Marker composition for deletion type alpha thalassemia, detection reagent and application

By using polypeptide marker composition and liquid chromatography-tandem mass spectrometry technology, the peak area ratio of polypeptide fragments in the blood of patients with deletion α thalassemia was determined, and the problem of difficulty in screening and diagnosis of deletion α thalassemia in the prior art was solved, and the detection effect of high sensitivity and high specificity was achieved.

CN119804884APending Publication Date: 2025-04-11CHILDRENS HOSPITAL OF CHONGQING MEDICAL UNIV
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Patent Information

Application Number
CN202411983403.2
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-12-30
Publication Date
2025-04-11

AI Technical Summary

Technical Problem

The prior art is difficult to effectively screen and diagnose deletion alpha thalassemia, especially in quiescent and mild cases, and the instability of Hb Bart’s limits its clinical application.

Method used

The peak area ratio of these polypeptide fragments was determined by liquid chromatography-tandem mass spectrometry method using the combination of polypeptide marker compositions P1, P2, P3, P4, and P5 to achieve early screening and preliminary typing of deletion α-thalassemia.

Benefits of technology

It improves the detection sensitivity and specificity of deleted α thalassemia, can effectively identify severe, moderate and mild α thalassemia, and is suitable for the detection of venous blood, fingertip blood, heel blood or whole blood specimens, and the sample storage conditions are relatively flexible.

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Abstract

The invention belongs to the technical field of biology, and particularly relates to a marker composition for deletion type alpha thalassemia, a detection reagent and application. The marker composition is a combination of any two polypeptide fragments of P1, P2, P3, P4 and P5; wherein the amino acid sequences of P1-P5 are respectively shown as SEQ ID NO: 1-5 in sequence. The invention also provides a method for separating and determining the peak area ratio of the biomarker composition based on liquid chromatography-tandem mass spectrometry. The method comprises the following steps: 1) separating polypeptide fragments in a blood sample of a patient suffering from deletion type alpha thalassemia by adopting liquid chromatography; and 2) determining by using a mass spectrometry detector, quantifying each peptide fragment by using a peak area integration method, and calculating the peak area ratio of peptide fragment markers. The marker can effectively identify various types of deletion alpha-thalassemia, and rapid screening and preliminary typing of various types of alpha-thalassemia can be realized by calculating the peak area ratio of each peptide fragment marker.
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