December 29th 2021 was an unforgettable day for Guoguo and his family. Right before the beginning of new year, Guoguo finally returned to his normal life from transplantation unit/100-grade laminar flow ward. We believe that Guoguo will have a bright new future after all he had suffered from the disease.
At the age of three, he was diagnosed with severe thalassemia
Guoguo was born in a village family in Yunnan Province. Around 6 months ofage, Guoguo started showing severe symptoms of anemia which required regularblood transfusion. He was diagnosed with transfusion dependent β-thalassemia(TDT) when he was 3 years old.
Thalassemia
Thalassemia is a serious single-gene genetic disease with the widestdistribution in the world. The hemoglobin tetramer is made of two α-globinchains or α-like (ζ)–globin chains and two β-globin chains or β-like (ε, γ,δ)–globin chains. Thalassemia is caused by an imbalance in hemoglobin synthesisdue to the reduced production of at least one globulin polypeptide chain (β, α,γ, δ), and can be roughly divided into α-thalassemia and β-thalassemia.
Even though Guoguo’s father is a carrier of the mutational gene, Guoguo’s mother is perfectly healthy. Why did Guoguo get thalassemia? This question has been bothering Guoguo’s family until May 2018. BGI group provided free gene screening/testing and HLA donor matching services for TDT patients in Yunnan Province, including Guoguo’s family.
Through consultation, Dad Guo learned that high-resolution HLA matching can bring hope for the cure of Guoguo's disease. In order to clarify the cause of Guoguo, with the assistance of medical staff, Dad Guo decided to do the thalassemia gene for the family again. detection.
After consultation, Guoguo’s father realized that high-resolution HLA typing, and matching can bring hope to cure Guoguo’s TDT. In order to figure out the genetic basis of Guoguo’s disease, Guoguo’ father decided to have his whole family to take thalassemia gene test again. Soon the gene test report provided by BGI showed that a heterogeneous Codon 41/42 (-TTCT) mutation and a rare faulty mutation, Codon 5 (-CT), in Guoguo’s β-globin gene. Meanwhile, this rare mutation has also been identified in the β-globin genes of Guoguo’s mother and Guoguo’s younger brother. This rare mutation, first reported in China by Dr. Zhu Baosheng, a Chief Physician from Yunnan First People's Hospital, is a pathogenic mutation that are more abundant in Yunnan Province, which explains Guoguo’s severe thalassemia. Fortunately, the HLA typing and matching revealed that Guoguo’s dad is haplo-identical to Guoguo, meaning that Guoguo’s dad could be the HSC donor for Guoguo.
Strong appearance makes people forget he is still a child
From 6 months of age, Guoguo started receiving regular blood transfusion and iron chelation treatment. However, the side effects coming from years of blood transfusion were far more than what Guoguo can take. To cure Guoguo’s TDT and to save his life, Guoguo’s family decided to let Guoguo take the haplo-cord transplantation using the hematopoietic progenitor and stem cells collected from Guoguo’s data and cord blood from cord blood bank.
Upon October 29th 2021, Guoguo started his life in transplantation unit. In those 2 months, Guoguo went through repeated fever, hair loss, and coma. Guoguo was very tough and optimistic, sometimes we even forgot that he was just 9 years old. Luckily, everything went well and Guoguo was cured.
From the video shared by Guoguo’s father, now Guoguo can finish a puzzle of 1200 pieces in just a few days! He can also play in the park. We are all very thrilled for his progress.
Thalassemia is difficult to cure and preventable, and gene technology helps health!
According to the "Blue Book of Thalassemia in China (2015)", there are about 30 million thalassemia gene carriers in China, and around300,000 patients with thalassemia major and thalassemia intermediate who need to be treated. Patients who are transfusion-dependent start to show symptoms at3-6 months of age and require regular blood transfusion and iron chelation treatment. The treatment cost relates to blood transfusion is approximately ¥3000/month. This brings heavy financial burdens to TDT patients and many families are thrown back into poverty because of it. There are many families like Guoguo’s family, and we still have a long way to go to prevent and cure thalassemia for our society. Even though thalassemia is hard to be fully cured, it can be prevented by population screening, carrier detection, genetic counseling for high-risk groups, and prenatal diagnosis for high-risk pregnant women.
BGI group aims to create a “thalassemia free world” by gene screening and gene therapy.
Earlier this year, BGI group’s wholly-owned subsidiary, BGI Biotechnology(Wuhan) Co., Ltd, obtained the medical device registration certificate from the National Medical Products Administration for its alpha and beta thalassemia gene assay kit (combinatory Probe Anchored Synthesis based sequencing method).This thalassemia gene assay kit based on high-throughput sequencing technology was the first one to be approved by the Chinese NMPA, which can examine the both the deleterious or non-deleterious mutation for both alpha and beta thalassemia at one time, fulfilling the vacancy of gene assay kit for deleterious beta thalassemia mutations. The high sensitivity, high specificity and compatibility across various sequencing platforms and depth make this kit applicable for diverse needs of clinical clients.
As the pioneer in this field, BGI group developed the thalassemia gene assay techniques based on our own high-throughput sequencing platform with independent intellectual rights. Combining the extraordinary advantages of BGI group in the field of high-throughput sequencing, our thalassemia gene assay technique was born with features of high accuracy, high throughput, comprehensive detection, and low cost, providing a new technique for global thalassemia prevention and intervention. With advances in technologies and warm heart in helping more families like Guoguo’s, BGI group aims to bring health and happiness to the world.
