Details of Disease

Disease Name

Hemolytic anemia

hemolytic anemia; anemia, hemolytic; anemia hemolytic; anaemia hemolytic

Definition

Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.

Disease Hierarchy

:

DIS803XQ: Hemolytic anemia

Disease Identifiers

MONDO ID

MONDO_0003664

MESH ID

D000743

UMLS CUI

C0002878

MedGen ID

1916

HPO ID

HP:0001878

SNOMED CT ID

61261009

General Information of Disease (ID: DIS803XQ)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 20 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCLM	TTNFESW	Limited	Genetic Variation	[1]
EIF2AK1	TTRUJBV	moderate	Biomarker	[2]
GSR	TTEP6RV	moderate	Biomarker	[3]
IFNA2	TTSIUJ9	moderate	Biomarker	[4]
ADAMTS13	TTUREBK	Strong	Biomarker	[5]
ANK1	TTKFPMH	Strong	Genetic Variation	[6]
CD40LG	TTIJP3Q	Strong	Altered Expression	[7]
CD59	TTBGTEJ	Strong	Biomarker	[8]
EPO	TTQG4NR	Strong	Biomarker	[9]
G6PD	TTKN8W0	Strong	Biomarker	[10]
GPI	TT19JIZ	Strong	Genetic Variation	[11]
GSS	TTVEWR4	Strong	Genetic Variation	[12]
HBA2	TTQO71U	Strong	Genetic Variation	[13]
HBB	TTM6HK1	Strong	Biomarker	[14]
HMOX1	TTI6V2A	Strong	Biomarker	[15]
RHAG	TTVHFE8	Strong	Genetic Variation	[16]
SIRPA	TTBRJS9	Strong	Biomarker	[17]
SLC2A1	TT79TKF	Strong	Genetic Variation	[18]
UGT1A1	TT34ZAF	Strong	Genetic Variation	[19]
PKLR	TT31N4S	Definitive	Genetic Variation	[20]
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⏷ Show the Full List of 20 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Limited	Genetic Variation	[21]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GCLC	DESYL1F	Limited	Biomarker	[22]
ALAS2	DE437BY	moderate	Biomarker	[23]
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This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
H6PD	OTO7TNDD	Limited	Biomarker	[24]
PIEZO1	OTBG1FU4	Limited	Genetic Variation	[25]
TPI1	OT14KP4B	Limited	Genetic Variation	[26]
A2M	OTFTX90K	moderate	Biomarker	[27]
COL4A1	OTL6D1YE	moderate	Genetic Variation	[28]
ABCG8	OTIJ76XW	Strong	Altered Expression	[29]
ADD2	OTRCPCD2	Strong	Biomarker	[30]
ALDH9A1	OTNWHUJ1	Strong	Genetic Variation	[31]
ALDOA	OTWRFTIB	Strong	Genetic Variation	[32]
CP	OTM8JE4Y	Strong	Biomarker	[33]
DMTN	OTDTKPBW	Strong	Genetic Variation	[30]
FUBP1	OT77SC9N	Strong	Genetic Variation	[34]
HBA1	OTW2BQF4	Strong	Genetic Variation	[13]
HBG2	OT4J48JJ	Strong	Altered Expression	[35]
HEPH	OTZ2F15Z	Strong	Biomarker	[36]
HFE	OTDD93KB	Strong	Genetic Variation	[37]
MED25	OTDBY87B	Strong	Biomarker	[38]
NT5C3A	OT67KZJA	Strong	Altered Expression	[39]
PGK1	OT6V1ICH	Strong	Genetic Variation	[40]
PRDX2	OTLWCY9T	Strong	Biomarker	[41]
RAB14	OTF1J0TB	Strong	Genetic Variation	[34]
SMARCA5	OT5GR4Z2	Strong	Altered Expression	[42]
SPTA1	OT1YMP65	Strong	Genetic Variation	[43]
SPTB	OT1Q9ABM	Strong	Biomarker	[44]
KLF1	OT1FK08U	Definitive	Genetic Variation	[45]
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⏷ Show the Full List of 25 DOT(s)

References

1	A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.Blood. 2000 Apr 1;95(7):2193-6.
2	Heme-regulated eIF2 kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress.Chem Res Toxicol. 2015 Mar 16;28(3):460-9. doi: 10.1021/tx500422q. Epub 2014 Dec 1.
3	[A new enzymopenic hemolytic anemia with glutathione reductase deficiency].Med Klin. 1962 Sep 7;57:1521-5.
4	Autoimmune disorders during interferon therapy in a patient with chronic hepatitis C infection: how many of them can be observed in a single patient?.J Clin Gastroenterol. 2006 Apr;40(4):367-8. doi: 10.1097/01.mcg.0000210091.77296.b6.
5	N-acetylcysteine in preclinical mouse and baboon models of thrombotic thrombocytopenic purpura.Blood. 2017 Feb 23;129(8):1030-1038. doi: 10.1182/blood-2016-09-738856. Epub 2016 Dec 23.
6	Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin.Proc Natl Acad Sci U S A. 1990 Apr;87(8):3117-21. doi: 10.1073/pnas.87.8.3117.
7	The expression and concentration of CD40 ligand in normal pregnancy, preeclampsia, and hemolytic anemia, elevated liver enzymes and low platelet count (HELLP) syndrome.Blood Coagul Fibrinolysis. 2013 Jan;24(1):71-5. doi: 10.1097/MBC.0b013e32835a8aca.
8	The role of complement inhibitors beyond controlling inflammation.J Intern Med. 2017 Aug;282(2):116-128. doi: 10.1111/joim.12606. Epub 2017 Mar 26.
9	The pleiotropic effects of erythropoietin in infection and inflammation.Microbes Infect. 2012 Mar;14(3):238-46. doi: 10.1016/j.micinf.2011.10.005. Epub 2011 Nov 4.
10	An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo.Malar J. 2019 Feb 28;18(1):57. doi: 10.1186/s12936-019-2688-z.
11	Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.Indian J Pediatr. 2019 Aug;86(8):692-699. doi: 10.1007/s12098-019-02928-1. Epub 2019 Apr 27.
12	Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.Nat Genet. 1996 Nov;14(3):361-5. doi: 10.1038/ng1196-361.
13	Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia.Am J Hematol. 1994 Nov;47(3):198-202. doi: 10.1002/ajh.2830470310.
14	Co-inherited -thalassemia trait and HbH disease: clinical characteristics and interference in diagnosis of thalassemia by high-performance liquid chromatography.Int J Lab Hematol. 2012 Aug;34(4):427-31. doi: 10.1111/j.1751-553X.2012.01415.x. Epub 2012 Mar 20.
15	Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency.J Clin Invest. 1999 Jan;103(1):129-35. doi: 10.1172/JCI4165.
16	Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.Am J Physiol Cell Physiol. 2012 Jan 15;302(2):C419-28. doi: 10.1152/ajpcell.00092.2011. Epub 2011 Oct 19.
17	Role of CD47 as a marker of self on red blood cells.Science. 2000 Jun 16;288(5473):2051-4. doi: 10.1126/science.288.5473.2051.
18	GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438.
19	Gallstone disease in Swedish twins is associated with the Gilbert variant of UGT1A1.Liver Int. 2013 Jul;33(6):904-8. doi: 10.1111/liv.12141. Epub 2013 Mar 20.
20	Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.Hum Mutat. 2018 Mar;39(3):389-393. doi: 10.1002/humu.23392. Epub 2018 Jan 11.
21	dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.Eur J Haematol. 2012 Apr;88(4):350-5. doi: 10.1111/j.1600-0609.2011.01739.x. Epub 2012 Jan 4.
22	Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.Haematologica. 2007 Nov;92(11):e102-5. doi: 10.3324/haematol.11238.
23	A toxicogenomic approach revealed hepatic gene expression changes mechanistically linked to drug-induced hemolytic anemia.Toxicol Sci. 2007 Feb;95(2):474-84. doi: 10.1093/toxsci/kfl152. Epub 2006 Nov 2.
24	Examination of Hydroxychloroquine Use and Hemolytic Anemia in G6PDH-Deficient Patients.Arthritis Care Res (Hoboken). 2018 Mar;70(3):481-485. doi: 10.1002/acr.23296. Epub 2018 Feb 9.
25	PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.Int J Hematol. 2016 Jul;104(1):125-9. doi: 10.1007/s12185-016-1970-x. Epub 2016 Mar 14.
26	Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2257-2266. doi: 10.1016/j.bbadis.2019.05.002. Epub 2019 May 7.
27	Cancer-related anemia in a rat model: alpha2-macroglobulin from Yoshida sarcoma shortens erythrocyte survival.Eur J Haematol. 2002 Jan;68(1):42-8. doi: 10.1034/j.1600-0609.2002.00543.x.
28	Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.Pediatr Neonatol. 2016 Dec;57(6):522-525. doi: 10.1016/j.pedneo.2014.04.001. Epub 2014 May 23.
29	A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.Pediatr Blood Cancer. 2014 Aug;61(8):1457-9. doi: 10.1002/pbc.24934. Epub 2014 Jan 16.
30	Combined deletion of mouse dematin-headpiece and beta-adducin exerts a novel effect on the spectrin-actin junctions leading to erythrocyte fragility and hemolytic anemia.J Biol Chem. 2007 Feb 9;282(6):4124-35. doi: 10.1074/jbc.M610231200. Epub 2006 Dec 2.
31	High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms.Am J Clin Nutr. 2002 Apr;75(4):616-58. doi: 10.1093/ajcn/75.4.616.
32	A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov.
33	Clinical features and therapeutic response in Taiwanese children with Wilson's disease: 12 years of experience in a single center.Pediatr Neonatol. 2010 Apr;51(2):124-9. doi: 10.1016/S1875-9572(10)60022-8.
34	Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.Biochem J. 2004 May 15;380(Pt 1):51-6. doi: 10.1042/BJ20031941.
35	Orthopaedic Manifestations of Sickle Cell Disease.J Am Acad Orthop Surg. 2018 Feb 1;26(3):94-101. doi: 10.5435/JAAOS-D-16-00255.
36	Intestinal hephaestin potentiates iron absorption in weanling, adult, and pregnant mice under physiological conditions.Blood Adv. 2017 Jul 25;1(17):1335-1346. doi: 10.1182/bloodadvances.2017008359. eCollection 2017 Jul 25.
37	Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.Eur J Haematol. 2018 Oct;101(4):566-569. doi: 10.1111/ejh.13135. Epub 2018 Aug 31.
38	Stimulation of Phospholipid Scrambling of the Erythrocyte Membrane by 9-Cis-Retinoic Acid.Cell Physiol Biochem. 2017;41(2):543-554. doi: 10.1159/000457014. Epub 2017 Jan 31.
39	Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.Blood Cells Mol Dis. 2008 May-Jun;40(3):295-301. doi: 10.1016/j.bcmd.2007.10.005.
40	Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction.Parkinsonism Relat Disord. 2019 Jul;64:319-323. doi: 10.1016/j.parkreldis.2019.04.004. Epub 2019 Apr 5.
41	Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.PLoS One. 2018 Dec 6;13(12):e0208316. doi: 10.1371/journal.pone.0208316. eCollection 2018.
42	Chromatin remodeling gene SMARCA5 is dysregulated in primitive hematopoietic cells of acute leukemia.Leukemia. 2000 Jul;14(7):1247-52. doi: 10.1038/sj.leu.2401807.
43	An insulator with barrier-element activity promotes alpha-spectrin gene expression in erythroid cells.Blood. 2009 Feb 12;113(7):1547-54. doi: 10.1182/blood-2008-06-164954. Epub 2008 Nov 13.
44	Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.J Clin Invest. 1997 Jan 15;99(2):267-77. doi: 10.1172/JCI119155.
45	The mouse KLF1 Nan variant impairs nuclear condensation and erythroid maturation.PLoS One. 2019 Mar 28;14(3):e0208659. doi: 10.1371/journal.pone.0208659. eCollection 2019.