Predicting 22q11.2 deletion syndrome: A novel method using the routine full blood count

Naqvi, Nitha; Davidson, S. J.; Wong, Deborah H; Cullinan, Paul; Roughton, Michael; Doughty, Victoria L; Franklin, Rodney C. G.; Daubeney, Piers E.F.

doi:10.1016/j.ijcard.2010.02.027

Cited by 13 publications

(15 citation statements)

References 16 publications

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“…Neither the pre- nor post-operative hematocrits of patients with 22q11.2 DS differed significantly from those of control patients. Patients with 22q11.2 DS had significantly larger platelets (MPV of 10.4 vs. 7.5 fL, respectively) and a significantly lower platelet count prior to surgery relative to control patients (235 vs. 305 × 10 3 platelets/μL, respectively), as has been previously reported (24–27). In the post-operative period, platelet counts decreased significantly relative to pre-operative values for both cases and controls, and the lower platelet counts observed prior to surgery in patients with 22q11.2 DS relative to controls persisted through post-operative day 1.…”

Section: Resultssupporting

confidence: 81%

“…Failure of platelets to express functional GPIb-V-IX causes Bernard Soulier Syndrome (BSS), a severe autosomal recessive bleeding disorder characterized by large platelets and decreased platelet counts (macrothrombocytopenia), and severely impaired adhesion of platelets to damaged blood vessels (23). Patients with 22q11.2 DS have been described as “Bernard Soulier-like” in that they have an increased prevalence of macrothrombocytopenia (24–27), decreased levels of platelet surface expression of GPIb-V-IX and/or decreased levels of total platelet GPIbβ (25,28), and platelet function defects (25,28). In addition, patients with 22q11.2 DS have symptoms consistent with a mild hemostatic disorder such as easy bruising, epistaxis and menorrhagia (28,29).…”

Section: Introductionmentioning

confidence: 99%

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Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery

et al. 2015

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Background Post-surgical bleeding causes significant morbidity and mortality in children undergoing surgery for congenital heart defects (CHD). 22q11.2 deletion syndrome (DS) is the second most common genetic risk factor for CHD. The deleted segment of chromosome 22q11.2 encompasses the gene encoding glycoprotein (GP) Ibβ, which is required for expression of the GPIb-V-IX complex on the platelet surface, where it functions as the receptor for von Willebrand factor (VWF). Binding of GPIb-V-IX to VWF is important for platelets to initiate hemostasis. It is not known whether hemizygosity for the gene encoding GPIbβ increases the risk for bleeding following cardiac surgery for patients with 22q11.2 DS. Methods We performed a case-control study of 91 pediatric patients who underwent cardiac surgery with cardiopulmonary bypass from 2004–2012 at Children’s Hospital of Wisconsin. Results Patients with 22q11.2 DS had larger platelets and lower platelet counts, bled more excessively and received more transfusion support with packed red blood cells in the early post-operative period relative to control patients. Conclusions Pre-surgical genetic testing for 22q11.2 DS may help to identify a subset of pediatric cardiac surgery patients who are at increased risk for excessive bleeding and who may require more transfusion support in the post-operative period.

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Section: Resultssupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery

et al. 2015

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“…It is noticed that high MPV cannot be related to congenital heart defect, since, patients with 22q11 DS but without cardiac defects were also found to have high MPV . In concordance with our study, Naqvi et al and Liang et al also reported high mean of MPV values (10.6 and 10.9 fL) in cases with 22q11 deletion when compared with those without deletion . Although the work by Gokturk et al, showed slightly low MPV of 9.95 ± 0.46 as compared to our finding of 10.5 ± 2.5 fL.…”

Section: Discussionsupporting

confidence: 91%

“…Few other studies also shows that mean platelet volume, an indicator of platelet function detected by simple routine blood test, can be a useful predictor of 22q11 deletion . However, it is seen that this marker is highly variable and dependent on a number of confounding factors, which are practically difficult to correct.…”

Section: Discussionmentioning

confidence: 99%

Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects

Anilkumar

Vasudevan

Kappanayil

et al. 2018

Congenital Heart Disease

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“…Only 25% of the patients with 22q11DS in our study had both large platelets and low platelet counts, suggesting that macrothrombocytopenia may not be as representative a feature of the wide spectrum of 22q11DS as has been previously supposed . This supposition is based, in part, on case reports, all of which described patients with large platelets (when platelet size was reported) and platelet counts that dropped below normal on at least one occasion (Table S4).…”

Section: Discussionmentioning

confidence: 46%

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome

Zwifelhofer

Bercovitz

Weik

et al. 2019

Journal of Thrombosis and Haemostasis

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How thrombocytopenia relates to bleeding in 22q11 deletion syndrome (22q11DS) is not clear. Bleeding severity, platelet count and volume, and GPIBB were examined in patients with 22q11DS. Macrothrombocytopenia and bleeding typified imperfectly overlapping subsets of 22q11DS patients. GPIBB hemizygosity does not cause macrothrombocytopenia or bleeding in patients with 22q11DS. Summary Background and objectivesMacrothrombocytopenia and bleeding are frequently associated with 22q11 deletion syndrome (22q11DS). GPIBB, which encodes the glycoprotein (GP) Ibβ subunit of GPIb–IX–V, is commonly deleted in patients with 22q11DS. Absence of functional GPIb–IX–V causes Bernard–Soulier syndrome, which is a severe bleeding disorder characterized by macrothrombocytopenia. Patients with 22q11DS are often obligate hemizygotes for GPIBB, and those with only a pathogenically disrupted copy of GPIBB present with Bernard–Soulier syndrome. The objective of this study was to determine how GPIBB hemizygosity and sequence variation relate to macrothrombocytopenia and bleeding in patients with 22q11DS who do not have Bernard‐Soulier syndrome. Patients/methodsWe thoroughly characterized bleeding severity, mean platelet volume, platelet count and GPIBB copy number and sequence in patients with 22q11DS. Results and conclusionsMacrothrombocytopenia and mild bleeding were observed in incompletely overlapping subsets of patients, and GPIBB copy number and sequence variation did not correlate with either macrothrombocytopenia or bleeding in patients with 22q11DS. These findings indicate that GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in these patients. Alternative genetic causes of macrothrombocytopenia, potential causes of acquired thrombocytopenia and bleeding and ways in which platelet size, platelet count and GPIBB sequence information can be used to aid in the diagnosis and management of patients with 22q11DS are discussed.

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Predicting 22q11.2 deletion syndrome: A novel method using the routine full blood count

Cited by 13 publications

References 16 publications

Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery

Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery

Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome

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