Results 31 to 40 of about 20,917 (253)

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

Thalassemia Reports, 2022
This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family.
Hossein Jalali, Mohammad Reza Mahdavi, Mahan Mahdavi, Adeleh Abbasi   +3 more
doaj   +1 more source

Quality of life among adolescents with hemoglobinopathies [PDF]

, 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, Shahznan Hassan Badr, Abdul Mahdi A. Hasan   +3 more
core   +2 more sources

Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

Thalassemia Reports, 2014
Hemoglobinopathies (HBP) are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD) and selective pregnancy termination is shown to
Suha Mustafa Hassan, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano   +3 more
doaj   +1 more source

Investigating the Effects of Oral Ginseng on the Cancer-Related Fatigue and Quality of Life in Patients with Non-Metastatic Cancer

International Journal of Hematology-Oncology and Stem Cell Research, 2018
Background: Cancer affects the physical, psychological, and social aspects of the patients’ life. Cancer-related fatigue (CRF) is the most common and severe condition among cancer patients. Ginseng has long been used as an efficient treatment for CRF and
Khatereh Pourmohamadi, Ahmad Ahmadzadeh, Mahmood Latifi   +2 more
doaj   +1 more source

A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience [PDF]

, 2021
Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns.
Botta, Venkata Satya Kartheek, Balakrishnan, Padmapriya, Natukula, Kirmani, Atla, Bhagyalakshmi, Lalam, Neelima, Argi, Anuradha, Padmapriya Balakrishnan, Kirmani Natukula, Bhagyalakshmi Atla, Anuradha Argi, Venkata Satya Kartheek Botta, Neelima Lalam   +11 more
core   +1 more source

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

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

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

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