Absence of Lutheran antigen on erythrocytes

MedGen UID:: 869197
•Concept ID:: C4023619
•: Anatomical Abnormality

HPO:	HP:0010971

Definition

Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsence of Lutheran antigen on erythrocytes

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Blood group antigen abnormality
      - Absence of Lutheran antigen on erythrocytes

Recent clinical studies

Etiology

Oxidative stress activates red cell adhesion to laminin in sickle cell disease.

Lizarralde-Iragorri MA, Lefevre SD, Cochet S, El Hoss S, Brousse V, Filipe A, Dussiot M, Azouzi S, Le Van Kim C, Rodrigues-Lima F, Français O, Le Pioufle B, Klei T, van Bruggen R, El Nemer W
Haematologica 2021 Sep 1;106(9):2478-2488. doi: 10.3324/haematol.2020.261586. PMID: 32855277 Free PMC Article

The functional importance of blood group-active molecules in human red blood cells.

Anstee DJ
Vox Sang 2011 Jan;100(1):140-9. doi: 10.1111/j.1423-0410.2010.01388.x. PMID: 21175664

Functional aspects of red cell antigens.

Daniels G
Blood Rev 1999 Mar;13(1):14-35. doi: 10.1016/s0268-960x(99)90020-6. PMID: 10225606

Erythrocyte antigens on human platelets. Absence of Rh, Duffy, Kell, Kidd, and Lutheran antigens.

Dunstan RA, Simpson MB, Rosse WF
Transfusion 1984 May-Jun;24(3):243-6. doi: 10.1046/j.1537-2995.1984.24384225031.x. PMID: 6427991

Human erythrocyte antigens. Regulation of expression of a novel erythrocyte surface antigen by the inhibitor Lutheran In(Lu) gene.

Telen MJ, Eisenbarth GS, Haynes BF
J Clin Invest 1983 Jun;71(6):1878-86. doi: 10.1172/jci110943. PMID: 6863545 Free PMC Article

See all (10)

Diagnosis

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

Ye L, Wang C, Li A, Li M, Pi Y, Yang J, Zhu Z, Lu D
BMC Genomics 2024 Mar 1;25(1):230. doi: 10.1186/s12864-024-10148-x. PMID: 38429690 Free PMC Article

Erythrocyte antigens on human platelets. Absence of Rh, Duffy, Kell, Kidd, and Lutheran antigens.

Dunstan RA, Simpson MB, Rosse WF
Transfusion 1984 May-Jun;24(3):243-6. doi: 10.1046/j.1537-2995.1984.24384225031.x. PMID: 6427991

See all (2)

Therapy

Modulation of erythroid adhesion receptor expression by hydroxyurea in children with sickle cell disease.

Odièvre MH, Bony V, Benkerrou M, Lapouméroulie C, Alberti C, Ducrocq R, Jacqz-Aigrain E, Elion J, Cartron JP
Haematologica 2008 Apr;93(4):502-10. Epub 2008 Mar 5 doi: 10.3324/haematol.12070. PMID: 18322255

See all (1)