Logo-aim
Arch Iran Med. 2010;13(6):549-551.
PMID: 21039013
Scopus id: 78649437456
  Abstract View: 416
  PDF Download: 270

Original Article

A Study of Bernard-Soulier Syndrome in Tehran, Iran

Gholamreza Toogeh * , Manochehr Keyhani, Ramezanali Sharifian, Reza Safaee, Amirhossein Emami, Hossein Dalili

Abstract

BACKGROUND: Bernard Soulier Syndrome (BSS) is a hemorrhagic disorder with an autosomal recessive pattern of inheritance. We describe the demographic and clinical characteristics of Iranian patients with BSS followed in a major teaching and tertiary care hospital in Tehran, Iran.

METHODS: We performed a retrospective medical record review of 97 patients with BSS who received care at the Imam Khomeini Hospital between 1969 and 2001. We collected data on the family history, clinical presentation, bleeding episodes, and lab profiles of these patients.

RESULTS: Among all patients, 78 (81%) had a family history of consanguinity. The most common presenting symptom was epistaxis, seen in 62 (63.9%) patients. Peripheral blood smears demonstrated giant platelets on 67 (68.7%) of patients. Complete blood count demonstrated decreased platelets in 85 (87.4%) of patients ranging from 20,000/'L to 130,000/'L. Anemia was seen in 62 (64%) and 91 (93.8%) had prolonged bleeding time. The majority of patients (60%) had mild bleeding episodes, but 39 (40%) had at least one episode of severe bleeding in their past history.

CONCLUSION: Our data are consistent with other reports regarding clinical presentation of BSS, but consanguinity seems to be more common.

First name
 
Last name
 
Email address
 
Comments
 
Security code


Article Viewed: 416

Your browser does not support the canvas element.


PDF Downloaded: 270

Your browser does not support the canvas element.

First published online: 01 Nov 2010
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - FireFox Plugin)