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!
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy