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:1/22/2015)... , Jan. 22, 2015 Research and Markets ... of the "Global Wearable Technologies Market and ... Overview, Trends and Forecast 2014-2020" report to ... are smart devices that can be worn on ...
(Date:12/22/2014)... , Dec. 22, 2014  NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce market, announces ... Apollo Robbins for the 2015 International CES debut of ... Robbins will be at the NXT-ID booth January 6th ...
(Date:12/19/2014)... , Dec. 18, 2014 Research and Markets ... "Micro Market Monitor: North America Perimeter Security Systems Market" ... The North American perimeter security market is ... to 2019. Although the U.S. market holds a larger share ...
Breaking Biology News(10 mins):Global Wearable Technologies Market and Applications, Opportunities, Industry Analysis, Segmentation, Size, Growth, Share, Overview, Trends and Forecast 2014-2020 2NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 2NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 3NXT-ID Hires Master Pickpocket and Security Consultant Apollo Robbins for Wocket Smart Wallet CES 2015 Debut 4Micro Market Monitor: North America Perimeter Security Systems Market (Intrusion Detection Sensor, Video Surveillance, Communication/Alarm and Notification, Access Control System) 2Micro Market Monitor: North America Perimeter Security Systems Market (Intrusion Detection Sensor, Video Surveillance, Communication/Alarm and Notification, Access Control System) 3
... It is the first time that a clear link has ... at birth and risk of Autism Spectrum Disorder and follows ... in Sweden. , The research, led by The University of ... poorly grown, low weight babies appear more susceptible to the ...
... 2013 -- A test that measures the expression levels ... effectively differentiate between patients who are at higher and ... the body more than five years after diagnosis, researchers ... individual risk prediction for women with these cancers is ...
... BE, 2 May 2013 -- An important new study ... much measurement variation influences gene expression profiles of breast ... which gene expression measurements may benefit from pooling of ... 5th IMPAKT Breast Cancer Conference in Brussels, Belgium. ...
Cached Biology News:Bigger birth weight babies at greater risk of autism 2Gene expression test distinguishes btw breast cancer patients at high & low risk of late recurrence 2Gene expression test distinguishes btw breast cancer patients at high & low risk of late recurrence 3Study reveals magnitude of variation in gene expression measurements within breast cancers 2Study reveals magnitude of variation in gene expression measurements within breast cancers 3
(Date:1/23/2015)... (PRWEB) January 23, 2015 Biofertilizers stimulate ... such as nitrogen and phosphorous through the activities in ... biofertilizers is increasing due to the stress on reducing ... fertilizers. , The report defines and segments the bio ...
(Date:1/23/2015)... 23, 2015 Portal Solutions , a ... on Microsoft Office 365 and SharePoint platforms , today ... program for being one of the region’s fastest-growing mid-sized companies ... growth. , “To be recognized a second year in ...
(Date:1/22/2015)... Md. (PRWEB) January 22, 2015 ... its new UV-1280 multipurpose UV-visible spectrophotometer. Offering wavelength ... high-quality instrument is ideal for applications in a ... life science. , The user-friendly UV-1280 enables intuitive ...
(Date:1/22/2015)... Bedford, NH (PRWEB) January 22, 2015 ... offers a table top laboratory homogenizer, the PandaPLUS 2000, ... nanoparticles, nanodispersions, nanoemulsions , and cell disruption . ... processing dairy products, fruit juices, liquid food, food additives ...
Breaking Biology Technology:Biofertilizers Market Expected to Reach $1,649.7 Million by 2019 - New Report By MarketsandMarkets 2Biofertilizers Market Expected to Reach $1,649.7 Million by 2019 - New Report By MarketsandMarkets 3Biofertilizers Market Expected to Reach $1,649.7 Million by 2019 - New Report By MarketsandMarkets 4Washington SmartCEO Announces Portal Solutions as 2015 Future 50 Award Winner Second Year in a Row 2Washington SmartCEO Announces Portal Solutions as 2015 Future 50 Award Winner Second Year in a Row 3Shimadzu’s New Monitored Single-Beam UV-Vis Spectrophotometer Offers Comprehensive Measurement Options in a Compact Body 2GEA Niro Soavi Announces the PandaPLUS 2000 Homogenizer for Processing New Applications for Nanoemulsions and Cell Disruption 2
... ... In the India, CJP is all set to hold 5 Days ... The JatrophaWorld Training Programme 2010-- the Most Authoritative platform shall introduce ... and application technologies, including utilization of Jatropha Crude Oil and Seedcake; ...
... Calif. , May 24 Epeius Biotechnologies Corporation ... study entitled "A Phase I/II Study of Intravenous Rexin-G and ... Annual Meeting on June 6, 2010 . The presentation ... Chairman of the Cancer Institute and Bioethics Committee-Philippine General Hospital, ...
... BEIJING , May 24 /PRNewswire-Asia-FirstCall/ -- Dehaier ... assembly, marketing and,sale of medical products in China , announced today ... . Dehaier,is authorized to distribute all models of this product. , ... HEYER Cumulus ...
Cached Biology Technology:JatrophaWorld Training Programme Slated for India September 20-24, 2010 2JatrophaWorld Training Programme Slated for India September 20-24, 2010 3JatrophaWorld Training Programme Slated for India September 20-24, 2010 4Tumor-Targeted Nanoparticle-based Gene Delivery Provides Evidence of Therapeutic Vaccination in Patients with Metastatic Cancer (ASCO 2010) 2Tumor-Targeted Nanoparticle-based Gene Delivery Provides Evidence of Therapeutic Vaccination in Patients with Metastatic Cancer (ASCO 2010) 3Dehaier Medical Systems Continues Product Line Expansion. Signs Exclusive Distribution Agreement with HEYER Medical for Respiratory Products in China 2Dehaier Medical Systems Continues Product Line Expansion. Signs Exclusive Distribution Agreement with HEYER Medical for Respiratory Products in China 3Dehaier Medical Systems Continues Product Line Expansion. Signs Exclusive Distribution Agreement with HEYER Medical for Respiratory Products in China 4
Anti-TNKS2 Polyclonal AntibodyOther Sub-Family: not assigned-Other Applications: ELISA, Western Blot...
... Membrane Protein 2, Synaptobrevin 2). ... homology with any other known ... expected that the antibody will ... multata and bovine due to ...
... locus encodes two unrelated proteins both of ... the cell cycle in a p53-dependent manner. ... rapid degradation of mdm2 proteinrequired for mdm2 ... This interaction is mediated by the ...
human Exodus-2 Research Focus: cytokine/growth factor Storage Temperature: -20C Shipping Temperature: 4C...
Biology Products: