[RBCs]]
* [[Target cell|Target cells]]
|-
! align="center" style="background:#DCDCDC;" |[[Paroxysmal nocturnal hemoglobinuria]]<ref name="pmid1402472">{{cite journal |vauthors=Bunyaratvej A, Butthep P |title=Cytometric analysis of paroxysmal nocturnal hemoglobinuria erythrocytes |journal=J Med Assoc Thai |volume=75 Suppl 1 |issue= |pages=237–42 |date=January 1992 |pmid=1402472 |doi= |url=}}</ref><ref name="pmid25553278">{{cite journal |vauthors=Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K |title=A novel marker for screening paroxysmal nocturnal hemoglobinuria using routine complete blood count and cell population data |journal=Ann Lab Med |volume=35 |issue=1 |pages=35–40 |date=January 2015 |pmid=25553278 |pmc=4272963 |doi=10.3343/alm.2015.35.1.35 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* [[PIGA]] gene mutations
* Impaired  synthesis of [[GPI anchor]] for [[decay-accelerating  factor]]
| align="left" style="background:#F5F5F5;" |
* Associated with [[aplastic anemia]]
* [[Thrombosis]]
| align="left" style="background:#F5F5F5;" |
* [[Fatigue]]
* [[Chest pain]]
* [[Dyspnea]] on exertion
* [[Headache]]
| align="left" style="background:#F5F5F5;" |
* [[Hemolysis|Chronic hemolysis]]
* [[Hepatomegaly]]
* [[Ascites]]
* [[Papilledema]]
* Skin nodules
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Intrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | NA
|-
! align="center" style="background:#DCDCDC;" |[[Hereditary spherocytosis]]<ref name="pmid23664421">{{cite journal |vauthors=Da Costa L, Galimand J, Fenneteau O, Mohandas N |title=Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders |journal=Blood Rev. |volume=27 |issue=4 |pages=167–78 |date=July 2013 |pmid=23664421 |doi=10.1016/j.blre.2013.04.003 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* [[Mutations]] in [[Ankyrin]], [[Band 3]], [[Protein 4.2]], and [[spectrin]]
| align="left" style="background:#F5F5F5;" |
* Associated with [[parvovirus B19]]
* [[Cholelithiasis]]
* Megaloblastic crisis
| align="left" style="background:#F5F5F5;" |
* [[Aplastic crisis]]
| align="left" style="background:#F5F5F5;" |
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Intrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* Small, round [[Red blood cell|RBC]]s with less surface area and no central pallor
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/Extrinsic
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear
|-
! align="center" style="background:#DCDCDC;" |[[Microangiopathic hemolytic anemia]]<ref name="pmid26251142">{{cite journal |vauthors=Morishita E |title=[Diagnosis and treatment of microangiopathic hemolytic anemia] |language=Japanese |journal=Rinsho Ketsueki |volume=56 |issue=7 |pages=795–806 |date=July 2015 |pmid=26251142 |doi=10.11406/rinketsu.56.795 |url=}}</ref><ref name="pmid23390027">{{cite journal |vauthors=George JN, Charania RS |title=Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia |journal=Semin. Thromb. Hemost. |volume=39 |issue=2 |pages=153–60 |date=March 2013 |pmid=23390027 |doi=10.1055/s-0032-1333538 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" | Associated with
* [[Disseminated intravascular coagulation|DIC]]
* [[TTP]]
* [[Hemolytic-uremic syndrome|HUS]]
* [[SLE]]
* [[HELLP syndrome]]
* [[Hypertensive crisis|Hypertensive emergency]]
| align="left" style="background:#F5F5F5;" |
* [[Purpura]]
* [[Confusion]]
* [[Aphasia]]
* [[Diplopia]]
| align="left" style="background:#F5F5F5;" |
* [[Paresthesia|Numbness]] of an arm or hand
* [[Jaundice]]
* [[Pallor|Pale conjunctiva]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Extrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* Helmet cells
|-
! align="center" style="background:#DCDCDC;" |Macroangiopathic hemolytic anemia<ref name="pmid5108522">{{cite journal |vauthors=Westphal RG, Azen EA |title=Macroangiopathic hemolytic anemia due to congenital cardiovascular anomalies |journal=JAMA |volume=216 |issue=9 |pages=1477–8 |date=May 1971 |pmid=5108522 |doi= |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* [[Autoimmunity|Autoimmune]]
| align="left" style="background:#F5F5F5;" | Associated with
* [[Artificial heart valve|Prosthetic heart valves]]
* [[Aortic stenosis]]
| align="left" style="background:#F5F5F5;" |
* [[Pallor]]
* [[Fatigue]]
| align="left" style="background:#F5F5F5;" |
* Signs of [[anemia]]
* Complications of [[hemolysis]]
* Decreased vascular volume
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Extrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Spherocytosis|Spherocytes]] or [[Red blood cell|schistocytes]]
|-
! align="center" style="background:#DCDCDC;" |[[Autoimmune  hemolytic anemia]]<ref name="pmid26447931">{{cite journal |vauthors=Hill QA |title=Autoimmune hemolytic anemia |journal=Hematology |volume=20 |issue=9 |pages=553–4 |date=October 2015 |pmid=26447931 |doi=10.1179/1024533215Z.000000000401 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" | Associated with:
* [[SLE]]
* [[Chronic lymphocytic leukemia|CLL]]
* [[Mycoplasma pneumonia]]
| align="left" style="background:#F5F5F5;" |
* Painful blue fingers and toes on exposure to cold temperature
* [[Chest pain]]
* [[Rigor|Chills]]
* [[Dizziness]]
* [[Tachycardia]]
* [[Headache]]
* [[Fatigue]]
| align="left" style="background:#F5F5F5;" |
* Painful, blue fingers and toes with cold weather
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Extrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Red blood cell|RBC]] agglutination
|-
! align="center" style="background:#DCDCDC;" |[[Aplastic anemia]]<ref name="pmid24424170">{{cite journal |vauthors=Dolberg OJ, Levy Y |title=Idiopathic aplastic anemia: diagnosis and classification |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=569–73 |date=2014 |pmid=24424170 |doi=10.1016/j.autrev.2014.01.014 |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Constitutive expression of Tbet
* [[Mutation|Mutations]] in the [[perforin]] gene
* Mutations in ''SAP'' gene
| align="left" style="background:#F5F5F5;" |
* Exposure to [[Radiation]]
* Drugs like [[Benzene]], [[chloramphenicol]], [[Alkylating agent|alkylating agents]]
* Viral infections like [[EBV]], [[HIV]], [[Hepatitis]]
* [[Fanconi anemia]]
* Idiopathic like [[Immune]] mediated, primary stem cell defect
| align="left" style="background:#F5F5F5;" |
* Symptoms based on underlying condition
| align="left" style="background:#F5F5F5;" |
* Short stature
* [[Cafe-au-lait spots]]
* Thumb defects
* [[Radius (bone)|Radial]] defects
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" |−
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↓
| align="left" style="background:#F5F5F5;" |
* [[Pancytopenia]]
* Fatty [[Infiltration (medical)|infiltration]]
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/Extrinsic
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear
|-
|-
! align="center" style="background:#DCDCDC;" |[[Folate deficiency]]<ref name="pmid25663227">{{cite journal |vauthors=Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G |title=Clinicopathologic features of folate-deficiency neuropathy |journal=Neurology |volume=84 |issue=10 |pages=1026–33 |date=March 2015 |pmid=25663227 |doi=10.1212/WNL.0000000000001343 |url=}}</ref>  
! align="center" style="background:#DCDCDC;" |[[Folate deficiency]]<ref name="pmid25663227">{{cite journal |vauthors=Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G |title=Clinicopathologic features of folate-deficiency neuropathy |journal=Neurology |volume=84 |issue=10 |pages=1026–33 |date=March 2015 |pmid=25663227 |doi=10.1212/WNL.0000000000001343 |url=}}</ref>  
Line 816: Line 226:
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" |NA
|-
! align="center" style="background:#DCDCDC;" |[[Infection|Infections]]<ref name="pmid23324217">{{cite journal |vauthors=Bustinduy AL, Parraga IM, Thomas CL, Mungai PL, Mutuku F, Muchiri EM, Kitron U, King CH |title=Impact of polyparasitic infections on anemia and undernutrition among Kenyan children living in a Schistosoma haematobium-endemic area |journal=Am. J. Trop. Med. Hyg. |volume=88 |issue=3 |pages=433–40 |date=March 2013 |pmid=23324217 |pmc=3592521 |doi=10.4269/ajtmh.12-0552 |url=}}</ref>
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" | Associated with
* [[Malaria]]
* [[Babesia]]
| align="left" style="background:#F5F5F5;" |
* [[Fever]]
| align="left" style="background:#F5F5F5;" |
* [[Fever]]
* Signs of [[shock]]
* [[Headache]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | Extrinsic
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | −
| align="left" style="background:#F5F5F5;" |
* [[Trophozoite]]
* Maltese crosses
|-
! align="center" style="background:#DCDCDC;" |[[Chronic renal failure|Chronic kidney disease]]<ref name="pmid26030647">{{cite journal |vauthors=Drawz P, Rahman M |title=Chronic kidney disease |journal=Ann. Intern. Med. |volume=162 |issue=11 |pages=ITC1–16 |date=June 2015 |pmid=26030647 |doi=10.7326/AITC201506020 |url=}}</ref>
| align="center" style="background:#F5F5F5;" |−
| align="left" style="background:#F5F5F5;" |
* [[Pericarditis]]
* [[Encephalopathy]]
* [[Incontinence|Rectal incontinence]]
* Decreased [[libido]]
* [[Restless legs syndrome|Restless leg syndrome]]
| align="left" style="background:#F5F5F5;" |
* [[Polyuria]]
* [[Hematuria]]
* [[Edema]]
| align="left" style="background:#F5F5F5;" |
* [[Hypertension]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" |−
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |Nl/↑
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |−
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |Nl
|-
|-
! align="center" style="background:#DCDCDC;" |[[Hepato-biliary diseases|Liver disease]]<ref name="pmid23953338">{{cite journal |vauthors=Marks PW |title=Hematologic manifestations of liver disease |journal=Semin. Hematol. |volume=50 |issue=3 |pages=216–21 |date=July 2013 |pmid=23953338 |doi=10.1053/j.seminhematol.2013.06.003 |url=}}</ref>  
! align="center" style="background:#DCDCDC;" |[[Hepato-biliary diseases|Liver disease]]<ref name="pmid23953338">{{cite journal |vauthors=Marks PW |title=Hematologic manifestations of liver disease |journal=Semin. Hematol. |volume=50 |issue=3 |pages=216–21 |date=July 2013 |pmid=23953338 |doi=10.1053/j.seminhematol.2013.06.003 |url=}}</ref>  

Revision as of 16:11, 16 October 2018

Macrocytic anemia Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Amandeep Singh M.D.[2]

Overview

Megaloblastic anemia needs to be diffrentiated from other causes of anemia.

Differentiating Macrocytic Anemia from Other Diseases

To review the differential diagnosis of anemia, 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
Folate deficiency[1]
  • Impaired DNA synthesis
Anisochromic Macrocytic Nl Nl
Vitamin B12 deficiency[2] Anisochromic Macrocytic Nl Nl
Orotic aciduria[3]
  • Neurological manifestation
Anisochromic Macrocytic Nl Nl NA
Fanconi anemia[4]
  • 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[5] Mutations in:
  • RPL5
  • RPL11
  • RPL35A
  • RPS7
  • RPS10
  • RPS17
  • RPS19
  • RPS24
  • RPS26
Anisochromic Macrocytic Nl Nl Nl NA
Liver disease[6]
  • Hepatitis
  • Binge drinking
  • Gall bladder disease
Anisochromic Macrocytic Nl Nl
Alcoholism[7] 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

  1. 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.
  2. Hunt A, Harrington D, Robinson S (September 2014). "Vitamin B12 deficiency". BMJ. 349: g5226. PMID 25189324.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.