Medicine and diagnostic kit for treating alpha-thalassemia

Abstract

The invention relates to a medicine for treating alpha-thalassemia and a diagnostic kit. The research finds that the 6mA levels of a TGFBR1 gene, an IFNGR1 gene, a TREM2 gene, an SQSTM1 gene, an MAP3K7IP2 gene, an MAP3K14 gene, a P38 gene, an OSCAR gene and a TREM2 gene in an osteoclast induced differentiation pathway in an alpha-thalassemia patient are obviously up-regulated. Therefore, the application of 6mA of the IFNGR1 gene, the TGFBR1 gene, the OSCAR gene, the TREM2 gene, the SQSTM1 gene, the MAP3K7IP2 gene, the MAP3K14 gene and the P38 gene in preparation of products for diagnosing or treating the alpha-thalassemia provides a new direction for diagnosis and treatment of the alpha-thalassemia.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a medicine and a diagnostic kit for treating alpha-thalassemia. Background technique [0002] Thalassemia (Thalassaemia, referred to as thalassemia) is due to the reduction or loss of α and β globin peptide chain synthesis, which causes hemoglobin production disorders, resulting in ineffective hematopoiesis and hemolytic anemia. In mild cases, the complexion is pale or often accompanied by fatigue, and in severe cases, it is accompanied by jaundice, enlarged spleen, bone disease, and growth retardation in children. Thalassemia mainly includes two types: α-thalassemia and β-thalassemia, and is one of the most common human monogenic genetic blood diseases in the world. [0003] At present, α-thalassemia mainly focuses on prevention. The molecular basis of the disease is relatively complex, with many mutation types and scattered mutation hotspots, which are easy to miss diagnosis. C...

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Problems solved by technology

The molecular basis of the disease is relatively complex, with many mutation types and scattered mutation hotspots, which is easy to miss diagnosis

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