Risultati per Thalassemia molecular genetic analysis kit

Di seguito l'elenco dei risultati di ricerca trovati rilevanti per la keyword 'Thalassemia molecular genetic analysis kit':

Risultati maggiormente rilevanti:

 frontiers | update in laboratory diagnosis of thalassemia
Molecular Analysis for α and β-Thalassemia Mutations The advent of the PCR has enabled screening for single-base mutations to become simpler ( Eisenstein, 1990 ). Most of thalassemia mutations are point mutation. Point mutations are considered to be single-base substitutions or minor insertions or deletions.

 molecular genetics of β-thalassemia: a narrative review
Abstract β-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia.

 thalassemias | choose the right test - arup consult
Thalassemias are inherited hemoglobinopathies that arise from the unbalanced synthesis of globin chains, which results in abnormal hemoglobin (Hb). 1 2 3 Thalassemias affect an estimated 5-7% of the worldwide population and are most common in individuals of Mediterranean, Middle Eastern, Southeast Asian, African, and African American descent. 1 …

Altri risultati:

 third-generation sequencing as a new comprehensive technology for ...
Context.—. Identification of rare thalassemia variants requires a combination of multiple diagnostic technologies.Objective.—. To investigate a new approach of comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) for identification of α- and β-globin gene variants.Design.—. Enrolled in this study were 70 suspected carriers of rare thalassemia ...

 evaluating the clinical utility of a long-read sequencing-based ...
A gap-PCR kit was used to detect common deletional α-thalassemia variants including – SEA, -α 3.7, and -α 4.2. A PCR-RDB kit for α-thalassemia was used to detect variants including HBA2 c.369C > G, HBA2 c.377T > C, and HBA2 c.427T > C.

 diverse approaches to gene therapy of sickle cell disease
Abstract. Sickle cell disease (SCD) results from a single base pair change in the sixth codon of the β-globin chain of hemoglobin, which promotes aggregation of deoxyhemoglobin, increasing rigidity of red blood cells and causing vaso-occlusive and hemolytic complications. Allogeneic transplant of hematopoietic stem cells (HSCs) can eliminate ...

 molecular epidemiology and hematologic ... - bmc medical genetics
All these assays were performed with a thalassemia gene detection kit (Shenzhen Yishengtang Biological Products Co., Ltd.; Shenzhen, China). Gap-PCR was performed for individuals with HbF levels ≥5% to screen two types of β-globin gene cluster deletions, Chinese ( A γδβ) 0 thalassemia and Southeast Asian (SEA) HPFH, using specific primers [ 18 ].

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