Transfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and Km

Bansal, Ila; Jeon, Hyeshin; Hui, Sheng; Calhoun, Beverly W.; Manning, Declan; Kelly, Thomas J.; Lee, S.; Baron, Bessie

doi:10.1111/j.1423-0410.2007.01021.x

Cited by 15 publications

(13 citation statements)

References 20 publications

(29 reference statements)

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“…In all ethnicities, the frequency of Kx is more than 99.9% defining the only known public antigen of XK and marking Kx-individuals as sought-after, rare blood donors. [10][11][12] In the RBC membrane, XK exists as heterodimer together with the membrane Kell protein explaining the weakened expression of all Kell antigens in Kx-deficient individuals. [13][14][15] Today, the pathophysiologic link between Kx negativity and the onset of MLS is still unclear 1 although Rivera and colleagues 16 showed that deficiency of XK and XK/Kell proteins led to altered transmembrane transport of divalent cations.…”

Section: Resultsmentioning

confidence: 99%

“…Kx is expressed on the 444‐amino‐acid multipass transmembrane RBC XK protein constituting the International Society of Blood Transfusion (ISBT) 019 blood group system. In all ethnicities, the frequency of Kx is more than 99.9% defining the only known public antigen of XK and marking Kx– individuals as sought‐after, rare blood donors . In the RBC membrane, XK exists as heterodimer together with the membrane Kell protein explaining the weakened expression of all Kell antigens in Kx‐deficient individuals .…”

Section: Currently Reported Large Genomic Deletions Involving Xk On Xmentioning

confidence: 99%

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Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome

et al. 2017

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BACKGROUND McLeod syndrome (MLS) is hematologically defined by the absence of the red blood cell (RBC) antigen Kx on the transmembrane RBC protein, XK, representing a highly specific diagnostic marker. Direct molecular assessment of XK therefore represents a desirable diagnostic tool. Whereas pathogenic point mutations may be simply identified, partial and complete deletions of XK on Xp21.1, eventually covering adjacent genes and causing multifaceted “continuous gene syndromes,” are difficult to localize. STUDY DESIGN AND METHODS Three different McLeod patient samples were tested using 16 initial positional polymerase chain reaction (PCR) procedures distributed over an approximately 2.8‐Mbp Xp‐chromosomal region, ranging telomeric from MAGEB16 to OTC, centromeric of XK. The molecular breakpoint of one sample with an apparent large Xp deletion was iteratively narrowed down by stepwise positioning further PCR procedures and sequenced. Two mutant XK genes, one previously published and serving as a positive control, were also sequenced. RESULTS We confirmed the positive control as previously published and listed as XK*N.20 by the International Society of Blood Transfusion (ISBT). The other XK showed a novel four‐nucleotide deletion in Exon 1, 195‐198delCCGC (newly listed as XK*N.39 by the ISBT). The third sample had an approximately 151‐kbp X‐chromosomal deletion, reaching from Exon 2 of LANCL3, across XK to Exon 3 of CYBB (newly listed as XK*N.01.016 by the ISBT). Carrier status of the patients' sister was diagnosed using a diagnostic “gap‐PCR.” CONCLUSIONS The stepwise partitioning of Xp21.1 is pragmatic and cost‐efficient in comparison to other diagnostic techniques such as “massive parallel sequencing” given the rarity of MLS. All males with suspected MLS should be considered for molecular XK profiling.

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Section: Resultsmentioning

confidence: 99%

Section: Currently Reported Large Genomic Deletions Involving Xk On Xmentioning

confidence: 99%

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome

et al. 2017

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“…Also, the recognition of private blood type (Kx-) is crucial when it comes to transfusion support. By timely searching for Kx-blood donors from international donor registries or alternatively, by use of cryopreserved autologous blood units the formation of anti-public antibodies can be prevented 23 .…”

Section: Clinically Guided Mls Diagnosismentioning

confidence: 99%

Neurodegeneration in the elderly – When the blood type matters: An overview of the McLeod syndrome with focus on hematological features

Frey

Gassner

Jung

2015

Transfusion and Apheresis Science

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Multisystem deterioration occurs mainly in older individuals and may be related to physiological tissue degeneration. However, genetic predisposition may be unmasked by inappropriate functional and structural system deficiencies. McLeod syndrome (MLS) is a rare, multisystem disease which is X-chromosomal inherited and belongs to the neuroacanthocytosis syndromes (NAS). The main clinical manifestations contain progressive neuro-psychiatric and cognitive deterioration, choreatic movement disorder, as well as myopathy, sensory motor axonal neuropathy and cardiomyopathy. In addition, MLS patients have red blood cell abnormalities including immune-hematological, morphological and functional impairments of red blood cells. In large deletions, contiguous gene syndrome may arise, including Duchenne muscular dystrophia, cellular immunodeficiency or retinitis pigmentosa. Hematological abnormalities such as blood group abnormalities in Kell-and XK blood group system, formation of anti-public red blood cell alloantibodies, acanthocytosis and elevated creatinine phosphokinase may precede clinical disease manifestation for decades and provide tools for early diagnosis. Patients with unexplained neuro-muscular deterioration and/or neuro-psychological pathologies accompanied with hematological abnormalities should be investigated for MLS.

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“…3,4 Transfusions hence require donations from donors with the McLeod phenotype, which, however, are extremely rare. 5 …”

mentioning

confidence: 99%

Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens

Hönig

Schwarz

et al. 2009

Bone Marrow Transplant

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Transfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and Km

Abstract: 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.

Cited by 15 publications

References 20 publications

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome

Neurodegeneration in the elderly – When the blood type matters: An overview of the McLeod syndrome with focus on hematological features

Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens

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