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 +3 more
doaj +1 more source
Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register [PDF]
, 2016 PURPOSE: The nationwide public health registers in Denmark provide a unique opportunity for evaluation of disease-associated morbidity if the positive predictive values (PPVs) of the primary diagnosis are known.
Frederiksen, Henrik +3 more
core +2 more sources
Conference scene : Golden Helix Pharmacogenomics Days : educational activities on pharmacogenomics and personalized medicine [PDF]
, 2012 The Golden Helix Pharmacogenomics Days are high-profile international educational scientific meetings discussing pharmacogenomics and personalized medicine.
Borg, Joseph J. +5 more
core +2 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 +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 +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 +4 more
doaj +2 more sources
Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]
, 2010 Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
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Flowcytometric assessment of fetomaternal hemorrhage during external cephalic version at term [PDF]
, 2008 External cephalic version (ECV) at term is a safe procedure and reduces the incidence of cesarean sections for breech presentation. One of the known complications, however, is an ECV-related disruption of the placental barrier and a subsequent ...
Friese, Klaus +6 more
core +2 more sources
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 +4 more
doaj +1 more source
Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]
, 2011 Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
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