Results 21 to 30 of about 20,435 (244)

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

Assessment of growth-related hormones in patients with hereditary hemoglobinopathies [PDF]

, 2022
Background: Hemoglobinopathies are global public health problems affecting developed and non- developed countries with major consequences for human health as well as economic and social development.
Hamid Jaddoa Abbas, Abbas, Hamid Jaddoa, Ghfran A. Kadim, Ibraheem, Shrouk A. Hassan Al., Kadim, Ghfran A., Shrouk A. Hassan Al. Ibraheem   +5 more
core   +1 more source

Hemoglobinopathies and other congenital hemolytic anemia [PDF]

, 2004
Hemoglobinopathies are characterized by production of structurally defective hemoglobin due to abnormalities in formation of the globin part of hemoglobin.
Asha Shah
core   +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

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

Hemoglobinopathies in the Fetal Position [PDF]

Obstetric Anesthesia Digest, 2018
(N Engl J Med. 2018;379:1675–1677) Hemoglobinopathies are disorders caused by mutations in genes that encode globins and include sickle cell disease and β-thalassemia. It has been reported that adults with these hemoglobinopathies who have comparatively high levels of fetal hemoglobin (HbF) have better clinical outcomes than those with low ...
Pasricha, S, Drakesmith, H
openaire   +3 more sources

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

Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

Indian Journal of Public Health, 2012
Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide ...
Bhawna Bhutoria Jain, Rabindra Nath Roy, Sulekha Ghosh, Tapan Ghosh, Uma Banerjee, Subodh Kumar Bhattacharya   +5 more
doaj   +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

New opportunities for hemoglobinopathies screening in Nigeria

, 2021
New opportunities for hemoglobinopathies screening in ...
Andrusha, A.
core   +1 more source