A newborn described as a "happy blue baby" because of her bluish skin color but healthy appearance made a small mark in medical history when one of her physicians discovered something new in her genes—the hemoglobin Toms River mutation.
Scientists have identified hundreds of mutations in genes that carry instructions for producing hemoglobin—the four-part protein that carries oxygen in everyone's red blood cells. By tradition, whoever discovers a mutation in hemoglobin genes names it after the hometown of the patient, said pediatric hematologist Mitchell J. Weiss, M.D., Ph.D., of The Children's Hospital of Philadelphia.
Weiss and colleagues published a brief report on the mutation in the May 12 issue of the New England Journal of Medicine. He collaborated with biochemist John S. Olson, Ph.D., of Rice University.
Fortunately, this particular mutation, which causes blue coloration (cyanosis) and anemia, has only mild, transient effects, and disappeared within a few months of birth, as the baby's hemoglobin made a normal transition from fetal hemoglobin to a different form of hemoglobin found in older children and adults.
Often, the researchers at Children's Hospital follow a "bench to bedside" path—working to translate scientific findings into treatments of benefit to children's health. "This was sort of a bedside-to-bench event, in which exploration of a patient's condition led us to better knowledge of biology," said Weiss, who has investigated hemoglobin disorders for much of his career in medicine.
Weiss added, "We started with an unusual case. The baby had a blue color, but otherwise appeared healthy. We were able to rule out more common, serious causes, such as heart or lung disease. Then we learned some family history when the grandmother mentioned that the child's father also had experienced temporary cyanosis as a newborn."
Weiss had a clinical DNA diagnostics lab at Children's Hospital, directed by Catherine A. Stolle, Ph.D., perform DNA sequencing on the infant's and the father's blood. The analysis revealed that a gene carrying the code for a subunit of hemoglobin had a rare mutation, not previously identified, which the study team named after Toms River, N.J., where the patient lives.
Further biochemical analysis provided new scientific knowledge of blood disorders.The Toms River mutation that leads to a different amino acid than that found in normal fetal hemoglobin fortunately had limited, temporary effects in the infant. When a similar chemical substitution occurs in the hemoglobin subunit gene that is expressed in adults, the health effects can be more sustained and serious.
"While this finding will not broadly change the way we do medicine, it helped us care for the child and counsel this family, added Weiss. "Perhaps this report may remind clinicians who encounter a healthy blue baby to consider explanations that don't involve a serious underlying disorder. In an unusual but mild case like this, an accurate diagnosis can spare babies and families unnecessary concern and inappropriate medical testing."
Weiss holds the Jane Fishman Grinberg Endowed Chair in Stem Cell Research at Children's Hospital. The researchers are supported by funding from the National Institutes of Health, the Welch Foundation, the Abramson Cancer Center, the Center of Excellence in Environmental Toxicology at the University of Pennsylvania, and the DiGaetano family.
About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.
John Ascenzi | EurekAlert!
Bare bones: Making bones transparent
27.04.2017 | California Institute of Technology
Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
27.04.2017 | Life Sciences
27.04.2017 | Physics and Astronomy
27.04.2017 | Earth Sciences