نتایج جستجو برای: hemoglobinopathy

تعداد نتایج: 519  

Journal: :American journal of human genetics 2017
Diyu Chen Yangjin Zuo Xinhua Zhang Yuhua Ye Xiuqin Bao Haiyan Huang Wanicha Tepakhan Lijuan Wang Junyi Ju Guangfu Chen Mincui Zheng Dun Liu Shuodan Huang Lu Zong Changgang Li Yajun Chen Chenguang Zheng Lihong Shi Quan Zhao Qiang Wu Supan Fucharoen Cunyou Zhao Xiangmin Xu

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing ...

Journal: :Pediatrics 2010
Sant-Rayn Pasricha James Black Sumithra Muthayya Anita Shet Vijay Bhat Savitha Nagaraj N S Prashanth H Sudarshan Beverley-Ann Biggs Arun S Shet

OBJECTIVE More than 75% of Indian toddlers are anemic. Data on factors associated with anemia in India are limited. The objective of this study was to determine biological, nutritional, and socioeconomic risk factors for anemia in this vulnerable age group. METHODS We conducted a cross-sectional study of children aged 12 to 23 months in 2 rural districts of Karnataka, India. Children were exc...

2018
Yeşim Aydınok Yeşim Oymak Berna Atabay Gönül Aydoğan Akif Yeşilipek Selma Ünal Yurdanur Kılınç Banu Oflaz Mehmet Akın Canan Vergin Melike Sezgin Evim Ümran Çalışkan Şule Ünal Ali Bay Elif Kazancı Talia İleri Didem Atay Türkan Patıroğlu Selda Kahraman Murat Söker Mediha Akcan Aydan Akdeniz Mustafa Büyükavcı Güçhan Alanoğlu Özcan Bör Nur Soyer Nihal Özdemir Karadaş Ezgi Uysalol Meral Türker Arzu Akçay Süheyla Ocak Adalet Meral Güneş Hüseyin Tokgöz Elif Ünal Naci Tiftik Zeynep Karakaş

OBJECTIVE The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. MATERIALS AND METHODS A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis....

Journal: :F1000Research 2023

Patients with hemoglobinopathy may experience short-term benefits from nutritional support and blood transfusions, but long-term results be better if a precise diagnosis is obtained course of treatment or safety measures adopted. The goal the study to determine prevalence haemoglobin abnormalities in people who presented moderate severe anaemia using electrophoresis They will undergo tes...

Journal: :Voprosy gematologii/onkologii i immunopatologii v pediatrii 2022

From 2010 to 2020, we investigated 197 children with hemolytic anemia of unknown etiology at the Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology and Immunology Ministry Healthcare Russian Federation. Fifty-four them were found have hemoglobinopathy caused by unstable abnormal hemoglobins: Hb Monroe/Kairouan, Tacoma, Köln/SanFrancisco, Cheverly, City Hope, Southam...

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