Results 1 to 10 of about 840,950 (218)

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Journal of Blood Medicine, 2018
Chanchai Traivaree,1 Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Warakorn Prasertsin,2 Boonchai Boonyawat3 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Department of ...
Traivaree C, Monsereenusorn C, Rujkijyanont P, Prasertsin W, Boonyawat B   +4 more
doaj   +1 more source

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

The Application of Clinical Genetics, 2017
Parth S Shah,1 Nidhi D Shah,2 Hari Shankar P Ray,3 Nikunj B Khatri,3 Ketan K Vaghasia,3 Rutvik J Raval,4 Sandip C Shah,3 Mandava V Rao5 1Department of Medicine, Lahey Hospital and Medical Center, Boston, MA, 2Department of Pediatrics, Nassau University ...
Shah PS, Shah ND, Ray HSP, Khatri NB, Vaghasia KK, Raval RJ, Shah SC, Rao MV   +7 more
doaj   +1 more source

Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management [PDF]

پزشکی بالینی ابن سینا
Background and Objective: Thalassemia is an inherited blood disorder with an autosomal recessive inheritance pattern caused by the reduced or absent production of globin chains.
Ghasem Miri-Aliabad
doaj  

Association Between Plasma Cystatin C Concentration and Urine Osmolality in Adults with Different Forms of Beta-Thalassemia: A Cross-Sectional Study in Vietnam

Thalassemia Reports
Objective: To determine plasma cystatin C concentrations, urine osmolality and their relationship with disease severity in beta-thalassemia patients. Methods: A cross-sectional study was conducted on 234 patients with beta-thalassemia, including equal ...
Loan Do Thi Thanh, Anh Nguyen Ngoc, Kien Nguyen Trung, Ha Nguyen Thi Thu, Dung Nguyen Huu, Thang Le Viet   +5 more
doaj   +1 more source

Enhancing thalassemia carrier detection: Advancing genetic screening strategies in prenatal care

Journal of the Formosan Medical Association
The carrier rates of alpha- and beta-thalassemia are notably high in certain regions. Current screening methods using traditional mean corpuscular volume (MCV) measurements can prevent the birth of severe cases of thalassemia, but often miss carriers of ...
Han-Ying Chen, Yi-Lien Lin, Yi-Ning Su, Ti-Jia Yuan, Shin-Yu Lin, Chien-Nan Lee, Kuan-Heng Chen   +6 more
doaj   +1 more source

The shortcut strategy for beta thalassemia prevention

Hematology Reports, 2018
We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples.
Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri   +6 more
doaj   +1 more source

Pattern of red cell indices in beta thalassemia trait and E trait

Haematology Journal of Bangladesh
Background: Thalassemia is the most common single gene disorder that affects globin chain synthesis.  Hb electrophoresis is the gold standard for detection of beta thalassemia trait and E-trait, but it is costly and not available in upazila and district
Nahid Sultana
doaj   +1 more source

Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels

Haematologica, 2003
BACKGROUND AND OBJECTIVES: Ferrokinetic studies and erythroid cell ultrastructural studies have indicated some degree of ineffective erythropoiesis in heterozygous beta-thalassemia, although a wide case-to-case variation was observed.
C Skarmoutsou, I Papassotiriou, J Traeger-Synodinos, H Stamou, V Ladis, A Metaxotou-Mavrommati, A Stamoulakatou, E Kanavakis   +7 more
doaj  

Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados The profile of beta thalassemia obtained by data mining analysis in a database

Revista Brasileira de Hematologia e Hemoterapia, 2010
Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to
Ana L. B. Domingos, Lucas A. Granzotto, Edis Belini Junior, Thiago Y. K. Oliveira, Ana C. B. Domingos, Claudia R. Bonini-Domingos   +5 more
doaj   +1 more source

Dukungan Keluarga Dalam Merawat Anak Dengan Thalassemia Beta Mayor

Citra Delima, 2019
ABSTRAK Pendahuluan: Thalassemia merupakan penyakit anemia hemolitik yang diturunkan secara genetik. Indonesia termasuk salah satu Negara yang memiliki penduduk pembawa gena thalassemia dengan prevalensi sebesar 3-8%. Anak thalassemia beta mayor harus
Rezka Nurvinanda, Sri Mulatsih, Sri Hartini, Intansari Nurjannah   +3 more
doaj   +1 more source