图书作者与内容简介

The author of this book David Weatherall is a physician and author. Studying mainly on genetic disorder of the human blood, he was an expert on the disease thalassaemia.  Famous achievements included discovering the main reason leading to thalassaemia, and developed the method to detect the disease. "Thalassaemia : the Biography" is all about the historical and scientific changes of the disease, from how it was discovered, to the main reason of thalassaemia and the management and control of the disorder.

我的观点

Thalassaemia , also famously known as "Mediterranean anemia", is one of the most common genetic disease in Taiwan. On biology textbooks in junior high school, thalassaemia is just another example of the genetic disorders. But this academic book gives us a new perspective on this disease .Thalassaemia was originally a deadly disease especially on children, but because of the medical discoveries of genetic medicines and check-ups on parents’ and infants’ genetic disease, thalassaemia is not a urgent threat to most of the newborns nowadays. But that doesn’t mean the disease is not important and needless to pay attention on anymore, about 6% of the Taiwanese have to live with thalassaemia for a lifetime, and more than nine hundred thousand of people carry this gene section without noticing it. 
Archaeological research shows that thalassaemia is an old illness, by studying the abnormality on human bones, they find out ancient human in Sicily and Sardinia suffered from this disease. Although thalassaemia was still unknown to human at that period of time, a Greek physician had already noted symptoms including leaden-colored skin and pain on the spleen, which is certainly compatible with thalassaemia . 
In 1925 an abstract by American pediatrician Thomas Cooley first describes thalassaemia, the five children he did research on suffered from anemia and enlargement of spleen, an organ which plays a role in the body's blood and immune system. The complicated name "thalassaemia" is first used in 1932 in a paper on deeper research of the disease, it came from the Greek meaning of 「the sea」, showing the Mediterranean region is the first place thalassaemia was discovered and first described, even though the discovery of thalassaemia is in the Mediterranean region, in the past 50 years, thalassaemia is also discovered in different regions like East Asia and Latin America.
 Although most of the symptoms of thalassaemia was discovered, the causes if the disease was still unknown at that time. Early literature described that symptoms regarding to thalassaemia occurring on more than one family member, but the reason behind it was not further discussed. Until 1937, thalassaemia was finally known as a genetic disease, Italian Michieli found out thalassaemia symptoms were shared by parents and children. It attracted other scientists and became the tipping point of thalassaemia researches. In the 1950s, thalassaemia was finally defined as a genetic disorder of hemoglobin production.
While the researches of the rationale and effect of thalassaemia was popular among genetic scientists, physicians were also studying on the treatment of the disease. Some of the first treatment of thalassaemia managing including giving large doses of iron, blood transfusions, and the removal of the spleen. Although the treatment might seem like solving the problem from its root, the survival rate of thalassaemia-carried children was still extremely low. Until the 1970s, when molecular medicine was prevalent among doctors, scientists started to think about the possibility to cure or at least to identify the disease beforehand. Using the technology, the doctor E. Thomas successfully finished the first bone marrow transplantation on a 14-year-old patient, diagnosis on thalassaemia are more accurate and help most of the patients to live a normal life.
 As the technology of genetic science’s rapid development and the growing attention to the disease, the author saw a glimmer of hope on treating thalassaemia with genetic therapy. Just last year, three clinical trial on genetic therapy of the β type thalassaemia was performed successfully, although the price is still expensive, it is still a huge progress on the treatment of the disease, hopefully in the near future, thalassaemia patients can safely live a live without worrying too much about the disease inside the body.