Swee Lay Thein
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Swee Lay Thein is a Malaysian haematologist and
physician-scientist A physician-scientist (in North American English) or clinician-scientist (in British English and Australian English) is a physician who divides their professional time between direct clinical practice with patients and scientific research. Physicia ...
who is Senior Investigator at the
National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
. She works on the
pathophysiology Pathophysiology (or physiopathology) is a branch of study, at the intersection of pathology and physiology, concerning disordered physiological processes that cause, result from, or are otherwise associated with a disease or injury. Pathology is ...
of
haemoglobin Hemoglobin (haemoglobin, Hb or Hgb) is a protein containing iron that facilitates the transportation of oxygen in red blood cells. Almost all vertebrates contain hemoglobin, with the sole exception of the fish family Channichthyidae. Hemoglobi ...
disorders including
sickle cell disease Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited Hemoglobinopathy, haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the ...
and
thalassemia Thalassemias are a group of Genetic disorder, inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild to ...
.


Early life and education

Thein was born in
Kuala Lumpur Kuala Lumpur (KL), officially the Federal Territory of Kuala Lumpur, is the capital city and a Federal Territories of Malaysia, federal territory of Malaysia. It is the largest city in the country, covering an area of with a census population ...
,
Malaysia Malaysia is a country in Southeast Asia. Featuring the Tanjung Piai, southernmost point of continental Eurasia, it is a federation, federal constitutional monarchy consisting of States and federal territories of Malaysia, 13 states and thre ...
. She studied medicine in both Malaysia and the
United Kingdom The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Northwestern Europe, off the coast of European mainland, the continental mainland. It comprises England, Scotlan ...
. She graduated from the
University of Malaya The Universiti Malaya (lit 'University of Malaya'; abbreviated UM) is a public university, public research university located in Kuala Lumpur, Malaysia. It is the oldest Malaysian institution of higher education, and was the only university in ...
in 1976. She specialised in
hematology Hematology (American and British English spelling differences#ae and oe, spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to bloo ...
at the
Royal Postgraduate Medical School The Royal Postgraduate Medical School (RPMS) was an independent medical school, based primarily at Hammersmith Hospital in west London. In 1988, the school merged with the Institute of Obstetrics & Gynaecology, and in 1997 became part of Imperial ...
and the
Royal Free Hospital The Royal Free Hospital (also known as the Royal Free) is a major teaching hospital in the Hampstead area of the London Borough of Camden. The hospital is part of the Royal Free London NHS Foundation Trust, which also runs services at Barnet Ho ...
. She moved to
Oxford Oxford () is a City status in the United Kingdom, cathedral city and non-metropolitan district in Oxfordshire, England, of which it is the county town. The city is home to the University of Oxford, the List of oldest universities in continuou ...
, where she worked at the Medical Research Council (MRC) Molecular Hematology Unit in the
Weatherall Institute of Molecular Medicine The MRC Weatherall Institute of Molecular Medicine at the University of Oxford is a research institute located at the John Radcliffe Hospital in Oxford. Founded in 1989 by Sir David Weatherall, the institute focuses on furthering our understan ...
and the
John Radcliffe Hospital John Radcliffe Hospital (informally known as the JR or the John Radcliffe) is a large tertiary teaching hospital in Oxford, England. It forms part of Oxford University Hospitals NHS Foundation Trust and is named after John Radcliffe (physician) ...
. She held various positions at Oxford, including a MRC Clinical Training position, a
Wellcome Trust The Wellcome Trust is a charitable foundation focused on health research based in London, United Kingdom. It was established in 1936 with legacies from the pharmaceutical magnate Henry Wellcome (founder of Burroughs Wellcome, one of the predec ...
senior fellowship and an honorary consultancy.


Research and career

In 2000 Thein joined
King's College London King's College London (informally King's or KCL) is a public university, public research university in London, England. King's was established by royal charter in 1829 under the patronage of George IV of the United Kingdom, King George IV ...
as a Professor of Molecular Haematology. She was made Clinical Director of the Red Blood Cell clinic at
King's College Hospital King's College Hospital is a major teaching hospital and major trauma centre in Denmark Hill, Camberwell in the London Borough of Lambeth, referred to locally and by staff simply as "King's" or abbreviated internally to "KCH". It is managed by ...
. Her work considers the
pathophysiology Pathophysiology (or physiopathology) is a branch of study, at the intersection of pathology and physiology, concerning disordered physiological processes that cause, result from, or are otherwise associated with a disease or injury. Pathology is ...
of haemoglobin disorders; which include
sickle cell disease Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited Hemoglobinopathy, haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the ...
and
thalassemia Thalassemias are a group of Genetic disorder, inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild to ...
. The only cures for sickle cell disease and thalassemia are
bone marrow Bone marrow is a semi-solid biological tissue, tissue found within the Spongy bone, spongy (also known as cancellous) portions of bones. In birds and mammals, bone marrow is the primary site of new blood cell production (or haematopoiesis). It i ...
transplants, but these are not always available. Whilst both conditions can present with a variety of clinical severities, a remediating factor is the ability to produce
foetal haemoglobin Fetal hemoglobin, or foetal haemoglobin (also hemoglobin F, HbF, or α2γ2) is the main oxygen carrier protein in the human fetus. HemoglobinF is found in fetal red blood cells, and is involved in transporting oxygen from the mother's bloodstream ...
(HbF). Foetal haemoglobin is the haemoglobin that transports oxygen during
foetal A fetus or foetus (; : fetuses, foetuses, rarely feti or foeti) is the unborn offspring of a viviparous animal that develops from an embryo. Following the embryonic development, embryonic stage, the fetal stage of development takes place. Pren ...
life and in infants until they are six months old. She has studied the mechanisms responsible for the formation of foetal haemoglobin. Thein demonstrated that HbF levels are mainly controlled by genetics, and that majority of the genetic variance is accounted for by factors outside the
globin The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen. These proteins all incorporate the globin fold, a series of eight alpha helical segments. Two prominent members include myo ...
locus. Thein used
linkage analysis Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separ ...
to identify two of the
quantitative trait loci A quantitative trait locus (QTL) is a Locus (genetics), locus (section of DNA) that correlates with variation of a quantitative trait in the phenotype of a Population genetics, population of organisms. QTLs are mapped by identifying which molecula ...
(QTL) for this HbF variability. These loci are involved with the control
haematopoiesis Haematopoiesis (; ; also hematopoiesis in American English, sometimes h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. In a healthy adult human, roughly ten ...
and the production of HbF. The loci are located on the chromosomes 6q and 2p which are located within the BCL11A gene. Whilst it was known that BCL11A was involved with cancer, Thein was the first to show that BCL11A was associated with red blood cell disorders. The 6q QTL contains
single-nucleotide polymorphisms In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ...
distributed across three
linkage disequilibrium Linkage disequilibrium, often abbreviated to LD, is a term in population genetics referring to the association of genes, usually linked genes, in a population. It has become an important tool in medical genetics and other fields In defining LD, it ...
blocks, in an intergenic region between MYB and
HBS1L HBS1 like translational GTPase is a protein that in humans is encoded by the HBS1L gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that ...
. Thain showed that this interval contains regulatory sequences. She has investigated how QTL regulates the expression of MYB and HBS1L. These two QTLs (6q and 2p), and a single-nucleotide polymorphism on the
HBB Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the ''HBB'' gene, which along with alpha globin ( HBA), makes up the most common form of haemoglobin in adult humans, hemoglo ...
cluster account for around half of the variability in HbF levels. She established that these two variants had spread from Africa into almost all human populations. By delineating the genetics of foetal haemoglobin control in adults, she hopes to explain the trait variance in adults as well as identifying the loci and sequences of variants. She believes that by identifying the HbF QTLs she will be able to improve patient management through the development of novel therapies, more sophisticated genetic counselling and better predictions of disease severity. These therapies may include approaches to activate the BCL11A gene. By trying to find the relationships between genotypes and phenotypes, Thein has helped with
DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
diagnostics in the
haemoglobinopathies Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive ...
. Sickle cell disease occurs because rigid strands form inside
red blood cells Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cel ...
, destroying their structure and resulting in the formation of sickled cell shapes. Thein is working on therapeutic agents that can work against this polymerisation, stopping the cells changing shape. Thein has served as Chair of the European Hematology Association working group on red blood cells. She has been involved with the teaching of their programs on haematology. She moved to the
National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
as Senior Investigator and Chief of the new NIH Sickle Cell Branch in 2015.


Awards and honours

* 2001 Elected Fellow of the
Royal College of Pathologists The Royal College of Pathologists (RCPath) is a professional membership organisation. Its main function is the overseeing of postgraduate training, and its Fellowship Examination (FRCPath) is recognised as the standard assessment of fitness to p ...
* 2001 Elected Fellow of the
Royal College of Physicians The Royal College of Physicians of London, commonly referred to simply as the Royal College of Physicians (RCP), is a British professional membership body dedicated to improving the practice of medicine, chiefly through the accreditation of ph ...
* 2003 Elected Fellow of the
Academy of Medical Sciences The Academy of Medical Sciences is an organisation established in the UK in 1998. It is one of the four UK National Academy, National Academies, the others being the British Academy, the Royal Academy of Engineering and the Royal Society. Its ...
* Elected Fellow of the Academy of Life Sciences for Chinese in the UK * 2024
Shaw Prize The Shaw Prize is a set of three annual awards presented by the Shaw Prize Foundation in the fields of astronomy, medicine and life sciences, and mathematical sciences. Established in 2002 in Hong Kong, by Hong Kong entertainment mogul and p ...
in Medicine * 2025 Elected
Fellow of the Royal Society Fellowship of the Royal Society (FRS, ForMemRS and HonFRS) is an award granted by the Fellows of the Royal Society of London to individuals who have made a "substantial contribution to the improvement of natural science, natural knowledge, incl ...


Selected publications

* * * Thein is an editor for ''
Blood Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood is com ...
'', ''Annals of Haematology'', ''Hemoglobin'', and the ''
American Journal of Hematology ''American Journal of Hematology'' is an academic journal devoted to the coverage of blood diseases. It has been published since 1976. The editor-in-chief is Carlo Brugnara (Harvard Medical School). According to the ''Journal Citation Reports'', ...
''. She is feature editor of the ''Sickle Blood Hub'', an online space for the journal ''Blood''.


References

{{DEFAULTSORT:Thein, Swee Lay University of Malaya alumni Academics of King's College London Malaysian women academics Malaysian women scientists Malaysian hematologists Hematologists Living people Year of birth missing (living people) 21st-century women physicians Women hematologists 21st-century women scientists National Institutes of Health people Fellows of the Royal College of Pathologists Fellows of the Royal College of Physicians Fellows of the Academy of Medical Sciences (United Kingdom) Women medical researchers Fellows of the Royal Society