Background Thalassemia is a common inherited hemoglobin disorder caused by deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are major causes β-thalassemia, which large fragment rare difficult to be detected conventional polymerase chain reaction (PCR)-based methods. Case report In this study, we reported 26-year-old Han Chinese man, whose routine bl...

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...

The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification o...

although mycoplasma equigenitalium has been implicated in equine reproductive problems, its prevalence is largely unexplored due to the lack of specific diagnostic tests. to address this limitation, the authors developed and optimized species-specific primer pairs that target m. eguigenitalium rpob (rna polymerase b subunit) gene sequences. the specificity of the pcr assay developed in this stu...

Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this study, primers and probes were designed to specifically i...

Objectives: Hemoglobin E disease, c.26G>A variant of beta-globin gene, is the most common hemoglobinopathy in Asia. Compound heterozygotes inheriting Hb disease and beta-thalassemia generate beta-thalassemia-Hb with severe anemia. This study aimed to develop a pre-implantation genetic testing for monogenic disorders (PGT-M) protocol beta–thalassemia (c.17A>T mutation)-Hb (c.26G>A mutat...

The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the region encompassing the delta-globin gene from three Greek Cypriot families suspected of having delta-thalassemia was amplified by polymerase chain reaction (PCR), and DNA sequence determined u...

Background: Thalassemia is an inherited blood disorder that affects hemoglobin’s structure and functions. Among several forms of this life-threatening disorder, HbE/β β-thalassemia are most common in Bangladesh worldwide as well. But the molecular clinical data not adequate regarding underlying cause genetic Bangladesh. So, we aimed to identify mutations within β-globin gene (HBB) investigate c...

Hemoglobin (Hb) Constant Spring is an alpha-thalassemic hemoglobinopathy that is a major cause of severe alpha-thalassemia in Southeast Asians. The difficulty of diagnosing Hb Constant Spring using standard electrophoretic methods has led to interest in DNA-dependent diagnostic methods. The methods developed have had to contend with the high degree of homology of the alpha 2-globin gene (the si...