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Nature Medicine Essay L A SK er ~ KO SHL an D S P ec I A L ac HI E V ement COMMENTARY IN MEDIcaL SCIENCE AWARD Thalassemia: the long road from the bedside through the laboratory to the community David Weatherall I owe my long interest in inherited blood After my discharge from the army, I went to a diseases and tropical medicine to a series the US to work at Johns Hopkins University, 1.0 Gradient β of characteristically bizarre decisions by the spending time in the medical genetics, hema- 0.8 100 British Army. In 1958, 2 years after qualifying tology and biophysics departments. By 1960 ml c.p.m. 0.6 α –1 in medicine from Liverpool University, I was it was known that human hemoglobin (Hb) (280 nm) A drafted for 2 years of compulsory National consists of four pairs of peptide chains—two 0.4 50 Service. Terrified of flying, snakes and bul- α-chains and two β-chains (α2β2); in fetal 0.2 lets, I volunteered to serve in the UK. So it life, the main hemoglobin—HbF—has two was that a few weeks later, and after a long α-chains and two γ-chains (α2γ2). It was also 10 20 30 40 50 60 b Fraction number and eventful voyage on a troop ship that ran known that sickle cell anemia results from an β aground in the Suez Canal, I found myself in amino acid substitution in the β-globin chain, α 0.5 1,000 charge of the Children’s Ward in the British and there were also hints that the cause of thal- Gradient Military Hospital in Singapore. At that time, assemia might involve the α- or β-globin-chain 0.4 800 ml c.p.m. the hospital served the soldiers and families of genes. My first work in Baltimore, carried 600 0.3 –1 (280 nm) the Commonwealth forces who were engaged out in Ned Boyer’s laboratory, was to trudge A 0.2 400 in the long war against the Chinese commu- around the hospitals collecting cord blood to nists in Malaya, as it was then called. One of look for hemoglobin variants that would clar- 0.1 200 my first patients was a Nepalese child whose ify the genetic regulation of α-globin synthesis 10 20 30 40 50 60 father was serving in a Gurkha regiment. She in fetal and adult life and that, incidentally, led Fraction number had been profoundly anemic from the first to the finding of a mild form of thalassemia Figure 1 Globin synthesis in thalassemia. year of life and had been kept alive by monthly in many African-American infants. But it was (a) Labeled globin from a nonthalassemic blood transfusions. After a long struggle, and clear that further progress in understanding individual. (b) Labeled globin from an intact with the help of Frank Vella, a biochemist from the cause of thalassemia would require the red blood cell lysate from an individual with Singapore University, we found that this child development of methods for studying hemo- β-thalassemia. The continuous black line had thalassemia, an inherited blood disease globin synthesis in vitro. shows the α- and β-chains, and the broken line that was thought at the time to be restricted Because of the paucity of red blood cell represents the incorporation of radioactivity. It later became possible to separate the -chains of to Mediterranean populations. precursors capable of synthesizing hemoglo- γ HbF from the β-chains. Reproduced from ref. 1. I spent the second year of my National bin in the blood of normal people or people Service working in a military hospital in with thalassemia, it took a while to define Taiping, close to the Thai border where the the conditions in which it was possible to Michael Naughton, graduates of Fred Sanger’s remaining communist terrorists were being obtain linear incorporation of radioactive laboratory in Cambridge, UK, were work- rounded up. There I saw a wide spectrum of amino acids into hemoglobin for periods of ing in the biophysics department at Johns tropical diseases, and, in my spare time and 90 minutes or more. When this approach Hopkins at that time. For reasons that are with a primitive electrophoresis setup com- was applied to blood samples from children still obscure to me, they took on the unen- prising car batteries and filter paper, searched with thalassemia, it appeared as though there viable task of trying to educate me into the for more individuals with thalassemia. was unequal labeling of the α- and β-globin basics of protein chemistry. Clegg wondered chains. The problem was that there was no whether, by adapting methods he had used for David Weatherall is at the Weatherall Institute of method for separating them with anything separating other protein chains in his doctoral Molecular Medicine, University of Oxford, John close to a quantitative yield. thesis work, we could use a similar approach Radcliffe Hospital, Headington, Oxford, UK. A lucky break was to come, however. Two to separate globin chains. It was remark- e-mail: [email protected] English protein chemists, John Clegg and ably successful, and we were able to examine xxiv VOLUME 16 | NUMBER 10 | OCTOBER 2010 natURE MEDICINE commentary normal and thalassemic labeled globins and might occur at a high frequency because of of α-thalassemia has an ameliorating effect show that the basic defect in thalassemia is heterozygote resistance to severe malaria5. on the phenotype by reducing the degree of unbalanced globin-chain synthesis, with Until the molecular era, this was difficult to globin chain imbalance, whereas the inheri- excess α-chains produced in β-thalassemia prove. However, in a series of studies car- tance of more α-chain genes than usual has and excess β-chains in α-thalassemia1 (Fig. ried out in the Pacific Islands and in Papua the opposite effect. Similarly, an inherited 1). This method was subsequently used by New Guinea, our students Adrian Hill and ability to make more γ-chains of fetal hemo- many groups to define the different forms Jonathan Flint, together with Angela and globin results in a milder phenotype. Many of thalassemia and their pathology. And, Steve Allen, were able to show without any of the complications of the disease are also just a few years later, it was used to diagnose doubt that the α-thalassemias are highly pro- modified by genetic factors; there are differ- thalassemia during fetal life as an approach tective against malaria caused by Plasmodium ences in the patterns of adaptation to ane- to prenatal diagnosis, an advance that led to a falciparum6. Some of our other students, mia at different ages, and the environment, marked reduction in the births of babies with notably Tom and Kathryn Williams, who had notably exposure to malaria7, also modifies severe thalassemia in several countries over taken part in this work, continued to work in the phenotype (Fig. 2). Clearly, this so-called the succeeding years. this field in East Africa and, aside from rep- ‘simple’ monogenic disease is anything but After returning to England in the mid- licating these results, described new epistatic simple, an important message for those who 1960s and writing the first edition of The interactions between the different hemoglo- are now doing battle with the complexities Thalassaemia Syndromes, which has reap- bin variants in Africa with respect to malaria of the genetic component of common dis- peared in several editions over the years2 as a susceptibility. eases8. guide to workers in the field, we established a Throughout these years, we and others By the early 1980s, it was clear that the hemoglobin research group, first in Liverpool continued to explore the reasons for the molecular technology that was proving so and later in Oxford. In the early days, and in remarkable clinical diversity of the thalas- effective for studying the hemoglobin dis- collaboration with Robert Williamson and semias. In the case of the β-thalassemias, for orders was going to be applicable to many John Paul, we were able to show deletions example, it turned out that the co-inheritance fields of medical research in the future. As as the cause of severe forms of α-, β- and δβ-thalassemia. Also, after studying a fam- αααα/αα ily with an unusual form of α-thalassemia ααα/αα referred to us by Paul Milner from Jamaica, αα/αα we were able to characterize thalassemia due −−/αα 0 + ++ to mutations in the α-globin chain termina- −α/αα β ,β ,β tion codon3. Later on, these and unrelated mutations were found to be carried by up to 4% of the population of Thailand and to Proteolysis Excess α-chains γ-chains be the cause of α-thalassemia in many other (Hb F, α2γ2) populations. Inclusion bodies As direct analysis of DNA became possible, Ineffective erythropoiesis, hemolysis we focused our attention on the remarkable diversity in the structure of the α-globin genes, the numerous mutations that produce Anemia the diverse clinical forms of α-thalassemia Bone Iron and the feasibility of early prenatal diagnosis Jaundice Infection by fetal DNA analysis. We also identified a disease loading completely new class of α-thalassemias asso- ciated with mental retardation that resulted from subtelomeric deletions affecting the VDR HFE UGT1A1 Coselection α-globin genes on chromosome 16 or muta- ESR1 HLA-DR TNF tions of a gene on the X chromosome. Later COL ICAM1 on, the first of these two classes led to the Adaptation DARC recognition of submicroscopic, subtelomeric deletions as a relatively common cause of 4 mental retardation .
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