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Paroxysmal cold hemoglobinuria(PCH)

MedGen UID:
39693
•Concept ID:
C0086774
•
Disease or Syndrome
Synonym: PCH
SNOMED CT: Cold agglutinin hemoglobinuria (127057004); Cold hemoglobinuria (127057004); PCH - Paroxysmal cold hemoglobinuria (127057004); Cold Donath Landsteiner type autoimmune hemolytic anemia (127057004); Paroxysmal cold hemoglobinuria (127057004)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019533
Orphanet: ORPHA90035

Definition

Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal cold hemoglobinuria

Professional guidelines

PubMed

Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.
Loriamini M, Cserti-Gazdewich C, Branch DR
Int J Mol Sci 2024 Apr 12;25(8) doi: 10.3390/ijms25084296. PMID: 38673882Free PMC Article
Autoimmune Hemolytic Anemia in Children: Laboratory Investigation, Disease Associations, and Treatment Strategies.
Blackall D, Dolatshahi L
J Pediatr Hematol Oncol 2022 Apr 1;44(3):71-78. doi: 10.1097/MPH.0000000000002438. PMID: 35235549
Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Hill QA, Hill A, Berentsen S
Blood Adv 2019 Jun 25;3(12):1897-1906. doi: 10.1182/bloodadvances.2019000036. PMID: 31235526Free PMC Article

Recent clinical studies

Etiology

Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.
Loriamini M, Cserti-Gazdewich C, Branch DR
Int J Mol Sci 2024 Apr 12;25(8) doi: 10.3390/ijms25084296. PMID: 38673882Free PMC Article
Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria.
Zieg J, Flachsová E, Linhartová E, Konopásek P, Štolbová Š, Šimánková N, Fencl F, Pavlíček P, Suková M
J Pediatr Hematol Oncol 2023 Nov 1;45(8):e1010-e1013. Epub 2023 Sep 13 doi: 10.1097/MPH.0000000000002755. PMID: 37703450
Clinical Profile and Outcome of Childhood Autoimmune Hemolytic Anemia: A Single Center Study.
Thatikonda KB, Kalra M, Danewa A, Sachdeva P, Paul T, Sachdeva D, Sachdeva A
Indian Pediatr 2021 Aug 15;58(8):737-740. Epub 2021 Feb 25 doi: 10.1007/s13312-021-2282-7. PMID: 33634793Free PMC Article
Donath-Landsteiner test.
Kilty M, Ipe TS
Immunohematology 2019 Jan;35(1):3-6. PMID: 30908069
Transfusion therapy in autoimmune hemolytic anemia.
Jefferies LC
Hematol Oncol Clin North Am 1994 Dec;8(6):1087-104. PMID: 7860438

Diagnosis

Autoimmune Hemolytic Anemias: Classifications, Pathophysiology, Diagnoses and Management.
Loriamini M, Cserti-Gazdewich C, Branch DR
Int J Mol Sci 2024 Apr 12;25(8) doi: 10.3390/ijms25084296. PMID: 38673882Free PMC Article
Autoimmune Hemolytic Anemia in Children: Laboratory Investigation, Disease Associations, and Treatment Strategies.
Blackall D, Dolatshahi L
J Pediatr Hematol Oncol 2022 Apr 1;44(3):71-78. doi: 10.1097/MPH.0000000000002438. PMID: 35235549
Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Hill QA, Hill A, Berentsen S
Blood Adv 2019 Jun 25;3(12):1897-1906. doi: 10.1182/bloodadvances.2019000036. PMID: 31235526Free PMC Article
Paroxysmal cold hemoglobinuria.
Shanbhag S, Spivak J
Hematol Oncol Clin North Am 2015 Jun;29(3):473-8. Epub 2015 Mar 7 doi: 10.1016/j.hoc.2015.01.004. PMID: 26043386
Autoimmune hemolytic anemia.
Gehrs BC, Friedberg RC
Am J Hematol 2002 Apr;69(4):258-71. doi: 10.1002/ajh.10062. PMID: 11921020

Therapy

Paroxysmal cold hemoglobinuria: a difficult diagnosis in adult patients.
Zeller MP, Arnold DM, Al Habsi K, Cserti-Gazdewich C, Delage G, Lebrun A, Heddle NM
Transfusion 2017 Jan;57(1):137-143. Epub 2016 Nov 2 doi: 10.1111/trf.13888. PMID: 27807852
Treatment of autoimmune hemolytic anemias.
Zanella A, Barcellini W
Haematologica 2014 Oct;99(10):1547-54. doi: 10.3324/haematol.2014.114561. PMID: 25271314Free PMC Article
Cold antibody autoimmune hemolytic anemias.
Petz LD
Blood Rev 2008 Jan;22(1):1-15. Epub 2007 Sep 27 doi: 10.1016/j.blre.2007.08.002. PMID: 17904258
Acute paroxysmal cold hemoglobinuria.
Heddle NM
Transfus Med Rev 1989 Jul;3(3):219-29. doi: 10.1016/s0887-7963(89)70082-1. PMID: 2520556
Paroxysmal cold hemoglobinuria.
Djaldetti M
CRC Crit Rev Clin Lab Sci 1978;9(1):49-83. doi: 10.3109/10408367809150915. PMID: 401365

Prognosis

A Case of Paroxysmal Cold Hemoglobinuria Possessing Moderate Paroxysmal Nocturnal Hemoglobinuria-Type Erythrocytes.
Sugimoto T, Masui E, Ohata S, Goto H, Tomita T, Hashimoto H, Bouike Y
Am J Case Rep 2021 Nov 25;22:e933102. doi: 10.12659/AJCR.933102. PMID: 34819489Free PMC Article
Paroxysmal cold hemoglobinuria due to an IgA Donath-Landsteiner antibody.
Whipple NS, Moreau DA, Moulds JM, Hankins JS, Wang WC, Nottage KA
Pediatr Blood Cancer 2015 Nov;62(11):2044-6. Epub 2015 Jun 5 doi: 10.1002/pbc.25591. PMID: 26053459
Two case studies and a review of paroxysmal cold hemoglobinuria.
Slemp SN, Davisson SM, Slayten J, Cipkala DA, Waxman DA
Lab Med 2014 Summer;45(3):253-8; quiz e92. doi: 10.1309/LMWD51B2KIFSBLBJ. PMID: 25051079
Paroxysmal cold hemoglobinuria caused by an IgM-class Donath-Landsteiner antibody.
Hayashi H, Yasutomi M, Hayashi T, Yuasa M, Kawakita A, Hata I, Tanizawa A, Muramatsu H, Kojima S, Ohshima Y
Pediatr Int 2013 Oct;55(5):664-6. doi: 10.1111/ped.12110. PMID: 24134760
Autoimmune hemolytic anemia: classification and therapeutic approaches.
Sève P, Philippe P, Dufour JF, Broussolle C, Michel M
Expert Rev Hematol 2008 Dec;1(2):189-204. doi: 10.1586/17474086.1.2.189. PMID: 21082924

Clinical prediction guides

Clinical and epidemiological features of paroxysmal cold hemoglobinuria: a systematic review.
Jacobs JW, Figueroa Villalba CA, Booth GS, Woo JS, Stephens LD, Adkins BD
Blood Adv 2023 Jun 13;7(11):2520-2527. doi: 10.1182/bloodadvances.2022009516. PMID: 36716137Free PMC Article
Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Hill QA, Hill A, Berentsen S
Blood Adv 2019 Jun 25;3(12):1897-1906. doi: 10.1182/bloodadvances.2019000036. PMID: 31235526Free PMC Article
Paroxysmal cold hemoglobinuria: a difficult diagnosis in adult patients.
Zeller MP, Arnold DM, Al Habsi K, Cserti-Gazdewich C, Delage G, Lebrun A, Heddle NM
Transfusion 2017 Jan;57(1):137-143. Epub 2016 Nov 2 doi: 10.1111/trf.13888. PMID: 27807852
Red blood cell destruction in autoimmune hemolytic anemia: role of complement and potential new targets for therapy.
Berentsen S, Sundic T
Biomed Res Int 2015;2015:363278. Epub 2015 Jan 29 doi: 10.1155/2015/363278. PMID: 25705656Free PMC Article
Acute paroxysmal cold hemoglobinuria.
Heddle NM
Transfus Med Rev 1989 Jul;3(3):219-29. doi: 10.1016/s0887-7963(89)70082-1. PMID: 2520556

Recent systematic reviews

Clinical and epidemiological features of paroxysmal cold hemoglobinuria: a systematic review.
Jacobs JW, Figueroa Villalba CA, Booth GS, Woo JS, Stephens LD, Adkins BD
Blood Adv 2023 Jun 13;7(11):2520-2527. doi: 10.1182/bloodadvances.2022009516. PMID: 36716137Free PMC Article
Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Hill QA, Hill A, Berentsen S
Blood Adv 2019 Jun 25;3(12):1897-1906. doi: 10.1182/bloodadvances.2019000036. PMID: 31235526Free PMC Article

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