Mr. Shang from Wushan County, Gansu Province is 29 years old this year and has suffered from anemia since childhood. “I feel different from other children. Every time I play, I can’t breathe.” At first, Mr. Shang was only pale, weak and uncomfortable. As he got older, the symptoms became more and more obvious and severe, and he was unable to participate in sports. Otherwise, chest tightness and shortness of breath will occur. His anxious parents sent him to the hospital, where he was diagnosed with severe anemia, but the cause of the anemia was unclear, so he could only receive blood transfusions and temporarily supplement some hematopoietic raw materials to treat the symptoms but not the root causes.
Due to severe anemia, Mr. Shang cannot even go to school normally, let alone do farm work at home. As he got older, Mr. Shang was unable to work and had to stay at home. “Seeing others go to school and work normally, I don’t mention how envious I am,” said Mr. Shang. As the condition became more and more serious, Mr. Shang struggled to walk at first, and then he was unable to walk, so he could only use a wheelchair.
Before coming to Jiangsu Provincial People’s Hospital for treatment, Mr. Shang had developed to the point where he needed a blood transfusion every 10 days. Long-term blood transfusion not only failed to improve Mr. Shang’s condition, but even caused a serious “iron overload” in the body. Iron is an important trace element for hematopoiesis. Anemia patients will absorb a large amount of iron in the gastrointestinal tract for hematopoiesis, and the iron absorbed at this time cannot be effectively utilized by the human body, resulting in iron overload. Iron overload not only made Mr. Shang’s skin blue, but also caused him to suffer from liver cirrhosis and ascites. Long-term severe anemia and iron deposition caused cardiac hypertrophy and abnormal cardiac function.
After finding out the hidden “family secret” with keen eyes
, Director Li Jianyong of the Department of Hematology of Jiangsu Provincial People’s Hospital carefully inquired about the patient’s medical history and perfected relevant examinations. With years of experience in clinical diagnosis and treatment of blood diseases, Director Li Jianyong highly suspected that Mr. Shang was suffering from a rare congenital anemia disease, and immediately arranged the sub-specialty team of Chief Physician He Guangsheng of Hematology Department and Chief Physician Gong Yuemin to conduct follow-up bone marrow examinations. Puncture examination and evaluation showed that Mr. Shang had a disorder of iron metabolism and utilization, and abnormal distribution of iron particles in cells. All the test results point to a disease called “sideroblast anemia”.
After genetic testing, Mr. Shang suffered from hereditary sideroblastic anemia. Taking into account the genetic characteristics of the disease, the team of Chief Physician He Guangsheng subsequently conducted relevant examinations on Mr. Shang’s father, mother and younger brother, and finally uncovered the “family secret” hidden by Mr. Shang: Mr. Shang’s mother and younger brother also suffered from hereditary diseases. Sideroblastic anemia, only mild symptoms, did not cause serious consequences.
Determine the cause, the treatment drug is also determined – vitamin B6! After 4 weeks of drug treatment, Mr. Shang was free of blood transfusion, his skin color became normal, he was able to walk independently, and gradually returned to his normal social life. Mr. Shang’s mother and younger brother, at the suggestion of Director He, also began to take vitamin B6 regularly to treat anemia.
