Results 91 to 100 of about 34,320 (185)

Evaluation of efficiencies of MCV, HbH inclusion body test and Gap-PCR in the screening of α-thalassemia: A case study of Lampang Hospital

Journal of Associated Medical Sciences, 2009
α-thalassemia is characterized by quantitive abnormality of α-globin chain commonly occur in Thailand. Heterozygote of α-thalassemia is clinically asymtomatic, but with modest alteration of hematologic parameters.
Tiemjan Kewkarnkha, Surasit Suwannasin, Thanusak Tatu   +2 more
doaj  

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Predicting factors of survival rates among alpha- and beta-thalassemia patients: a retrospective 10-year data analysis

Frontiers in Hematology
BackgroundThalassemia is a genetic hemoglobinopathy in which a defective globin chain can cause transfusion-dependent anemia and other complications.
Kunapa Iam-arunthai, Tawatchai Suwanban, Pravinwan Thungthong, Supat Chamnanchanunt, Supat Chamnanchanunt, Suthat Fucharoen   +5 more
doaj   +1 more source

Red blood cell indices and\ud Prevalence of Hemoglobinopathies and Glucose 6 Phosphate Dehydrogenase Deficiencies in Male Tanzanian Residents of Dar es Salaam [PDF]

Hemoglobinopathies, disorders of hemoglobin structure and production, are one of the most common monogenic disorders in humans. Glucose 6 phosphate dehydrogenase deficiency (G6PD) is an inherited enzymopathy resulting in increased oxygen stress ...
Athuman, Thabit, Daubenberge, Claudia A, Hamad, Ali, Jongo, Said, Joseph, Selina, Kamaka, Kasimu, Lweno, Omar, Mohammed, Mgeni, Moreno, Elena, Mwakasungula, Solomon, Rashid, Ramla, Schindler, Tobias, Shekalaghe, Seif, Tanner, Marcel, Tumbo, Anneth Mwasi   +14 more
core  

Prenatal diagnosis of thalassemia [PDF]

, 2008
published_or_final_versio
Chan, V, Cheong, KB, Leung, KY, Tang, MHY   +3 more
core  

Emergence of red blood cell alloantibodies and transfusion management in patients with warm autoantibodies at a tertiary care centre in British Columbia, Canada

Vox Sanguinis, EarlyView.
Abstract Background and Objectives The presence of warm autoantibodies (WAAs) complicates pre‐transfusion and compatibility testing. Despite attempts to provide antigen‐matched red blood cells (RBCs), the risk of alloimmunization remains. Rates of alloimmunization and indications for transfusion were reviewed to streamline testing and RBC provision ...
S. Hutspardol, J. Mi, C. Denesiuk, D. Kalar, L. Sham, M. Roche, J. R. Tsu, D. Lam, M. T. S. Yan   +8 more
wiley   +1 more source

The research of the detection of thalassaemia multiple mutations by next-generation sequencing technology [PDF]

, 2015
地中海贫血又称珠蛋白生成障碍性贫血，早期的病例来自地中海地区，故称为地中海贫血，是世界范围内影响最大的单基因病之一，遵循孟德尔遗传定律。该病是由珠蛋白基因的缺失或点突变所致，根据其变异的肽链可分为α地贫和β地贫。由于其基因缺陷的复杂、多样，使缺乏的珠蛋白链类型、数量、临床症状变异较大。临床上对中、重度地中海贫血无行之有效的治疗方法，给社会、家庭、个人带来了沉重的经济及精神负担。故有效检出地中海贫血患者、进行婚前孕前指导、产前诊断、避免地中海贫血患儿的出生，有着极其重要的社会意义 ...
成明
core  

Comprehensive Hematological and molecular Characterization of hemoglobin Hekinan [α27(B8)Glu→Asp(α1), HBA1:c.84G > T] in a Large Thai cohort

Hematology
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis.
Amornchai Suksusut, Jidapa Jaitheang, Manussavee Prapphal, Pranee Sutcharitchan, Ponlapat Rojnuckarin, Noppacharn Uaprasert   +5 more
doaj   +1 more source

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.

PLoS ONE, 2014
ObjectiveTo reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.MethodsA total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular ...
Aihua Yin, Bing Li, Mingyong Luo, Longchang Xu, Li Wu, Liang Zhang, Yuanzhu Ma, Tingting Chen, Shuang Gao, Juqing Liang, Hao Guo, Danqing Qin, Jicheng Wang, Tenglong Yuan, Yixia Wang, Wei-wei Huang, Wen-Fei He, Yanxia Zhang, Chang Liu, Sujian Xia, Qingshan Chen, Qingguo Zhao, Xiaozhuang Zhang   +22 more
doaj   +1 more source

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey [PDF]

, 2015
α-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region.
Acik, Didar Yanardag, Ayaz, Akif, Balci, Tugce B., Canbek, Sezin, Yalcintepe, Sinem, Yilmaz, Basak Taburoglu, Yuregir, Ozge Ozalp   +6 more
core   +2 more sources