A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen

Poole, Joyce; Warke, Nicole; Hustinx, Hein; Taleghani, Behrouz Mansouri; Martin, Peter; Finning, Kirstin; Crew, Vanja Karamatic; Green, Carole; Bromilow, Imelda; Daniels, Geoff (2006). A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen. Transfusion, 46(11), pp. 1879-85. Malden, Mass.: Wiley-Blackwell 10.1111/j.1537-2995.2006.00933.x

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BACKGROUND: The KEL2/KEL1 (k/K) blood group polymorphism represents 578C>T in the KEL gene and Thr193Met in the Kell glycoprotein. Anti-KEL1 can cause severe hemolytic disease of the fetus and newborn. Molecular genotyping for KEL*1 is routinely used for assessing whether a fetus is at risk. Red blood cells (RBCs) from a KEL:1 blood donor (D1) were found to have abnormal KEL1 expression during evaluation of anti-KEL1 reagents. STUDY DESIGN AND METHODS: Kell genotyping methods, including KEL exon 6 direct sequencing, were applied. KEL cDNA from D1 was sequenced. Flow cytometry was used to assess KEL1 and KEL2 RBC expression. RESULTS: RBCs from the donor, her mother, and an unrelated donor gave weak or negative reactions with some anti-KEL1 reagents. Other Kell-system antigens appeared normal. The three individuals were homozygous for KEL C578 (KEL*2) but heterozygous for a 577A>T transversion, encoding Ser193. They appeared to be KEL*2 homozygotes by routine genotyping methods. Flow cytometry revealed weak KEL1 expression and normal KEL2, similar to that of KEL*2 homozygotes. CONCLUSION: Ser193 in the Kell glycoprotein appears to result in expression of abnormal KEL1, in addition to KEL2. The mutation is not detected by routine Kell genotyping methods and, because of unpredicted KEL1 expression, could lead to a misdiagnosis.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Mansouri Taleghani, Behrouz

ISSN:

0041-1132

ISBN:

17076841

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:50

Last Modified:

17 Mar 2015 21:53

Publisher DOI:

10.1111/j.1537-2995.2006.00933.x

PubMed ID:

17076841

Web of Science ID:

000240147000014

URI:

https://boris.unibe.ch/id/eprint/21188 (FactScience: 5165)

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