Navigation Links
Hematologist discovers, names the 'Toms River' blood mutation in N.J. family
Date:6/16/2011

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."


'/>"/>

Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

Page: 1 2

Related biology news :

1. Entomological Society of America names 2008 award winners
2. American Library Association names NJIT prof’s Whale Music book a top ten
3. WCC Smart Search and Match Names Rudie Lion - Product Marketing Manager
4. WCC Smart Search and Match Names Rudie Lion - Product Marketing Manager
5. WCC Smart Search & Match Names Tarvinder Sembhi as VP Sales for the ID Market
6. Names turn preschoolers into vegetable lovers
7. AIBS names 2009 emerging public policy leaders
8. UC Riverside researcher names lichen after President Barack Obama
9. Impact Factor names Cell top research journal
10. Technology Review names Carnegie Mellons Treuille as a top young innovator
11. Entomological Society of America names 2009 Fellows
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/19/2014)... LAS VEGAS , Dec. 18, 2014   ... platform built for the post-password and Internet of Things ... additional seed funding. The venture round was led by ... Pantera Capital, Rimrock Venture Partners, VegasTechFund, and others.  LaunchKey ... the new funding to expand its team and bring ...
(Date:12/17/2014)... , Dec. 15, 2014 The Defense ... it easier to detect and prevent counterfeit microcircuits ... Today the agency started performing an in-house microcircuit ... validate the authenticity of purchased microcircuits while increasing ... quality control measures will be conducted at DLA,s ...
(Date:12/17/2014)... Dec. 16, 2014 Valencell, a leader in ... biometric technology to industry leaders such as Intel, Jabra, ... validated, biometric wearable products. These products will be showcased ... Las Vegas . "Our ... flexible and robust – with the clinical data to ...
Breaking Biology News(10 mins):LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 3Defense Logistics Agency Launches DNA Marking Capability to Strengthen Microcircuit Supply Chain 2Defense Logistics Agency Launches DNA Marking Capability to Strengthen Microcircuit Supply Chain 3Valencell PerformTek Biometrics Power the Most Accurate Wearables at CES 2015 2
... mysteries of modern coral reefs is how they evolved from ... in the record of coral evolution. This evolutionary gap ... and changes in the Earth,s climate between 1 and 2 ... went extinct, and the modern reef corals emerged. To ...
... Bioinformatics Laboratory at the University of Illinois in collaboration ... probe the world of proteins for answers to questions ... formed from chains of amino acids and fold into ... sciences professor Gustavo Caetano-Anolls, very little is known about ...
... a new study carried out at the Norwegian Institute of ... supplements from four weeks before conception to eight weeks into ... birth to children with childhood autism (classic autism). "It ... before conception to eight weeks into pregnancy," states Pl Surn, ...
Cached Biology News:University of Miami geologists to address the mystery of an evolution gap in reef corals 2Untangling life's origins 2Untangling life's origins 3Folic acid lowers risk of autism 2
(Date:12/19/2014)... MA (PRWEB) December 18, 2014 Reports ... in the United States suffer from one or more ... asthma, or cancer. Medication can address some of these ... daily activities that many sufferers face. While implanted nerve ... and stimulate the whole nerve, which can induce side ...
(Date:12/19/2014)... The empty capsules market is experiencing growth ... technological innovations in the empty capsules market. The ... growth of the empty capsules market. , Get ... of Report , The report will enrich both ... to gauge the pulse of the market which ...
(Date:12/19/2014)... 18, 2014 Egenix, Inc. is pleased to announce ... of the Board, to succeed Donald Fresne ; Mr. ... continue as a member of the Board.  In recognition of ... the company over almost twenty years, the Board designated Mr. ... Directors has established a Search Committee to find a suitable ...
(Date:12/17/2014)... 2014 The Activated Carbon Manufacturing ... is why IBISWorld updated its original industry research report. ... from an intensified focus on environmental policy. Over the ... standards for power plants and a range of other ... Industry Analyst Sarah Kahn, “a range of downstream industrial ...
Breaking Biology Technology:Draper Wins GSK Funding for Smaller, Smarter Implantable Devices 2Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 2Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 3Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 4Activated Carbon Manufacturing in the US Industry Market Research Report Has Been Updated from IBISWorld 2Activated Carbon Manufacturing in the US Industry Market Research Report Has Been Updated from IBISWorld 3
... Symbol: MS, EDMONTON, May 5 /PRNewswire-FirstCall/ - BioMS ... of multiple sclerosis (MS), will hold,its Annual General Meeting ... 4:00,p.m. (ET)., A live audio webcast of the ... connect at least ten minutes prior to the,conference call ...
... Cequent Pharmaceuticals, a,pioneer in the development of ... and treat human disease, announced that Michael ... of directors. Dr. Taylor is,president and chief ... Massachusetts-based biotechnology company developing novel,classes of therapeutics ...
... Wednesday, May 7th at 9:30am EDT, NEW YORK, ... today announced that Michael S. Weiss, the Company,s,Chairman and ... Bank 33rd Annual Health Care Conference in Boston, Massachusetts., ... Wednesday, May 7th at,9:30am EDT, will be webcast live ...
Cached Biology Technology:BioMS Medical announces conference call and web cast for Annual General Meeting 2Michael D. Taylor, Ph.D., Joins Cequent Pharmaceuticals' Board of Directors 2Keryx Biopharmaceuticals to Present at the Deutsche Bank 33rd Annual Health Care Conference 2
Polio component type I...
... 'A New Concept in Microarrays: Biomedical ... chip technologies GmbH (Jena, Germany) have collaborated ... new CLONDIAG ArrayTube System. The DNAscope ... technology. The new DNAscope AT automatically reads ...
... AccuSpot automates LC micro-fractionation, spotting and ... AccuSpot system, LC eluent can be ... plates, in trace amounts. This allows ... for MALDI-TOF-MS measurements. When used in ...
... PF 2D is an automated, two-dimensional fractionation ... mixtures. Part of Beckman Coulters ProteomeLab ... results in just hours. The system ... in cell lysates, addressing a key challenge ...
Biology Products: