General Information of Disease (ID: DIS5YNZB)

Disease Name Sickle-cell anaemia
Synonyms
Haemoglobin S disease; Hemoglobin S disease; HbS disease; drepanocytosis; Hb-S/Hb-C disease; Sickle Cell Disease; haemoglobin SC disease; Hemoglobin S disease without crisis; sickle cell anemia; sickle cell disease; sickling disorder due to Hemoglobin S; Hb SC disease; sickling disorder due to Haemoglobin S; hemoglobin SC disease; Haemoglobin S disease without crisis; sickle-cell/Hb-C disease without crisis; Hb-SS disease without crisis
Disease Class 3A51: Sickle-cell disorder
Definition
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISGK35P: Inherited hemoglobinopathy
DIS5YNZB: Sickle-cell anaemia
ICD Code
ICD-11
ICD-11: 3A51
ICD-10
ICD-10: D57.1
Expand ICD-11
'3A51.1
Expand ICD-10
'D57.1
Expand ICD-9
2.80E+17
Disease Identifiers
MONDO ID
MONDO_0011382
MESH ID
D000755
UMLS CUI
C0002895
OMIM ID
603903
MedGen ID
287
Orphanet ID
232
SNOMED CT ID
127040003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Cetiedil DMSQOHN Approved Small molecular drug [1]
Hydroxyurea DMOQVU9 Approved Small molecular drug [2]
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This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
NiCord DMTSURO Phase 3 NA [3]
MP-4-CO DM486HL Phase 2 NA [4]
TRF-1101 DM7ZT42 Phase 2 NA [5]
CSL200 DMCJXUD Phase 1 Gene therapy [6]
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This Disease is Treated as An Indication in 1 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
ANGX-3227 DMIEO4B Discontinued in Phase 2 NA [7]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 63 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACKR1 TTKY2NS Limited Biomarker [8]
ADORA2B TTNE7KG Limited Biomarker [9]
AVPR1A TT4TFGN Limited Genetic Variation [10]
CAD TT2YT1K Limited Biomarker [11]
CD1A TTBGTFN Limited Altered Expression [12]
CDA TTQ12RK Limited Biomarker [13]
CHIT1 TTDYX6T Limited Altered Expression [14]
CHM TTOA18V Limited Biomarker [15]
CLCN7 TTST1AJ Limited Biomarker [16]
CTSC TT4H0V2 Limited Biomarker [17]
DHODH TTLVP78 Limited Biomarker [11]
DLL3 TT1C9K6 Limited Biomarker [18]
DRD3 TT4C8EA Limited Genetic Variation [19]
FDPS TTIKWV4 Limited Biomarker [20]
FES TTLBY21 Limited Biomarker [20]
HEXA TTJI5JW Limited Genetic Variation [21]
HMOX1 TTI6V2A Limited Genetic Variation [22]
KCNN4 TT7M9I6 Limited Biomarker [23]
LCAT TTGZ91P Limited Altered Expression [24]
LIPG TTHSZXO Limited Biomarker [25]
LTB TTHQ6US Limited Altered Expression [26]
MFGE8 TT1GLAJ Limited Biomarker [27]
MYH2 TTBIL13 Limited Biomarker [28]
NPPB TTY63XT Limited Biomarker [29]
OAT TTTSCQ2 Limited Genetic Variation [30]
P2RY6 TTNVSKA Limited Biomarker [31]
RYR1 TTU5CIX Limited Genetic Variation [32]
SCN2A TTLJTUF Limited Genetic Variation [33]
SERPIND1 TT8XSKJ Limited Altered Expression [34]
SLC14A1 TTWVJU1 Limited Genetic Variation [35]
SLCO1A2 TTUGD21 Limited Biomarker [36]
SPTBN1 TTS9BDA Limited Biomarker [37]
TIE1 TTT4236 Limited Biomarker [38]
TRPA1 TTELV3W Limited Genetic Variation [39]
UMPS TTAFJUD Limited Biomarker [11]
ADRA1D TT34BHT Strong Genetic Variation [40]
APOL1 TTDB8PW Strong Genetic Variation [41]
ATP2A2 TTE6THL Strong Genetic Variation [40]
CACNA1C TTZIFHC Strong Biomarker [42]
CD34 TTZAVYN Strong Biomarker [43]
F2 TT6L509 Strong Genetic Variation [44]
F3 TT38MDJ Strong Altered Expression [45]
G6PD TTKN8W0 Strong Biomarker [46]
HAMP TTRV5YJ Strong Biomarker [47]
HBA2 TTQO71U Strong Genetic Variation [48]
HBB TTM6HK1 Strong Autosomal recessive [49]
HP TTLC8E1 Strong Biomarker [50]
MBL2 TTMQDZ5 Strong Altered Expression [51]
NFE2L2 TTA6ZN2 Strong Biomarker [38]
PDE5A TTJ0IQB Strong Altered Expression [52]
PGF TT48I1Y Strong Biomarker [53]
RHD TTLCKI8 Strong Genetic Variation [54]
SCD TT6RIOV Strong Biomarker [55]
SELE TT1PL7M Strong Altered Expression [56]
SELP TTE5VG0 Strong Altered Expression [57]
SLC12A4 TTJ8C67 Strong Biomarker [58]
UGT1A1 TT34ZAF Strong Genetic Variation [59]
VCAM1 TTHCEF6 Strong Altered Expression [38]
VWF TT3SZBT Strong Biomarker [60]
ADAMTS13 TTUREBK Definitive Altered Expression [61]
CAPN1 TT1WBIJ Definitive Biomarker [62]
GCH1 TTLSWP6 Definitive Genetic Variation [63]
MBTPS1 TTNSM2I Definitive Altered Expression [64]
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⏷ Show the Full List of 63 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC35A2 DT0567K Limited Genetic Variation [65]
ABCC6 DT582KR Strong Biomarker [66]
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This Disease Is Related to 14 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ABO DESIA7R Limited Biomarker [67]
ACP5 DESITDW Limited Biomarker [68]
ALAS2 DE437BY Limited Genetic Variation [69]
CYB5R3 DE4A3BL Limited Biomarker [70]
PON3 DETXQZ1 Limited Genetic Variation [71]
UGT2B7 DEB3CV1 Limited Genetic Variation [72]
UGT1A10 DEL5N6Y Strong Genetic Variation [73]
UGT1A3 DEF2WXN Strong Genetic Variation [73]
UGT1A4 DELOY3P Strong Genetic Variation [73]
UGT1A5 DEPF954 Strong Genetic Variation [73]
UGT1A6 DESD26P Strong Genetic Variation [73]
UGT1A7 DEZO4N3 Strong Genetic Variation [73]
UGT1A8 DE2GB8N Strong Genetic Variation [73]
UGT1A9 DE85D2P Strong Genetic Variation [73]
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⏷ Show the Full List of 14 DME(s)
This Disease Is Related to 76 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADCY9 OT1IZT5K Limited Genetic Variation [74]
AKAP1 OTIIB2JB Limited Biomarker [75]
APOA5 OTEVKLVA Limited Genetic Variation [76]
ATP2B4 OTMWFDAC Limited Biomarker [77]
BEAN1 OT0WLH27 Limited Biomarker [78]
BRAP OTB7BAFQ Limited Biomarker [79]
CBX3 OTOP9RLD Limited Altered Expression [80]
CD1B OT4D5EG7 Limited Altered Expression [12]
CD1C OT4XINUJ Limited Altered Expression [12]
CDH23 OTOJGQ7S Limited Genetic Variation [81]
CEBPZ OT11BATG Limited Biomarker [82]
CLDN15 OT9K0KI7 Limited Altered Expression [83]
CLDN3 OT71MN9S Limited Altered Expression [83]
CPLANE1 OTXGGNNB Limited Biomarker [84]
CPVL OTOJL31C Limited Biomarker [85]
DMRT2 OTA39QNR Limited Genetic Variation [86]
FUCA2 OTY5NVMJ Limited Genetic Variation [87]
FUT1 OTODG57A Limited Genetic Variation [88]
GALNT13 OT650121 Limited Biomarker [9]
GTF2I OTUYL1TQ Limited Biomarker [89]
GZMM OTEC5CWT Limited Biomarker [86]
HOPX OTBSR6C9 Limited Biomarker [16]
IMPA1 OTBUVW1Z Limited Biomarker [79]
INSIG1 OTZF5X1D Limited Genetic Variation [90]
KLF1 OT1FK08U Limited Genetic Variation [91]
KLF10 OT4F4UGS Limited Genetic Variation [92]
KLRC3 OT9EPHV3 Limited Genetic Variation [93]
KRT12 OTFOWNH2 Limited Biomarker [94]
LFNG OTPSUBN2 Limited Genetic Variation [95]
LPCAT1 OTCV7AGV Limited Biomarker [96]
LPCAT3 OTWI96P4 Limited Biomarker [96]
LRSAM1 OTOKWR6C Limited Biomarker [97]
MAP6 OTPUI00F Limited Genetic Variation [98]
MESP2 OT7H4LYA Limited Biomarker [99]
MIPEP OTB2IHCT Limited Genetic Variation [100]
MPIG6B OTVNKQWA Limited Genetic Variation [101]
NANOS1 OT3UNZZY Limited Biomarker [102]
OXCT1 OT536PE7 Limited Genetic Variation [103]
PIEZO1 OTBG1FU4 Limited Biomarker [104]
PROZ OTI3TXBE Limited Genetic Variation [105]
PRRX2 OT8UR4AU Limited Biomarker [106]
PSMA7 OTPHI6ST Limited Biomarker [43]
RIPPLY2 OTDEEDLH Limited Biomarker [86]
RSPH1 OT3MR73R Limited Biomarker [107]
SKA2 OTVYF4XT Limited Altered Expression [108]
SPIN1 OT69VAOX Limited Biomarker [89]
SPRR2A OT62ZU6B Limited Genetic Variation [109]
SPTA1 OT1YMP65 Limited Biomarker [110]
TALDO1 OTDKV2S2 Limited Biomarker [97]
TBX6 OTW1Q8RM Limited Biomarker [111]
TK2 OTS1V4XB Limited Biomarker [78]
ARAP1 OTINOJJ7 Strong Genetic Variation [112]
BCAM OTHZOPSD Strong Biomarker [113]
GABPA OT9YB2SA Strong Biomarker [38]
HBA1 OTW2BQF4 Strong Genetic Variation [48]
HBB OT514IKQ Strong Autosomal recessive [49]
HBE1 OTJPKMX4 Strong Genetic Variation [114]
HPX OT14T7Q1 Strong Biomarker [115]
ICAM4 OT1BI27E Strong Biomarker [116]
MCC OTQVI1EM Strong Genetic Variation [117]
MUC4 OTLT11V1 Strong Genetic Variation [77]
NPRL3 OTS4HE8E Strong Genetic Variation [114]
OR51B5 OTQ1MHRJ Strong Genetic Variation [114]
OR51I2 OTGMVBPC Strong Genetic Variation [114]
RABEP1 OTQROTGT Strong Genetic Variation [77]
RAPGEF5 OT53VS75 Strong Biomarker [118]
RHCE OTS18IZ5 Strong Genetic Variation [54]
SAR1A OTSSRVGV Strong Biomarker [119]
SORCS2 OTBF3DYK Strong Genetic Variation [77]
ADCY6 OTFOY4WW Definitive Genetic Variation [120]
ANTXR1 OT5W1GPC Definitive Genetic Variation [121]
HBD OTRQG4WA Definitive Altered Expression [122]
HES7 OT6F9R7P Definitive Genetic Variation [123]
MYH9 OT94Z706 Definitive Genetic Variation [124]
PPBP OT1FHGQS Definitive Biomarker [125]
SCD5 OTSSUQ3Z Definitive Genetic Variation [126]
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⏷ Show the Full List of 76 DOT(s)

References

1 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
2 Hydroxyurea FDA Label
3 ClinicalTrials.gov (NCT01590628) Pilot Study Evaluating Safety & Efficacy of a DCBT: NiCord & UNM CBU to SCD Patients After Myeloablative Therapy. U.S. National Institutes of Health.
4 ClinicalTrials.gov (NCT01925001) Phase 2 Study of MP4CO to Treat Vaso-occlusive Sickle Crisis. U.S. National Institutes of Health.
5 ClinicalTrials.gov (NCT00773890) TRF-1101 Assessment in Sickle Cell Disease. U.S. National Institutes of Health.
6 ClinicalTrials.gov (NCT04091737) A Phase 1 Pilot Study to Evaluate the Safety and Feasibility of Gene Therapy With CSL200 (Autologous Enriched CD34+ Cell Fraction That Contains CD34+ Cells Transduced With Lentiviral Vector Encoding Human gamma-GlobinG16D and Short-Hairpin RNA734) in Adult Subjects With Severe Sickle Cell Disease. U.S.National Institutes of Health.
7 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800021062)
8 Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease.Transfusion. 2008 May;48(5):917-24. doi: 10.1111/j.1537-2995.2007.01622.x. Epub 2008 Feb 1.
9 A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease.Am J Respir Crit Care Med. 2012 Aug 15;186(4):359-68. doi: 10.1164/rccm.201201-0057OC. Epub 2012 Jun 7.
10 Vasopressin SNP pain factors and stress in sickle cell disease.PLoS One. 2019 Nov 11;14(11):e0224886. doi: 10.1371/journal.pone.0224886. eCollection 2019.
11 Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents.Br J Haematol. 1979 Jul;42(3):381-90. doi: 10.1111/j.1365-2141.1979.tb01146.x.
12 Upregulation and atypical expression of the CD1 molecules on monocytes in sickle cell disease.Hum Immunol. 2004 Nov;65(11):1370-6. doi: 10.1016/j.humimm.2004.09.009.
13 MIR29B mediates epigenetic mechanisms of HBG gene activation.Br J Haematol. 2019 Jul;186(1):91-100. doi: 10.1111/bjh.15870. Epub 2019 Mar 19.
14 Plasma chitotriosidase and carotid intima-media thickness in children with sickle cell disease.Int J Hematol. 2017 Nov;106(5):648-654. doi: 10.1007/s12185-017-2288-z. Epub 2017 Jul 4.
15 Hydroxyurea to lower transcranial Doppler velocities and prevent primary stroke: the Uganda NOHARM sickle cell anemia cohort.Haematologica. 2020 Jun;105(6):e272-e275. doi: 10.3324/haematol.2019.231407. Epub 2019 Oct 24.
16 Alloimmunization to transfused HOD red blood cells is not increased in mice with sickle cell disease.Transfusion. 2012 Feb;52(2):231-40. doi: 10.1111/j.1537-2995.2011.03255.x. Epub 2011 Jul 25.
17 Diagnosing sickle cell disease and iron deficiency anemia in human blood by Raman spectroscopy.Lasers Med Sci. 2020 Jul;35(5):1065-1074. doi: 10.1007/s10103-019-02887-1. Epub 2019 Oct 22.
18 Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.Hum Mol Genet. 2011 Mar 1;20(5):905-16. doi: 10.1093/hmg/ddq529. Epub 2010 Dec 7.
19 Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.Anesth Analg. 2014 Nov;119(5):1201-7. doi: 10.1213/ANE.0000000000000382.
20 Psychometric Properties of a Modified Version of the Faces Pain Scale-Revised (Modified FPS-R) to Evaluate Worst Pain in Children and Adolescents With Sickle Cell Anemia.J Pediatr Hematol Oncol. 2018 Oct;40(7):499-503. doi: 10.1097/MPH.0000000000001250.
21 Search-and-replace genome editing without double-strand breaks or donor DNA.Nature. 2019 Dec;576(7785):149-157. doi: 10.1038/s41586-019-1711-4. Epub 2019 Oct 21.
22 Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.Ann Hematol. 2019 Aug;98(8):1805-1812. doi: 10.1007/s00277-019-03697-9. Epub 2019 Apr 27.
23 Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease.Blood Cells Mol Dis. 2019 Nov;79:102346. doi: 10.1016/j.bcmd.2019.102346. Epub 2019 Jul 17.
24 Featured Article: Depletion of HDL(3) high density lipoprotein and altered functionality of HDL(2) in blood from sickle cell patients.Exp Biol Med (Maywood). 2017 Jun;242(12):1244-1253. doi: 10.1177/1535370217706966. Epub 2017 Apr 24.
25 The role of nitrite in muscle function, susceptibility to contraction injury, and fatigability in sickle cell mice.Nitric Oxide. 2018 Nov 1;80:70-81. doi: 10.1016/j.niox.2018.08.005. Epub 2018 Aug 14.
26 Eicosanoids in sickle cell disease: potential relevance of neutrophil leukotriene B4 to disease pathophysiology.J Lab Clin Med. 2002 Feb;139(2):80-9. doi: 10.1067/mlc.2002.121200.
27 The role of lactadherin in the phagocytosis of phosphatidylserine-expressing sickle red blood cells by macrophages.Haematologica. 2005 Sep;90(9):1267-8.
28 MYH9 E1841K Mutation Augments Proteinuria and Podocyte Injury and Migration.J Am Soc Nephrol. 2018 Jan;29(1):155-167. doi: 10.1681/ASN.2015060707. Epub 2017 Oct 9.
29 NT-proBNP as a marker of cardiopulmonary status in sickle cell anaemia in Africa.Br J Haematol. 2010 Jul;150(1):102-7. doi: 10.1111/j.1365-2141.2010.08195.x. Epub 2010 Apr 16.
30 Lymphocyte subpopulations in homozygous sickle cell anaemia.Acta Haematol. 1985;74(1):10-3. doi: 10.1159/000206155.
31 Sensitization of nociceptors by prostaglandin E(2)-glycerol contributes to hyperalgesia in mice with sickle cell disease.Blood. 2019 May 2;133(18):1989-1998. doi: 10.1182/blood-2018-11-884346. Epub 2019 Feb 22.
32 A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.Am J Med Genet A. 2004 Jan 30;124A(3):248-54. doi: 10.1002/ajmg.a.20404.
33 Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study.Eur J Haematol. 2014 Mar;92(3):237-43. doi: 10.1111/ejh.12226. Epub 2013 Nov 28.
34 Effect of a Congolese herbal medicine used in sickle cell anemia on the expression of plasminogen activators in human coronary aortic endothelial cells culture.J Ethnopharmacol. 2013 Mar 27;146(2):594-9. doi: 10.1016/j.jep.2013.01.031. Epub 2013 Jan 30.
35 Frequency of red blood cell genotypes in multi-transfused patients and blood donors from Minas Gerais, Southeast Brazil.Transfus Apher Sci. 2018 Feb;57(1):71-75. doi: 10.1016/j.transci.2017.12.002. Epub 2017 Dec 16.
36 Genetic link with cholelithiasis among pediatric SCA Tunisian patients: Examples of UGT1A1, SLCO1A2 and SLCO1B1.Hematology. 2016 Mar;21(2):121-5. doi: 10.1179/1607845415Y.0000000030. Epub 2015 Jul 6.
37 Interim assessment of liver damage in patients with sickle cell disease using new non-invasive techniques.Br J Haematol. 2017 Feb;176(4):643-650. doi: 10.1111/bjh.14462. Epub 2016 Dec 16.
38 Nrf2 activation in myeloid cells and endothelial cells differentially mitigates sickle cell disease pathology in mice.Blood Adv. 2019 Apr 23;3(8):1285-1297. doi: 10.1182/bloodadvances.2018017574.
39 Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease.Pharmacogenomics. 2018 Apr;19(5):401-411. doi: 10.2217/pgs-2017-0198. Epub 2018 Apr 5.
40 Diversity of RH and transfusion support in Brazilian sickle cell disease patients with unexplained Rh antibodies.Transfusion. 2019 Oct;59(10):3228-3235. doi: 10.1111/trf.15479. Epub 2019 Aug 13.
41 RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.PLoS One. 2019 Jun 3;14(6):e0217042. doi: 10.1371/journal.pone.0217042. eCollection 2019.
42 Emerging therapeutic targets in the short QT syndrome.Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621.
43 Bone marrow characterization in sickle cell disease: inflammation and stress erythropoiesis lead to suboptimal CD34 recovery.Br J Haematol. 2019 Jul;186(2):286-299. doi: 10.1111/bjh.15902. Epub 2019 Apr 10.
44 Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India.Eur J Haematol. 2013 Nov;91(5):462-6. doi: 10.1111/ejh.12190. Epub 2013 Sep 16.
45 Hypercoagulable state in sickle cell disease.Clin Hemorheol Microcirc. 2018;68(2-3):301-318. doi: 10.3233/CH-189013.
46 A positive correlation between sickle cell anemia and g6pd deficiency from population of Chhattisgarh, India.Gene. 2019 Jul 30;707:143-150. doi: 10.1016/j.gene.2019.04.080. Epub 2019 May 7.
47 Serum Hepcidin Concentration in Individuals with Sickle Cell Anemia: Basis for the Dietary Recommendation of Iron.Nutrients. 2018 Apr 17;10(4):498. doi: 10.3390/nu10040498.
48 Common -globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.
49 Sickle Cell Disease. 2003 Sep 15 [updated 2023 Dec 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
50 Haptoglobin and hemopexin inhibit vaso-occlusion and inflammation in murine sickle cell disease: Role of heme oxygenase-1 induction.PLoS One. 2018 Apr 25;13(4):e0196455. doi: 10.1371/journal.pone.0196455. eCollection 2018.
51 Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia.Genet Mol Biol. 2017 Jul-Sep;40(3):600-603. doi: 10.1590/1678-4685-GMB-2016-0161. Epub 2017 Aug 21.
52 Dysregulated NO/PDE5 signaling in the sickle cell mouse lower urinary tract: Reversal by oral nitrate therapy.Life Sci. 2019 Dec 1;238:116922. doi: 10.1016/j.lfs.2019.116922. Epub 2019 Oct 18.
53 Free heme regulates placenta growth factor through NRF2-antioxidant response signaling.Free Radic Biol Med. 2019 Nov 1;143:300-308. doi: 10.1016/j.freeradbiomed.2019.08.009. Epub 2019 Aug 10.
54 How do I incorporate red cell genotyping to improve chronic transfusion therapy?.Transfusion. 2020 Jan;60(1):16-25. doi: 10.1111/trf.15599. Epub 2019 Nov 23.
55 Diagnostics of DNA fragmentation in human spermatozoa: Are sperm chromatin structure analysis and sperm chromatin dispersion tests (SCD-HaloSpermG2() ) comparable?.Andrologia. 2019 Sep;51(8):e13316. doi: 10.1111/and.13316. Epub 2019 May 17.
56 Resolution of sickle cell disease-associated inflammation and tissue damage with 17R-resolvin D1.Blood. 2019 Jan 17;133(3):252-265. doi: 10.1182/blood-2018-07-865378. Epub 2018 Nov 7.
57 Mast Cells Induce Blood Brain Barrier Damage in SCD by Causing Endoplasmic Reticulum Stress in the Endothelium.Front Cell Neurosci. 2019 Feb 19;13:56. doi: 10.3389/fncel.2019.00056. eCollection 2019.
58 Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element. Blood. 2004 Jun 1;103(11):4302-9.
59 Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria.BMC Med Genet. 2019 Oct 16;20(1):160. doi: 10.1186/s12881-019-0899-3.
60 Aptamer Oligonucleotides as Potential Therapeutics in Hematologic Diseases.Mini Rev Med Chem. 2019;19(10):788-795. doi: 10.2174/1389557517666171002160526.
61 Evaluation of von Willebrand factor and ADAMTS-13 antigen and activity levels in sickle cell disease patients in Kuwait.J Thromb Thrombolysis. 2017 Jan;43(1):117-123. doi: 10.1007/s11239-016-1418-4.
62 Calpain-1 regulates platelet function in a humanized mouse model of sickle cell disease.Thromb Res. 2017 Dec;160:58-65. doi: 10.1016/j.thromres.2017.10.018. Epub 2017 Oct 26.
63 Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease.Exp Hematol. 2018 Oct;66:42-49. doi: 10.1016/j.exphem.2018.07.004. Epub 2018 Jul 19.
64 Sphingosine-1-phosphate receptor 1 mediates elevated IL-6 signaling to promote chronic inflammation and multitissue damage in sickle cell disease.FASEB J. 2018 May;32(5):2855-2865. doi: 10.1096/fj.201600788RR. Epub 2018 Jan 17.
65 Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease.Blood Cells Mol Dis. 2003 Jul-Aug;31(1):38-42. doi: 10.1016/s1079-9796(03)00118-9.
66 Classic pseudoxanthoma elasticum in a girl with sickle cell disease.Pediatr Dermatol. 2019 Jan;36(1):e64-e65. doi: 10.1111/pde.13712. Epub 2018 Dec 9.
67 Transfusion service knowledge and immunohaematological practices related to sickle cell disease and thalassemia.Transfus Med. 2019 Jun;29(3):185-192. doi: 10.1111/tme.12580. Epub 2019 Feb 10.
68 Tartrate-Resistant Acid Phosphatase 5b in Young Patients With Sickle Cell Disease and Trait Siblings: Relation to Vasculopathy and Bone Mineral Density.Clin Appl Thromb Hemost. 2017 Jan;23(1):64-71. doi: 10.1177/1076029615594001. Epub 2015 Jul 6.
69 Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.Blood Cells Mol Dis. 2005 May-Jun;34(3):226-8. doi: 10.1016/j.bcmd.2005.01.001.
70 Smooth muscle cytochrome b5 reductase 3 deficiency accelerates pulmonary hypertension development in sickle cell mice.Blood Adv. 2019 Dec 10;3(23):4104-4116. doi: 10.1182/bloodadvances.2019000621.
71 Paraoxonases (PON) 1, 2, and 3 Polymorphisms and PON-1 Activities in Patients with Sickle Cell Disease.Antioxidants (Basel). 2019 Jul 30;8(8):252. doi: 10.3390/antiox8080252.
72 UGT2B7 promoter variant -840G>A contributes to the variability in hepatic clearance of morphine in patients with sickle cell disease.Am J Hematol. 2008 Mar;83(3):200-2. doi: 10.1002/ajh.21051.
73 A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.PLoS One. 2012;7(4):e34741. doi: 10.1371/journal.pone.0034741. Epub 2012 Apr 27.
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81 CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?.Otol Neurotol. 2016 Dec;37(10):1583-1588. doi: 10.1097/MAO.0000000000001210.
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90 Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.PLoS Genet. 2019 Jul 19;15(7):e1008289. doi: 10.1371/journal.pgen.1008289. eCollection 2019 Jul.
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