Using a genome-wide association study, we found that common inter-individual differences in haemoglobin A(2) (HbA(2) , α(2) δ(2) ) levels are largely governed by genetic factors (42% of variability). The influence of age (1%) and sex (4%) was small. HbA(2) levels were influenced by two loci: the HBS1L-MYB locus on chromosome 6q, which has been shown to have pleiotropic effects on other haemat...

Background: Osteoarthritis of the acromioclavicular joint is one most common sources shoulder pain. One current standard clinical physical examination tests cross body adduction test which has been shown to signal presence osteoarthritis. Another referred as hand behind back described provide a more accurate diagnosis than CBA for some patients. Through this work, both and HBB were modeled in o...

BACKGROUND Hyoscine N-butyl bromide (HBB) acts by inhibiting cholinergic transmission in the abdomino-pelvic parasympathetic ganglia, thus relieving spasm in the smooth muscles of gastrointestinal, biliary, urinary tract and female genital organs, especially the cervico-uterine plexus and aiding cervical dilatation. AIM The study was undertaken to observe the effects of 40 mg intravenous HBB ...

Rice steam processed product of Rehmanniae Radix (RSRR), one the products (RR), is popular as an herbal medicine and food. However, health-promoting effects mechanisms RSRR are still unclear. In this study, 10-week-old Sprague–Dawley female rats were treated with different RR. No organ coefficient differences observed between control group, indicating that did not cause damage to rats. Compared...

Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies--the most widespread inherited disorders worldwide. Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE. Several of these mutations...

Background: Xmn-1 polymorphism of 𝜸Gglobin gene (HBG2) is a prominent quantitative trait loci (QTL) in β-thalassemia intermediate (β-TI). In current study, we evaluated the frequency of Xmn-1 polymorphism and its association with β-globin gene (HBB) alleles and Hb F level in β-TI patients in Sistan and Balouchestan province, south-east of Iran. Subjects and Methods: 45 β-TI patients were enroll...

β-Thalassemia and pseudoxanthoma elasticum (PXE) are distinct genetic disorders. Yet, a dystrophic mineralization phenotype similar to PXE has frequently been associated with β-thalassemia or sickle cell anemia patients of Mediterranean descent. These calcifications are clinically and structurally identical to inherited PXE. As we previously excluded the presence of PXE-causing mutations in the...

BACKGROUND Neonatal mortality accounts for 45% of under-5 mortality worldwide, with 98% of newborn deaths occurring in developing countries. The Dominican Republic (DR) demonstrates one of the highest neonatal mortality rates in Latin America despite broad access to care. Strategies to support professional capacity building and strengthen the local health care system are needed to improve neona...

AIMS β-Thalassemia is a common inherited red cell disorder characterized by ineffective erythropoiesis and severe oxidative stress. Peroxiredoxin-2 (Prx2), a typical 2-cysteine peroxiredoxin, is upregulated during β-thalassemic erythropoiesis, but its contribution to stress erythropoiesis, a common feature of thalassemia, is yet to be fully defined. RESULTS Here, we showed that Prx2(-/-) mice...

BACKGROUND Abdominal aortic aneurysm (AAA) is a common cardiovascular system disease with high mortality. The aim of this study was to identify potential genes for diagnosis and therapy in AAA. METHODS We searched and downloaded mRNA expression data from the Gene Expression Omnibus (GEO) database to identify differentially expressed genes (DEGs) from AAA and normal individuals. Then, Gene Ont...