What is thalassemia

  Thalassemia, also known as thalassemia, is a monogenic hereditary hemolytic blood disorder with high prevalence, high risk and difficult to cure worldwide. China is a country with a high prevalence of thalassemia, with more than 20 million carriers of the gene for thalassemia in Guangdong, Guangxi and Hainan alone. When both husband and wife are carriers of α or β thalassemia mutation, there is a 25% chance that their offspring will develop heavy or intermediate α or β thalassemia. Affected children with severe anaemia die in the perinatal period or early childhood, and those with intermediate type may lose their workforce, which causes a heavy burden to families and society and seriously affects the quality of the population. The birth of children with moderate and severe thalassemia, including those in the south of China, is a recognized public health problem worldwide. How to deal with the large number of newborn children with thalassemia every year for treatment and to improve the quality of survival of this population is one of the unsolved problems in the world medicine.  First of all, we should clarify the characteristics of the disease of thalassemia, which is an autosomal monogenic genetic disorder. The pathogenesis of thalassemia is the mutation or deletion of genes regulating the synthesis of pearl proteins located on chromosome 11 and 16, resulting in the production of a large number of ineffective red blood cells, which eventually leads to hemolytic anemia and subsequently affects the function of the heart, spleen and other important organs of the body cumulatively.  Secondly, the treatment of thalassemia at home and abroad still takes blood transfusion combined with iron removal as the main treatment method. However, due to the massive hemolysis in β-thalassemia patients which causes giant spleen and hyperfunction, aggravating anemia and other blood cell damage, this treatment can only last for ten years at most. Some people at home and abroad have tried to treat geodystrophy with alkylating agents (hydroxyurea, 5-azacytidine, etc.), butyrate and its derivatives, marilan, etc., which limit their application in clinical practice because of their extremely strong side effects.  Again, mentioning bone marrow stem cell transplantation as well as gene therapy, although they are the most promising treatment direction for the cure of patients with thalassemia, they are difficult to be popularized in clinical practice and limited to individual cases due to many problems such as mating and marrow source restrictions, risks in implementation, expensive costs and very low rate of homologous recombination. As a result, the treatment of geodystrophy remains an unsolved international challenge to date. Therefore, it is not advisable to try to rely on fire smoked mugwort to treat geodynia.  The group led by Prof. Wu Zhikui of Guang’anmen Hospital, Chinese Academy of Traditional Chinese Medicine, relying on the National Key Basic Research Program (“973”) and other national foundation projects, based on the theory of “kidney collects essence to produce marrow and marrow to produce blood” and the clinical practice, has developed a research program on the causes of the disease, Chinese medicine and the treatment of moxa. Based on the theory and clinical practice of “the kidney collects essence to produce marrow and marrow to produce blood”, the group has systematically analyzed the etiology, TCM symptoms and genetic mutations, and proposed for the first time that the theory of “the kidney generates marrow and marrow generates blood” is the theoretical basis of Chinese medicine for the treatment of thalassemia. It is proposed that “deficiency of congenital endowment, deficiency of kidney and marrow, and lack of source of transformation of essence and blood” is the core pathogenesis of geodynia, and the basic treatment method for geodynia is to tonify the kidney and benefit the marrow.  In comparison with the clinical reports of individual cases of geodeprivation at home and abroad, the group has achieved positive efficacy in the clinical standardized study of the method of tonifying the kidney and benefiting the marrow in the treatment of geodeprivation in a large sample in a high prevalence area. In recent years, a randomized, single-blind, placebo-parallel-controlled clinical observation, and a randomized, double-blind, placebo-parallel-controlled clinical study with international registration and evaluation by internationally recognized diagnostic and efficacy criteria, as well as third-party coded-blind and third-party statistical processing, have been used in the high prevalence area of Guangxi to evaluate the clinical efficacy of Yi Marrow and Blood Granules for the treatment of thalassemia, which has achieved reproducible and positive efficacy The clinical efficacy evaluation of Yimelopoietin in the treatment of thalassemia has achieved reproducible positive efficacy, which makes the clinical study of TCM treatment of thalassemia more scientific and objective.  What is more noteworthy is that the treatment of thalassemia with Yimelopoietin can not only produce good clinical effects during the treatment period, but also maintain the efficacy for about 4 months after stopping the drug; Yimelopoietin can slow down the decline of hemoglobin after transfusion in thalassemia patients with high transfusion, prolong the interval of transfusion, and thus reduce the amount of blood transfusion, which can indirectly reduce the accumulation of iron in the body and reduce the amount of iron removal drugs, which has practical significance for the clinical treatment of thalassemia. This has practical implications for the clinical treatment of thalassemia.  Modern research methods have also further elucidated the molecular biological mechanism of kidney tonicity for the treatment of geodynia. Combining traditional Chinese medicine theory with modern science and technology, the molecular mechanism of tonifying the kidney to benefit the marrow in the treatment of geodystrophy has been investigated from multiple levels of genes, proteins and cells, and from multiple perspectives of neuro-endocrine-immune cycle. “Instead, it modifies and balances the bead protein chain ratio, regulates the expression of functional genes, reduces the inclusion bodies of red blood cells, improves the hematopoietic microenvironment, activates endogenous stem cells, promotes the proliferation and differentiation of bone marrow hematopoietic stem/progenitor cells, and affects the DNA methylation modification.  Both animal and cellular experimental studies have found that Yimelogenic particles can reactivate the γ-luciferin gene and restart fetal hemoglobin expression, which is not only very meaningful for the clinical treatment of β-thalassemia, but also can help us explore the search for new drugs from the Chinese herbal compound. The results of the study have brought the overall level of Chinese medicine treatment for thalassemia to a new level and partially elucidated the modern biological basis of “kidney essence”.  It has been applied in high prevalence areas for 25 years and has been used by more than 10,000 patients in 13 provinces and cities in China and abroad. It has been applied in People’s Hospital of Guangxi Zhuang Autonomous Region, Affiliated Hospital of Yujiang Medical College, Baise People’s Hospital and 303 Hospital of the People’s Liberation Army, etc. It has gained obvious social benefits and achieved inter-regional transfer. Zhang Xinhua, a core member of the group, was appointed as the technical advisor of the Guangxi Plan for Prevention and Control of Thalassemia and the technical expert of thalassemia, and participated in 31 lectures of the training courses on the technique of screening and diagnosis of thalassemia and the technique of prenatal diagnosis of thalassemia; the team of the Thalassemia Specialized Disease Center led by Zhang Xinhua regularly screened thalassemia for couples of childbearing age, gave lectures on prevention of thalassemia at the grassroots level for many times and held activities to care for children with thalassemia in the high prevalence areas every year.   Professor Chen Kaixian, Academician and Shanghai Institute of Pharmaceutical Sciences, pointed out that “the research is a leading advantageous project in the treatment of difficult diseases in Chinese medicine, and is an original innovation with traditional Chinese medicine characteristics, which has already produced extensive social benefits and impacts.”  Chinese medicine to prevent and treat thalassemia and other major difficult diseases is a major national need and the need to maintain people’s health, based on the previous work will also continue in-depth research under the guidance of Chinese medicine theory, strengthen international cooperation and exchange, continue to play the role of the efficacy of Chinese medicine in the treatment of thalassemia, and bring the role of Chinese medicine to remote mountainous areas.