Results 51 to 60 of about 48,747 (238)

Premarital screening test results for beta thalassemia in Malatya Province

open access: yesMedicine Science, 2021
Hemoglobinopathies are the most common monogenic hereditary diseases worldwide. After sickle-cell disease, beta thalassemia has the highest incidence. Premarital screening is performed to detect beta thalassemia carriers and prevent pathological births ...
Mehmet Erten
doaj   +1 more source

BUSM News and Notes [PDF]

open access: yes, 1993
Monthly newsletter providing updates of interest to the Boston University School of Medicine ...
Boston University School of Medicine Office of Informational Services
core  

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal 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   +6 more
wiley   +1 more source

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

open access: yesRevista 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   +5 more
doaj   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 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

open access: yesMediterranean 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  

Effect of zinc supplementation on serum mlondealdehyde and lipid profiles on beta thalassemia major patients [PDF]

open access: yes, 2012
Objectives: Thalassemic patients are seriously at risk of serum dislipidemia, zinc deficiency and tissue damage due to oxidative stress induced by iron storage.
Aboomardani, M.   +3 more
core  

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Dukungan Keluarga Dalam Merawat Anak Dengan Thalassemia Beta Mayor

open access: yesCitra 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   +3 more
doaj   +1 more source

Compound Heterozygosity for Hemoglobin S and Hemoglobin LuLu Island

open access: yes
American Journal of Hematology, EarlyView.
Dana Lewis   +4 more
wiley   +1 more source

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