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Red cell phospholipid defect with hemolysis(HPCHA)

MedGen UID:
357960
•Concept ID:
C1867339
•
Disease or Syndrome
Synonyms: High red cell phosphatidylcholine hemolytic anemia; HPCHA; Leaky Red cell syndrome; Phosphatidylcholine Red cell membrane disorder
 
Monarch Initiative: MONDO:0008367
OMIM®: 179700

Clinical features

From HPO
Intermittent jaundice
MedGen UID:
871317
•Concept ID:
C4025805
•
Pathologic Function
Jaundice that is sometimes present, sometimes not.
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Eculizumab treatment modifies the immune profile of PNH patients.
Alfinito F, Ruggiero G, Sica M, Udhayachandran A, Rubino V, Della Pepa R, Palatucci AT, Annunziatella M, Notaro R, Risitano AM, Terrazzano G
Immunobiology 2012 Jul;217(7):698-703. Epub 2011 Dec 3 doi: 10.1016/j.imbio.2011.11.009. PMID: 22206707

Recent clinical studies

Etiology

Alterations to plasma membrane lipid contents affect the biophysical properties of erythrocytes from individuals with hypertension.
Martínez-Vieyra V, Rodríguez-Varela M, García-Rubio D, De la Mora-Mojica B, Méndez-Méndez J, Durán-Álvarez C, Cerecedo D
Biochim Biophys Acta Biomembr 2019 Oct 1;1861(10):182996. Epub 2019 May 28 doi: 10.1016/j.bbamem.2019.05.018. PMID: 31150634
Abnormality of erythrocyte membrane n-3 long chain polyunsaturated fatty acids in sickle cell haemoglobin C (HbSC) disease is not as remarkable as in sickle cell anaemia (HbSS).
Ren H, Ghebremeskel K, Okpala I, Ugochukwu CC, Crawford M, Ibegbulam O
Prostaglandins Leukot Essent Fatty Acids 2006 Jan;74(1):1-6. Epub 2005 Nov 28 doi: 10.1016/j.plefa.2005.10.002. PMID: 16314081
Congenital haemolytic anaemia in a low birth weight infant due to congenital stomatocytosis.
Huppi PS, Ott P, Amato M, Schneider H
Eur J Haematol 1991 Jul;47(1):1-9. doi: 10.1111/j.1600-0609.1991.tb00554.x. PMID: 1868910

Diagnosis

Acoustophoretic Orientation of Red Blood Cells for Diagnosis of Red Cell Health and Pathology.
Rico LG, Juncà J, Ward MD, Bradford JA, Bardina J, Petriz J
Sci Rep 2018 Oct 24;8(1):15705. doi: 10.1038/s41598-018-33411-0. PMID: 30356059Free PMC Article
Erythrocyte programmed cell death.
Föller M, Huber SM, Lang F
IUBMB Life 2008 Oct;60(10):661-8. doi: 10.1002/iub.106. PMID: 18720418
Mechanisms and significance of eryptosis.
Lang F, Lang KS, Lang PA, Huber SM, Wieder T
Antioxid Redox Signal 2006 Jul-Aug;8(7-8):1183-92. doi: 10.1089/ars.2006.8.1183. PMID: 16910766
Correction of the PNH defect by GPI-anchored protein transfer.
Sloand EM, Maciejewski JP, Dunn D, Moss J, Brewer B, Kirby M, Young NS
Blood 1998 Dec 1;92(11):4439-45. PMID: 9834251
Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria.
Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L
Proc Natl Acad Sci U S A 1993 Jun 1;90(11):5272-6. doi: 10.1073/pnas.90.11.5272. PMID: 8389477Free PMC Article

Therapy

Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova EB, Beuger BM, Veldthuis M, van der Werff Ten Bosch J, Kühnle I, van den Akker E, van den Berg TK, van Zwieten R, van Bruggen R
Exp Hematol 2015 Dec;43(12):1072-1076.e2. Epub 2015 Aug 28 doi: 10.1016/j.exphem.2015.08.007. PMID: 26320718
Temporal sequence of major biochemical events during blood bank storage of packed red blood cells.
Karon BS, van Buskirk CM, Jaben EA, Hoyer JD, Thomas DD
Blood Transfus 2012 Oct;10(4):453-61. Epub 2012 Mar 28 doi: 10.2450/2012.0099-11. PMID: 22507860Free PMC Article
Eculizumab treatment modifies the immune profile of PNH patients.
Alfinito F, Ruggiero G, Sica M, Udhayachandran A, Rubino V, Della Pepa R, Palatucci AT, Annunziatella M, Notaro R, Risitano AM, Terrazzano G
Immunobiology 2012 Jul;217(7):698-703. Epub 2011 Dec 3 doi: 10.1016/j.imbio.2011.11.009. PMID: 22206707
Mechanism of erythrocyte death in human population exposed to arsenic through drinking water.
Biswas D, Banerjee M, Sen G, Das JK, Banerjee A, Sau TJ, Pandit S, Giri AK, Biswas T
Toxicol Appl Pharmacol 2008 Jul 1;230(1):57-66. Epub 2008 Feb 15 doi: 10.1016/j.taap.2008.02.003. PMID: 18377941
Correction of the PNH defect by GPI-anchored protein transfer.
Sloand EM, Maciejewski JP, Dunn D, Moss J, Brewer B, Kirby M, Young NS
Blood 1998 Dec 1;92(11):4439-45. PMID: 9834251

Prognosis

Biochemical background of paroxysmal nocturnal hemoglobinuria.
Tomita M
Biochim Biophys Acta 1999 Oct 8;1455(2-3):269-86. doi: 10.1016/s0925-4439(99)00068-x. PMID: 10571018
Deficiency of glycosyl phosphatidylinositol-anchored proteins in polymorphonuclear leukocytes from patients with paroxysmal nocturnal hemoglobinuria with low-grade hemolysis.
Shibuya K, Ninomiya H, Muraki Y, Nagasawa T, Abe T
Int J Hematol 1993 Aug;58(1-2):15-20. PMID: 7693026
Congenital haemolytic anaemia in a low birth weight infant due to congenital stomatocytosis.
Huppi PS, Ott P, Amato M, Schneider H
Eur J Haematol 1991 Jul;47(1):1-9. doi: 10.1111/j.1600-0609.1991.tb00554.x. PMID: 1868910
Anemia with spur cells: a red cell defect acquired in serum and modified in the circulation.
Cooper RA
J Clin Invest 1969 Oct;48(10):1820-31. doi: 10.1172/JCI106148. PMID: 5822588Free PMC Article

Clinical prediction guides

Alterations to plasma membrane lipid contents affect the biophysical properties of erythrocytes from individuals with hypertension.
Martínez-Vieyra V, Rodríguez-Varela M, García-Rubio D, De la Mora-Mojica B, Méndez-Méndez J, Durán-Álvarez C, Cerecedo D
Biochim Biophys Acta Biomembr 2019 Oct 1;1861(10):182996. Epub 2019 May 28 doi: 10.1016/j.bbamem.2019.05.018. PMID: 31150634
Hemolysis in primary lipoprotein lipase deficiency.
Cantin B, Boudriau S, Bertrand M, Brun LD, Gagné C, Rogers PA, Ven Murthy MR, Lupien PJ, Julien P
Metabolism 1995 May;44(5):652-8. doi: 10.1016/0026-0495(95)90124-8. PMID: 7752915
Mechanisms of hemolysis in liver disease.
Morse EE
Ann Clin Lab Sci 1990 May-Jun;20(3):169-74. PMID: 2188563
Red blood cell membrane microviscosity correlates with posttransfusion survival.
McLean LR, Grote C, Silberstein EB, McGill M
Biochem Biophys Res Commun 1988 Jul 15;154(1):387-91. doi: 10.1016/0006-291x(88)90697-3. PMID: 3395339
Characteristics of the membrane defect in the hereditary stomatocytosis syndrome.
Wiley JS, Ellory JC, Shuman MA, Shaller CC, Cooper RA
Blood 1975 Sep;46(3):337-56. PMID: 1148392

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