نتایج جستجو برای: thalassemia intermedia

تعداد نتایج: 23663  

2014
Boonchai Boonyawat Chalinee Monsereenusorn Chanchai Traivaree

BACKGROUND Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. OBJECTIVE This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Ho...

2013
Min Lin Ying-Fang Wen Jiao-Ren Wu Qian Wang Lei Zheng Gui-Rong Liu Yue Huang Hui Yang Fen Lin Xiao-Fen Zhan Chun-Ping Lin Hui-Tian Yang Qiu-Qing Weng Fen-Ting Huang Yuan Wang Mei-Qiong Yao Hui-Zhou Chen Di-Hong Wu Jing-Bo Zeng Ri-Xin Zeng Hua Yang Gui-Cai Li Min Lu Juan-Juan Zhu Long-Xu Xie Jun-Li Wang Li-Ye Yang

BACKGROUND Hemoglobinopathies are the most common inherited diseases in southern China. However, there have been only a few epidemiological studies of hemoglobinopathies in Guangdong province. MATERIALS AND METHODS Peripheral blood samples were collected from 15299 "healthy" unrelated subjects of dominantly ethnic Hakka in the Meizhou region, on which hemoglobin electrophoresis and routine bl...

Mehran Karimi, Nader Cohan, Vincenzo De Sanctis,

This study presented a mini review on folic acid deficiency and recommendations for its supplementation in thalassemia intermedia (TI). TI is a clinical condition which lies between thalassemia major and thalassemia minor. Although TI patients may not need regular blood transfusion, precise diagnosis and management are critical for the prevention of clinical complications and quality of life im...

Journal: :Pediatrics 2005
Elliott P Vichinsky Eric A MacKlin John S Waye Fred Lorey Nancy F Olivieri

OBJECTIVE Changing patterns of immigration to North America, along with improved treatment, have altered the clinical spectrum of thalassemia, one of the world's most common genetic diseases. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Characterization of the new spectrum of this ancient disease, now pre...

2016
Tze Yan Lee Logeswaran Muniandy Lai Kuan Teh Maha Abdullah Elizabeth George Jameela Sathar Mei I Lai

OBJECTIVE The diverse clinical phenotype of hemoglobin E (HbE)/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story. The BTB and CNC homo...

2011
Eliezer A. Rachmilewitz Patricia J. Giardina

The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including -thalassemia intermedia and -thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use ...

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