Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Hematologist discovers, names the 'Toms River' blood mutation in N.J. family

17.06.2011
At the Children's Hospital of Philadelphia, studying a 'blue baby' sheds light on basic biology

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!
Further information:
http://www.chop.edu

More articles from Life Sciences:

nachricht 'Y' a protein unicorn might matter in glaucoma
23.10.2017 | Georgia Institute of Technology

nachricht Microfluidics probe 'cholesterol' of the oil industry
23.10.2017 | Rice University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Salmonella as a tumour medication

HZI researchers developed a bacterial strain that can be used in cancer therapy

Salmonellae are dangerous pathogens that enter the body via contaminated food and can cause severe infections. But these bacteria are also known to target...

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

3rd Symposium on Driving Simulation

23.10.2017 | Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

 
Latest News

Microfluidics probe 'cholesterol' of the oil industry

23.10.2017 | Life Sciences

Gamma rays will reach beyond the limits of light

23.10.2017 | Physics and Astronomy

The end of pneumonia? New vaccine offers hope

23.10.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>