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Clinical Application

Thalassemia is a genetic hemolytic disease due to the occurrence of defects in the globin gene, resulting in reduced or not synthesis of globin chain synthesis, so that the ratio of globin chain to form hemoglobin is imbalance. It mainly includes two types: Alpha –thalassemia (α-thalassemia) and Beta-thalassemia (β-thalassemia).
 
α-thalassemia (including deletion type α-thalassemia and non-deletion type α-thalassemia) is one of the most commonly seen single gene inheritance diseases in the world. The commonly seen deletion type α-thalassemia genetypes are -α^3.7, -α ^4.2 and --^SEA. These three different types of deletions in the individual can be expressed as quiescent, standard, hemoglobin H (HbH) and Hb Bart′s Hydrops Fetalis. The common non-deletion type α-thalassemia genotypes are α^CSα、α^QSα and α^WSα. Non-deletion type α-thalassemia is one of the leading causes of clinical missed diagnosis of α-thalassemia.
 
β-thalassemia is caused by β-globin gene mutation. The commonly mutation loci are CD41/42, IVS-Ⅱ-654, -28, CD71/72, etc.

Intended Use

This kit is used for the in vitro qualitative detection of human whole blood genomic DNA sample, which can detect 3 kinds of deletion type α -thalassemia gene mutation (--^SEA 、-α^3.7and -α^4.2), 3 kinds of non-deletion type α-thalassemia gene mutation (α^{Constant Spring}α(α^CSα)、α^{Quong Sze}α(α^QSα) and αWestmeadα(α^WSα) and  17 kinds of β-thalassemia gene mutation (41-42M, 654M, -28M, 71-72M, 17M, βEM, IVS-I- 1M, IVS-I-5M, 27/28M, 43M, -29M, -30M, 31M, -32M, 14- 15M, IntM and CAPM).

Packing Specifications

General Specification

Methodology: PCR-Reverse Dot Blot
Sample Type: anti-coagulation whole blood
Precision: CV <5%
LoD: 10 ng/μL

Demonstration of Results