Transfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and Km.
OBJECTIVE
Kell antigens are encoded by the KEL gene on the long arm of chromosome 7. Kx antigen is encoded by the XK gene on the short arm of the X chromosome. Kell and Kx proteins in the red cell membrane are covalently linked by a disulphide bond. The McLeod phenotype is characterized by weakened expression of antigens in the Kell blood group system, absence of Km and Kx antigens, and acanthocytosis. It has an X-linked mode of inheritance with transmission through carrier females. Some males with the McLeod syndrome also have chronic granulomatous disease (CGD). It is generally believed that patients with non-CGD McLeod may develop anti-Km but not anti-Kx, but that those with CGD McLeod can develop both anti-Km and anti-Kx.


METHODS
We present serological data, DNA genotyping and gene sequencing, monocyte monolayer assay and neutrophil oxidative burst test from a patient with the McLeod phenotype without clinical evidence of CGD.


RESULTS
We report here the second example of a patient with non-CGD McLeod who developed anti-Kx in addition to anti-Km. Sequencing of our patient's XK gene confirmed the presence of a mutation resulting in a premature stop codon and lack of Kx protein in the red cell membrane, which is consistent with the diagnosis of McLeod syndrome. Neutrophil oxidative burst test was normal, indicating that our patient did not have CGD. The challenge of providing 10 compatible blood units for multiple surgeries was met.


CONCLUSIONS
The second case of a rare entity, a patient with non-CGD McLeod who developed anti-Kx and anti-Km, was managed successfully with a combination of autologous donations and procurement of compatible units from national and international sources.
Bansal
I
I
Departments of Pathology (Blood Bank).
Jeon
H-R
HR
Departments of Pathology (Blood Bank).
Hui
S R
SR
Departments of Pathology (Blood Bank).
Calhoun
B W
BW
Departments of Pathology (Blood Bank).
Manning
D W
DW
Orthopedic Surgery and Rehabilitation Medicine, and.
Kelly
T J
TJ
Neurology, University of Chicago, Chicago, IL, USA.
Lee
S
S
New York Blood Center, New York, NY 10021, USA.
Baron
B W
BW
Departments of Pathology (Blood Bank).
D000368:Aged; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics / Q000276:immunology; D001789:Blood Group Antigens / Q000235:genetics; D001803:Blood Transfusion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D006402:Hematologic Diseases / Q000097:blood / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D006801:Humans; D007518:Isoantibodies / Q000097:blood*; D007626:Kell Blood-Group System / Q000235:genetics* / Q000276:immunology*; D008297:Male; D054546:Neuroacanthocytosis / Q000097:blood / Q000235:genetics / Q000276:immunology / Q000628:therapy; D010641:Phenotype; D013577:Syndrome
D026921:Amino Acid Transport Systems, Neutral; D001789:Blood Group Antigens; D007518:Isoantibodies; D007626:Kell Blood-Group System; C087883:XK protein, human