Fanconi anemia other diagnostic studies: Difference between revisions
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{{Fanconi anemia}} | {{Fanconi anemia}} | ||
{{CMG}}; {{AE}} {{shyam}} | |||
==Overview== | |||
Other diagnostic studies in Fanconi anemia include fetal hemoglobin assessment, adenosine deaminase study, and erythropoietin assay. | |||
==Other diagnostic studies== | |||
=== Fetal hemoglobin study === | === Fetal hemoglobin study === | ||
[[Fetal hemoglobin|Fetal hemoglobin (HbF)]] may be increased for age as a manifestation of stress erythropoiesis. | [[Fetal hemoglobin|Fetal hemoglobin (HbF)]] may be increased for age as a manifestation of stress erythropoiesis.<ref name="pmid27456001">{{cite journal| author=Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M et al.| title=Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis. | journal=Orphanet J Rare Dis | year= 2016 | volume= 11 | issue= 1 | pages= 102 | pmid=27456001 | doi=10.1186/s13023-016-0485-0 | pmc=4960735 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27456001 }} </ref> | ||
=== Adenosine deaminase study === | === Adenosine deaminase study === | ||
Red cell [[Adenosine deaminase|adenosine deaminase (ADA)]] is increased in approximately 85% of patients with Diamond-Blackfan anemia (DBA) but appears to be normal in Fanconi anemia. | Red cell [[Adenosine deaminase|adenosine deaminase (ADA)]] is increased in approximately 85% of patients with Diamond-Blackfan anemia (DBA) but appears to be normal in Fanconi anemia.<ref name="pmid23252420">{{cite journal| author=Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K et al.| title=Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. | journal=Br J Haematol | year= 2013 | volume= 160 | issue= 4 | pages= 547-54 | pmid=23252420 | doi=10.1111/bjh.12167 | pmc=3609920 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23252420 }} </ref> | ||
=== Serum erythropoietin study === | === Serum erythropoietin study === | ||
Serum [[Erythropoietin|erythropoietin (Ep)]] levels are markedly increased and higher than expected for the degree of anemia, similar to that observed in DBA. However, levels may be low in patients with impaired renal function. | Serum [[Erythropoietin|erythropoietin (Ep)]] levels are markedly increased and higher than expected for the degree of anemia, similar to that observed in DBA. However, levels may be low in patients with impaired renal function.<ref name="pmid18047734">{{cite journal| author=Jacquemont C, Taniguchi T| title=The Fanconi anemia pathway and ubiquitin. | journal=BMC Biochem | year= 2007 | volume= 8 Suppl 1 | issue= | pages= S10 | pmid=18047734 | doi=10.1186/1471-2091-8-S1-S10 | pmc=2106361 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18047734 }} </ref> | ||
==References== | ==References== | ||
Latest revision as of 21:54, 28 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
Other diagnostic studies in Fanconi anemia include fetal hemoglobin assessment, adenosine deaminase study, and erythropoietin assay.
Other diagnostic studies
Fetal hemoglobin study
Fetal hemoglobin (HbF) may be increased for age as a manifestation of stress erythropoiesis.[1]
Adenosine deaminase study
Red cell adenosine deaminase (ADA) is increased in approximately 85% of patients with Diamond-Blackfan anemia (DBA) but appears to be normal in Fanconi anemia.[2]
Serum erythropoietin study
Serum erythropoietin (Ep) levels are markedly increased and higher than expected for the degree of anemia, similar to that observed in DBA. However, levels may be low in patients with impaired renal function.[3]
References
- ↑ Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M; et al. (2016). "Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis". Orphanet J Rare Dis. 11 (1): 102. doi:10.1186/s13023-016-0485-0. PMC 4960735. PMID 27456001.
- ↑ Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K; et al. (2013). "Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia". Br J Haematol. 160 (4): 547–54. doi:10.1111/bjh.12167. PMC 3609920. PMID 23252420.
- ↑ Jacquemont C, Taniguchi T (2007). "The Fanconi anemia pathway and ubiquitin". BMC Biochem. 8 Suppl 1: S10. doi:10.1186/1471-2091-8-S1-S10. PMC 2106361. PMID 18047734.