Editor’s note: Thalassemia, also known as thalassemia, or anemia with impaired production of pearl proteins, is mainly distributed in Mediterranean countries and Asian regions. Thalassemia has been reported in all provinces south of the Yangtze River in China, and is less common in the north. Guangdong, Guangxi, Yunnan, Guizhou, Sichuan, Hainan and Hong Kong SAR are the high prevalence areas, and the incidence rate is about 10%. About thalassemia, often readers write letters, calls for advice, I would like to use this article to answer in detail, to the benefit of readers. Anemia, love to eat hair, is thalassemia? In the morning outpatient clinic, an anxious young woman with a lab sheet in one hand and a newspaper in the other, sat in front of me worriedly. “Doctor, my son’s face doesn’t look too good lately, not much blood. This morning, the kindergarten teacher called me and said that the results of this semester’s physical examination had just come out, and the child’s blood pigmentation was low and he was anemic, and also said that the child had been in low spirits for a long time, so she asked me to bring him to the hospital for a look.” “How old is your child? Where is the person?” I asked. “He’s four and a half years old, and he’s not out of class yet. I was so anxious that I went to the kindergarten to get the labs and came here first.” The child’s mother went on to say, “What worries me most is that in recent months, I found that this child has a strange habit, that is, he likes to pull the hair from my comb and stuff it into his mouth, and I told him several times that he wouldn’t listen. Sometimes his father and I hit him when we are angry, but he just can’t change. Yesterday, I saw this story in the newspaper ……” said she, handing me the newspaper in her hand. The news story, which I happened to read last night, said that a girl with thalassemia major had been having weird eating behavior since she was six years old, preferring to eat cigarette butts and raw rice, and had eaten more than 80,000 butts in seven years. “Doctor, I’m worried, the child is anemic and likes to eat hair, does she also have thalassemia?” I carefully looked at the child’s blood tests and found that not only was the hemoglobin level low, only 85 g/l (editor: the normal value should be more than 100 g/l), but also the size of the red blood cells and the hemoglobin content of individual red blood cells were low, which was typical of “small cell low pigment” anemia. Further conversation with the mother, I learned that the child was born in good health, and the annual physical examination in the past did not reveal any problems. However, in the past year, the child’s teachers reported that the child was a picky eater, preferring to eat only food and not vegetables, probably because the child was not used to the new kindergarten’s diet. Half a year ago, she began to feel that her child did not look well, had no energy, and loved to eat her hair. After understanding the situation, I comforted her and said: “Don’t worry, just look at this blood test can’t determine the type of anemia in the child, must be further tested. As Guangdong and Guangxi are the high prevalence areas of thalassemia (hereinafter referred to as thalassemia), many parents are very worried about whether their children are thalassemic once they see that their children have been diagnosed with thalassemia. This kind of worry is completely understandable, but it is not necessary to be too hasty. This concern is understandable, but there is no need to be overly alarmed. Not to mention that it has not yet been determined whether or not a child is anemic, and even if he or she is, there are many different types of anemia. In fact, many types of thalassemia are not as scary as one might think, and treatment varies from type to type.” Thalassemia, the condition can be mild or severe “So what kind of disease is thalassemia anyway?” Settled down the child’s mother asked immediately after. I explained, “Thalassemia is a hereditary hemolytic anemia. In healthy conditions, each child will generally have two normal sets of genes that control hemoglobin synthesis, one from the father and one from the mother. If a child inherits one or more of the thalassemia genes from a parent who carries the disease-causing genes, the components of his or her hemoglobin are altered, which may result in a predisposition of red blood cells to be lysed and destroyed, a shorter lifespan, and subsequent development of the symptoms associated with thalassemia. “There are two main types of anemia, alpha and beta. Those with reduced synthesis of the alpha chain of hemoglobin are called alpha-anemia, while those with reduced synthesis of the beta chain of hemoglobin are called beta-anemia. Each of these types can be further divided into three or four types, such as mild (α-alpha and very mild), intermediate and severe. Very mild forms of anemia have no clinical symptoms and no anemia, and the children are called carriers of the anemia gene; mild forms also have only mild anemia, mostly without clinical symptoms. These two types of children are often found during physical examinations or family screening for the anemia gene. Because they are usually asymptomatic or only mildly anemic, they often have no impact on their lives or work, so they generally do not need treatment. “Children with the intermediate form often have moderate anemia and most often occur before the age of five. Sick children may present with fatigue, pallor, yellowing of the skin, and abdominal distention due to enlarged liver and spleen. As the disease progresses, or if treatment is not timely, the bone marrow compensatorily ‘works overtime’ to produce more red blood cells, resulting in progressive enlargement of the bone marrow cavity. Among other things, the enlargement of the bone marrow cavity in the skull can lead to changes in the child’s facial features, and the sick child may grow uglier as a result. “The main type of anemia that has significant health consequences is severe alpha-alpha-alpha-alpha-alpha-alpha-alpha-alpha-alpha-alpha. Heavy alpha-alpha anemia occurs in the fetal period, just born to die or after birth can not survive; heavy beta-alpha anemia children, often born at the time of the abnormalities can not be seen, a few months after birth, the sick child slowly appeared pale yellow, liver and spleen enlargement and other symptoms. The condition of children with severe disease worsens very quickly, and they often have to rely on continuous blood transfusion to maintain their lives. Unless they undergo hematopoietic stem cell transplantation, it may be very difficult for them to survive into adulthood because of the various complications caused by prolonged anemia and repeated transfusions, as well as the excessive deposition of iron in the body. Therefore, it is very rare to see people with severe geopoverty among adults.” “Well, after your introduction, I have some preliminary understanding of the anemia, I and his father did not find any problems with anemia in the previous physical examination. According to the law of inheritance of anemia that you have just mentioned, can my child be excluded from the anemia? But why does he like to eat inedible things like hair, like the children with thalassemia mentioned in the newspaper?” Heterophagia may not be thalassemia “This condition of your child, medically called heterophagia, is mostly seen in children. It is a condition in which the sick child likes to eat things that are usually not allowed as food, such as dirt, cinders, lime, hair and paper scraps. It is possible to have an anorexia, but anorexia is not a diagnostic criterion for anorexia. Other common causes of xerophagia include micronutrient (e.g., iron and zinc) deficiencies, intestinal parasitic diseases (e.g., roundworm and hookworm infections), and certain psychological disorders can lead to xerophagia. As swallowing dirt may exacerbate intestinal parasitic infections; swallowing large quantities of ash, mud and sand may cause lead poisoning; swallowing things that cannot be digested by the body, such as hair and confetti, etc., may also result in clumps of foreign bodies and the formation of intestinal obstruction. Therefore, it is necessary to find out the cause of the disease as soon as possible and treat it actively for the children with xerophagia. “As mentioned earlier, carriers of the gene for geophagia may not show signs of anemia, so the fact that you both did not find anemia on physical examination does not mean that you are not carrying the geophagia gene. Your child’s anemia appeared around four years old, and recently has the habit of picky eating, more should be highly aware of the possibility of nutritional anemia (such as iron deficiency anemia). At present, the first consideration is iron deficiency anemia or intermediate type of anemia, and severe type of anemia can be basically excluded, so you do not need to worry too much for the time being. Next, you can make a microscopic blood cell morphology, while serum iron, hemoglobin electrophoresis and other tests, in order to initially clarify the diagnosis. If it is really thalassemia, you should also have another screening for the causative gene of thalassemia to clarify the specific type.” Genetic Characterization of Thalassemia “Okay. Since we often read about thalassemia in newspapers and magazines, we are usually quite concerned about it.” The child’s mother went on to say, “I have another question I’d like to know: if both husband and wife are carriers of the thalassemia gene with no anemia manifestations of mild or very mild thalassemia, will they give birth to a child with intermediate or severe thalassemia?” “This question is actually a concern for many expectant parents in areas with a high prevalence of geopoverty.” I replied, “Thalassaemia is an autosomal genetic disease, and the inheritance of the disease-causing gene has nothing to do with gender. Therefore, the popular beliefs about ‘Thalassaemia is transmitted to males but not females’, and ‘if the first child is thalassaemic, the second child won’t be (or is definitely) thalassaemic’, are all justified by the fact that the first child is thalassaemic. Therefore, the popular beliefs that ‘terribleness is not transmitted to male children’ and ‘if the first child is terribly poor, the second child will not be (or will definitely be) terribly poor’ are all misunderstandings. In fact, when a person with mild forms of endemic poverty marries a normal person, there is a 50-50 chance that the child will be mildly endemic; if both spouses are mildly endemic, there is a one-in-four chance that their child will be normal, a one-in-two chance that he or she will be mildly endemic (or intermediate) and a one-in-four chance that he or she will be severely endemic. This shows how important it is for areas with a high prevalence of geopoverty to include geopoverty testing as a routine part of the premarital physical examination.” “Well, I understand. I really hope the child doesn’t have any major problems, thank you!” In the end, I gave the mother’s child the appropriate checklist and urged her to bring her child to the hospital for further examination as soon as possible. Afterword: three days later, the child’s test results showed: hemoglobin electrophoresis is normal, blood cell morphology does not target red blood cells and other typical changes in anemia, but the serum iron test value is low, and finally diagnosed as “nutritional iron deficiency anemia”. After three weeks of oral iron therapy, his hemoglobin level increased significantly and returned to the normal range after two months. The parents also cooperated with behavioral modification, and the child’s hair-eating paganism gradually disappeared.