Thalassemia differential diagnosis: Difference between revisions

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{{Thalassemia}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Thalassemia]]
{{CMG}}
{{CMG}}; {{AE}}{{shyam}}
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==Overview==
==Overview==
A variety of diseases can mimic thalassemia. These include sickle cell anemia, iron-deficiency anemia, hemolytic anemia, sideroblastic anemia, anemia of chronic disease, vitamin B12 deficiency, and erythropoietin deficiency. It is important to distinguish amongst these conditions, as each condition has different clinical consequences and treatment considerations.
==Differential Diagnosis==


==Differential Diagnosis==
{| class="wikitable"
!Characteristic/Parameter
!Etiology
!Mean corpuscular volume
!Laboratory abnormalities
!Physical examination
!Treatment
!Other associated abnormalities
|-
||[[Thalassemia]] 
|
* [[Genetic defect]] with alpha- or [[beta-globin]] production
* Absence of alpha or beta-globin chains
|
* [[Microcytic]] (<80 femtoliter) in most cases
|
* Abnormal [[hemoglobin]] [[electrophoresis]]
* Abnormal [[high performance liquid chromatography]]<ref name="pmid16461765">{{cite journal| author=Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH| title=Screening and counseling for thalassemia. | journal=Blood | year= 2006 | volume= 107 | issue= 4 | pages= 1735-7 | pmid=16461765 | doi=10.1182/blood-2005-09-3557 | pmc=1895412 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16461765  }} </ref>
* Elevated ferritin (due to frequent transfusions and iron overload)
* Microcytic hypochromic anemia
|
* [[Irritability]]
* [[Growth retardation]]
* [[Jaundice]]
* [[Hepatomegaly]]
* [[Splenomegaly]]
|
* [[Blood transfusion|Transfusion]] support
* [[Iron]] chelation
* [[Gene therapy]] if available
* Patient education and genetic counseling
|
* [[Extramedullary hematopoiesis]]
* [[Mental retardation]]<ref name="pmid23028133">{{cite journal| author=Gibbons RJ| title=α-Thalassemia, mental retardation, and myelodysplastic syndrome. | journal=Cold Spring Harb Perspect Med | year= 2012 | volume= 2 | issue= 10 | pages=  | pmid=23028133 | doi=10.1101/cshperspect.a011759 | pmc=3475406 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23028133  }} </ref>
* [[Myelodysplastic syndrome]]<ref name="pmid23028133">{{cite journal| author=Gibbons RJ| title=α-Thalassemia, mental retardation, and myelodysplastic syndrome. | journal=Cold Spring Harb Perspect Med | year= 2012 | volume= 2 | issue= 10 | pages=  | pmid=23028133 | doi=10.1101/cshperspect.a011759 | pmc=3475406 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23028133  }} </ref>
|-
||[[Sickle cell anemia]] 
|
* [[Genetic defect]] resulting in sickled hemoglobin
* Point mutation in beta-globin chain, converting glutamic acid to valine
|
* [[Microcytic]] (<80 femtoliter) or normocytic
|
* Abnormal [[hemoglobin]] [[electrophoresis]] with elevated HbSS fraction
* Sickled [red blood cells]] on peripheral blood smear
* Elevated ferritin (due to frequent transfusions and iron overload)
* Elevated [[red blood cell]] mass
|
* Vaso-occlusion in peripheral vascular beds
* [[Jaundice]] from hemolysis
* [[Hepatomegaly]]
* [[Splenomegaly]]
|
* Folate supplemention
* Hydroxyurea (to increase fetal [[hemoglobin]] production
* Oxygen supplemention
* [[Blood transfusion|Transfusion]] support
* [[Iron]] chelation
* [[Gene therapy]] if available
* Crizanlizumab (P-selectin inhibitor)
* Patient education and genetic counseling
|
* [[Extramedullary hematopoiesis]]
* Pain crises
* Acute chest syndrome
|-
|[[Iron deficiency anemia]]
|
* Loss of [[iron]] from occult bleeding
* [[Gastrointestinal]] [[blood loss]]
* [[Menstrual]] [[blood loss]]
* Dietary iron deficiency
|
* [[Microcytic]] (<80 femtoliter)
|
* Low serum [[iron]]
* Elevated [[transferrin]]
* Low [[transferrin saturation]]
* Low [[ferritin]]
|
* [[Pallor]]
* [[Weakness]]
* Positive [[occult blood]] testing (if [[Gastrointestinal bleeding|GI bleeding]])
|
* Intravenous or oral iron supplementation
* Blood transfusions
|
* [[Blood loss|Chronic blood loss]]
|-
|[[Hemolytic anemia]] 
|
* Medication-induced
* [[Autoimmunity]]
* [[Red blood cell]] membrane defect
* [[Red blood cell]] enzyme defect
* Shear stress from mechanical valves
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Indirect [[hyperbilirubinemia]]
* [[Reticulocytosis]]
* Low [[haptoglobin]]
* Elevated [[LDH]]
|
* [[Pallor]]
* [[Jaundice]]
|
* Removal of offending agent causing hemolysis
* [[Steroids]]
* Alternative [[immunosuppression]]
|
* [[HELLP syndrome]]
* [[TTP]]
* [[Chronic lymphocytic leukemia|CLL]]
|-
|[[Sideroblastic anemia]]
|
* [[Alcoholism]]
* [[Lead poisoning]]
* [[Vitamin B6 deficiency]]
* [[Isoniazid]]
* [[Chloramphenicol]]
|
* [[Microcytic anemia|Microcytic]] (<80 femtoliter)
Or
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Ringed sideroblasts in [[bone marrow]]
* Low [[vitamin B6]] level
* High [[lead]] level
|
* [[Pallor]]
 
* [[Muscle weakness|Weakness]]
|
* Removal of offending [[medication]]
* High-dose [[vitamin B6]] (up to 200mg daily)
* Avoidance of [[splenectomy]]
* Symptomatic [[Blood transfusion|transfusion]] support with [[iron]] [[chelation]] as needed
|
* [[Myelodysplastic syndrome]]
* [[Myeloproliferative neoplasm]]
* [[Iron overload]]
|-
|[[Anemia of chronic disease]]
|
* [[Chronic kidney disease]]
* [[Rheumatologic disease]]
* [[Cancer]]
* [[HIV]]
* Chronic infection; excess release of [[IL-1]] and [[IL-6]]
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Elevated [[ESR]] and [[CRP]]
* Elevated [[hepcidin]]
* Low serum [[iron]]
* Low [[transferrin]]
* Elevated [[ferritin]]
|
* [[Pallor]]
 
* [[Weakness]]
|
* Treatment of the underlying cause; [[erythropoiesis]]-stimulating agents
* Supportive [[Red blood cell transfusion|red blood cell transfusions]]
|
* [[Inflammatory bowel disease]]
|-
|[[Erythropoietin]] deficiency
|
* [[Chronic kidney disease]] or other [[renal dysfunction]]
|
* [[Normocytic anemia|Normocytic]] (80-100 femtoliter)
|
* Low [[Erythropoietin|erythropoietin level]]
|
* [[Pallor]]
* [[Weakness]]
* Signs of [[chronic kidney disease]]
|
* [[Epoetin alfa]] 50-100 units/kg 3 times weekly
* Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks<ref name="pmid28626220">{{cite journal| author=Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J et al.| title=A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes. | journal=Leukemia | year= 2017 | volume= 31 | issue= 9 | pages= 1944-1950 | pmid=28626220 | doi=10.1038/leu.2017.192 | pmc=5596208 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28626220  }} </ref>
|
* [[Dialysis]] dependence
* [[Myelodysplastic syndrome]]
|-
|[[Vitamin B12 deficiency|Vitamin B12]] or [[folate deficiency]]
|
* [[Pernicious anemia]]
* [[Diphyllobothrium latum infection]]
* [[Nutritional deficiency]]
* [[Crohn's disease|Crohn's disease of terminal ileum]]
|
* [[Macrocytic anemia|Macrocytic]] (>100 femtoliter)
|
* Low vitamin B12 or folate level
* [[Megaloblastic anemia]] with  hypersegmented [[neutrophils]]
|
* [[Numbness]]
* [[Weakness]]
* [[Tingling]]
* [[Paresthesias]]
|
* [[Vitamin B12]] 1000mcg daily
* [[Folate]] 1mg daily
|
* [[Neuropathy]]
|}


==References==
==References==

Latest revision as of 20:30, 27 February 2019

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


Overview

A variety of diseases can mimic thalassemia. These include sickle cell anemia, iron-deficiency anemia, hemolytic anemia, sideroblastic anemia, anemia of chronic disease, vitamin B12 deficiency, and erythropoietin deficiency. It is important to distinguish amongst these conditions, as each condition has different clinical consequences and treatment considerations.

Differential Diagnosis

Characteristic/Parameter Etiology Mean corpuscular volume Laboratory abnormalities Physical examination Treatment Other associated abnormalities
Thalassemia
Sickle cell anemia
  • Genetic defect resulting in sickled hemoglobin
  • Point mutation in beta-globin chain, converting glutamic acid to valine
  • Abnormal hemoglobin electrophoresis with elevated HbSS fraction
  • Sickled [red blood cells]] on peripheral blood smear
  • Elevated ferritin (due to frequent transfusions and iron overload)
  • Elevated red blood cell mass
  • Folate supplemention
  • Hydroxyurea (to increase fetal hemoglobin production
  • Oxygen supplemention
  • Transfusion support
  • Iron chelation
  • Gene therapy if available
  • Crizanlizumab (P-selectin inhibitor)
  • Patient education and genetic counseling
Iron deficiency anemia
  • Intravenous or oral iron supplementation
  • Blood transfusions
Hemolytic anemia
Sideroblastic anemia

Or

Anemia of chronic disease
Erythropoietin deficiency
  • Epoetin alfa 50-100 units/kg 3 times weekly
  • Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks[3]
Vitamin B12 or folate deficiency

References

  1. Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia". Blood. 107 (4): 1735–7. doi:10.1182/blood-2005-09-3557. PMC 1895412. PMID 16461765.
  2. 2.0 2.1 Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome". Cold Spring Harb Perspect Med. 2 (10). doi:10.1101/cshperspect.a011759. PMC 3475406. PMID 23028133.
  3. Platzbecker U, Symeonidis A, Oliva EN, Goede JS, Delforge M, Mayer J; et al. (2017). "A phase 3 randomized placebo-controlled trial of darbepoetin alfa in patients with anemia and lower-risk myelodysplastic syndromes". Leukemia. 31 (9): 1944–1950. doi:10.1038/leu.2017.192. PMC 5596208. PMID 28626220.

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