Results 11 to 20 of about 16,337 (195)

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

Providing appropriate genetic information to healthy multi-ethnic carriers of hemoglobinopathy in The Netherlands

Thalassemia Reports, 2014
The aims of this study are: i) to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; ii) to study whether using information letters and thorough explanation is associated with ...
Piero C. Giordano, Natasha B.D. Binda, Antonio Amato, Egbert Bakker, Cornelis L Harteveld   +4 more
doaj   +1 more source

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

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

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

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

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source