Results 31 to 40 of about 36,735 (203)

Beta thalassemia - a review

Journal of Pathology of Nepal, 2014
Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people) are carriers of beta Thalassemia.
R Jha, S Jha
doaj   +1 more source

Beta O-thalassemia intermedia [PDF]

Blood, 1978
Abstract Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C ...
G, Cividalli, H, Kerem, E, Ezeckiel, E A, Rachmilewitz   +3 more
openaire   +3 more sources

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

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

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

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Lack of awareness about thalassemia; a social factor in the propagation of beta thalassemia gene in Pakistan: A population study

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Background: Beta thalassemia is the most common genetic disorder in Pakistan. Thalassemia is a preventive disease a fact well demonstrated by countries such as Italy, Greece and Cyprus.
Muhammad Usman
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

Theorizing Beta Thalassemia Major: an Overview of Health Sociology

RIMCIS, 2020
This research focuses on specific models of health and illness, explored by many researchers across the world. The sequential variations and critic of each model is summed up by researcher and the relevant theoretical orientations of beta thalassemia ...
Muhammad Abo ul Hassan Rashid, Saif-Ur-Rehman Saif Abbasi   +1 more
doaj   +1 more source