Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia

Gohda, Fumito; Uchiumi, Hideki; Handa, Hiroshi; Maekawa, Takafumi; Tsukamoto, Norifumi; Morita, Kimio; Amagai, H; Murakami, Masami; Murakami, Hirokazu; Nojima, Yoshihisa; Karasawa, Masamitsu

doi:10.1016/j.thromres.2006.06.011

Cited by 30 publications

(17 citation statements)

References 20 publications

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“…Such patients are often wrongly diagnosed as having autoimmune idiopathic thrombocytopenia. 5 Although in most cases the molecular defect remains unknown, a significant percentage of these patients have recently been recognized in Italy as being affected by the Bolzano Bernard-Soulier syndrome (BSS) variant, which is characterized by Ala156Val substitution in the GPIbα protein 6 near the anionic sulfated region of the last leucine-rich repeat (LRR). 7,8 Most of the causative mutations in BSS affect the GPIbα subunit of the platelet membrane glycoprotein Ib/IX/V complex, 9,10 so we performed sequencing analyses on the GPIbα gene in the affected members of two families who had previously been classified as CHMT.…”

Section: Introductionmentioning

confidence: 99%

Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Vettore¹,

Scandellari²,

Moro³

et al. 2008

Haematologica

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In Italy, a significant proportion of patients with autosomal dominant inheritance of macrothrombocytopenia have been recognized as having heterozygous Bernard-Soulier syndrome carrying the Bolzano-type defect. This condition prompted a systematic review of our outpatients with chronic isolated macrothrombocytopenia. We recognized that the affected members of two unrelated families represented a new variant of heterozygous Bernard-Soulier Syndrome with autosomal dominant inheritance. Sequencing analysis of the GPIbα gene revealed a novel heterozygous mutation, A169C, resulting in an N41H substitution in the protein. This aminoacid belongs to the first leucine-rich repeat of the chain. The molecular modeling suggests that the replacement of the N41 with a histidine (N41H) drastically disturbs the structure of the first portion of GPIbα N-terminal, directly involved in von Willebrand factor binding. As a consequence, platelet aggregation to 1.2 mg/mL of ristocetin is slightly impaired and flow cytometry reveals a reduced binding of monoclonals directed against N-terminal epitopes of the GPIbα.

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Section: Introductionmentioning

confidence: 99%

Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Vettore¹,

Scandellari²,

Moro³

et al. 2008

Haematologica

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“…The present day diagnosis of HPS is based on ascertaining the ethnicity of the patient, as well as assessing for conditions causing acquired thrombocytopenias, and also excluding the known inherited giant platelet disorders (IGPD) and other congenital thrombocytopenias. It is extremely important to recognize and diagnose Harris platelet syndrome, as almost one third the population of certain parts of Indian subcontinent is affected [5,7].…”

Section: Discussionmentioning

confidence: 99%

Giant Platelets in Platelet Donors – A Blessing in Disguise?

Roy

Choudhury

Ray

2015

JCDR

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“…There have been reports where patients have received high dose steroids and even splenectomy has been done [4,5].…”

Section: Discussionmentioning

confidence: 99%

“…They identified 11 patients as having probable macrothrombocytopenia (average MPV of 19.2 ± 3.8 fl). Blood counts done earlier by a conventional automated hematology analyzer had overlooked giant platelets in these patients, and all of them had received high-dose steroid therapy and/or splenectomy before the study [4].…”

Section: Discussionmentioning

confidence: 99%

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Macrothrombocytopenia in North India: Role of Automated Platelet Data in the Detection of an Under Diagnosed Entity

Kakkar

John

Mathew

2014

Indian J Hematol Blood Transfus

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Congenital macrothrombocytopenia is being increasingly recognised because of the increasing availability of automated platelet counts during routine complete blood count. If not recognised, these patients may be unnecessarily investigated or treated. The study was done to assess the occurrence of macrothrombocytopenia in the North Indian population and the role of automated platelet parameters in its detection. This prospective study was done on patients whose blood samples were sent for CBC to the hematology laboratory of a tertiary care hospital. Samples were run on Advia-120, a 5-part differential automated analyzer. Routine blood parameters including platelet count, mean platelet volume (MPV), platelet cytogram pattern and platelet flagging was studied along with peripheral blood smear examination. ANOVA was used to compare difference in mean MPV in patients with macrothrombocytopenia, and those with secondary thrombocytopenia and ITP. Seventy five (0.6 %) patients with CBC evaluation were detected to have macrothrombocytopenia, majority (96 %) of North Indian origin. The MPV (fl) in the 75 patients ranged from 10.9 to 23.3 (mean 15.1 ± 3

show abstract

Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia

Cited by 30 publications

References 20 publications

Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Giant Platelets in Platelet Donors – A Blessing in Disguise?

Macrothrombocytopenia in North India: Role of Automated Platelet Data in the Detection of an Under Diagnosed Entity

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