Results 131 to 140 of about 34,912 (203)

Comparative analysis of the frequencies of α-thalassemia-associated mutations in microcytic patients and healthy volunteers in Rio de Janeiro, Brazil

open access: yesAnais da Academia Brasileira de Ciências
Thalassemia, an autosomal recessive genetic disorder affecting production of normal globin chains, presents varying prevalence worldwide. The frequency of global α-thalassemia remains understudied, especially in Brazil, due to its genetic diversity and ...
ELIANA A. SANTOS   +4 more
doaj   +1 more source

Transient depletion of innate immunity in varicella infections in otherwise healthy children [PDF]

open access: yes, 2009
Objective: Varicella is a common childhood infection and has a number of complications in the unvaccinated population. Perforin, found in natural killer cells, is important for the killing of virally infected cells. For this reason, the aim of this study
Ateş Kara   +5 more
core  

An investigation of the protective effect of alpha+-thalassaemia against severe Plasmodium falciparum amongst children in Kumasi, Ghana [PDF]

open access: yes
Background: The alpha+-thalassaemias are the most common monogenic disorders of humans, characterised by microcytic and hypochromic anaemia. Their high frequency reflects selective advantage against death from Plasmodium falciparum malaria.
Opoku-Okrah, C., Opoku-Okrah, C.
core  

بررسی مولکولی جهش های غير حذفی ژن های آلفاگلوبين بيماران آلفا تالاسمی دراستان کرمانشاه [PDF]

open access: yes, 2014
زمينه و هدف : آلفاتالاسمی يک بيماری تک ژنی با توارث اتوزومی مغلوب بوده و در جمعيت هايی با منشاء مديترانه ای و آسيای جنوب شرقی شايع می باشد. بررسی شيوع جهش های غير حذفی اين بيماری می تواند راهنمای مفيد و سريعی جهت پيش گيری، کنترل و تشخيص قبل از تولد اين ...
اكرمي پور, رضا   +3 more
core  

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia. [PDF]

open access: yesFront Endocrinol (Lausanne), 2023
Lan Y   +10 more
europepmc   +1 more source

Prevalence of single and double thalassemia carriers in pregnant women and spouses: Case study of Sawanpracharak Hospital

open access: yesJournal of Associated Medical Sciences, 2018
Background: Thalassemia is common in Thailand. Knowing the prevalence of thalassemia carriers in married couples would lead to proper management of this disease.
Ekthong Limveeraprajak
doaj  

Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil

open access: yesGenetics and Molecular Biology, 2012
α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population ...
Gustavo Henrique de Medeiros Alcoforado   +7 more
doaj  

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