Results 21 to 30 of about 18,864 (254)

First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

Clinical Case Reports, 2022
SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset ...
Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi   +3 more
doaj   +1 more source

Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

Thalassemia Reports, 2015
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable.
Suha Mustafa Hassan, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano   +6 more
doaj   +1 more source

Animal models of β-hemoglobinopathies: utility and limitations

, 2016
Bradley McColl, Jim Vadolas Cell and Gene Therapy Laboratory, Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, VIC, Australia Abstract: The structural and functional conservation of hemoglobin throughout mammals has ...
McColl B, McColl, B, Vadolas, J, Vadolas J   +3 more
core   +1 more source

Spectrum of hemoglobinopathies in a tertiary care centre

Journal of Pathology of Nepal, 2020
Background: Thalassemia and other structural hemoglobinopathies are the most common single gene disorders throughout the world with the highest frequency in the tropics, subtropics, Mediterranean basin and Southeast Asia.
Nisha Sharma, Anil Dev Pant, Usha Manandhar   +2 more
doaj   +1 more source

Prevalence of hemoglobinopathies in pregnant women, Sancti Spíritus province

Universidad Médica Pinareña, 2020
Introduction: hemoglobinopathies are a group of genetic diseases, caused by disorders in the structure of hemoglobin chains. The Cuban National Health System's priority is the early diagnosis of these diseases.
Abel Ernesto Luna-López, Beatriz Concepción-Yero, Lucía Beatriz Yero-Muro, Ángela Elena Zúñiga-García, Maday Martín-Pérez   +4 more
doaj   +2 more sources

Quality of life among adolescents with hemoglobinopathies

, 2022
Background: Hemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden.
Hasan, Abdul Mahdi A., Badr, Shahznan Hassan   +1 more
core   +2 more sources

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +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

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