Results 31 to 40 of about 20,435 (244)

Role of novel and rare nucleotide substitutions of the β-globin gene

Thalassemia Reports, 2012
The Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at the Villa Sofia-Cervello Hospital in Palermo, Italy, carries out an intensive screening program aimed at identifying the healthy carriers of thalassemia and, consequently, the ...
Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Pina Lo Gioco, Filippo Leto, Cristina Passarello, Antonino Giambona   +6 more
doaj   +1 more source

Significance of the mathematically calculated red cell indices in patients with qualitative and quantitative hemoglobinopathies

The Egyptian Journal of Internal Medicine, 2022
Background Hemoglobinopathies represent a set of inherited red blood cell (RBCs) disorders, characterized by abnormal hemoglobin molecule. They include qualitative and quantitative hemoglobinopathies, with a structurally abnormal globin chain in the ...
Heba A. Ahmed, Safaa A. A. Khaled, Eman M. Fahmy, Nesreen A. Mohammed, Hamdy F. F. Mahmoud   +4 more
doaj   +1 more source

Hemoglobinopathies in Turkey

Hemoglobin, 1985
Öz bulunamadı.
openaire   +3 more sources

Splenic Tropism and Spleen‐Modulated Systemic Inflammation in Acute Plasmodium vivax Malaria

American Journal of Hematology, EarlyView.
ABSTRACT In chronic Plasmodium vivax (Pv) infection, the spleen accounts for over 98% of total‐body parasite biomass. Whether splenic tropism also occurs in acute infection and how the spleen influences pathogenesis have not been systematically explored. In Papua, Indonesia, we compared clinical and hematology data in 24 spleen‐intact and 25 previously
Steven Kho, Hasrini Rini, Noy N. Kambuaya, Syawal Satria, Freis Candrawati, Putu A. I. Shanti, King Alexander, Benediktus Andries, Aisah R. Amelia, Anjana Rai, Kim A. Piera, Agatha M. Puspitasari, Ristya Amalia, Pak Prayoga, Leo Leonardo, Maulina Hafidzah, Theo Situmorang, Dewi S. Margayani, Desandra A. Rahmayenti, Pengxing Cao, Enny Kenangalem, Leily Trianty, Damian Oyong, Julie A. Simpson, Rintis Noviyanti, Pierre A. Buffet, Jeanne R. Poespoprodjo, Nicholas M. Anstey   +27 more
wiley   +1 more source

Epidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece

Annals of Hematology
TDT and SCD are hereditary hemoglobinopathies that require lifelong red blood cell transfusions. Modern treatment has increased survival, exposing patients to transfusion-related problems such iron excess.
Sophia Delicou, Aikaterini Xydaki, Vassiliki Kamposou, Sabrina Goga, Anthimos Papadopoulos, Christina Rina, Maria Moraki   +6 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Prevalence of hemoglobinopathies in different regions and castes of Uttar Pradesh, India -A hospital based study

Asian Journal of Medical Sciences, 2015
Background: Thalasemia and other hemoglobinopathies are found in all the states of India and their prevalence is quite variable. In Uttar Pradesh very few studies are found which explore the spectrum of hemoglobinopathies.
Pratima Verma
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

The New Hemoglobinopathies [PDF]

, 1970
The clinical explorations which have resulted from studies of mutant hemoglobin have allowed definition of a variety of syndromes whose manifestations require explanation in terms of the effects of molecular distortion on physiological processes.
Cooper, Robert M.
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