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

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 genesthe hemoglobin Toms River mutation.

Scientists have identified hundreds of mutations in genes that carry instructions for producing hemoglobinthe 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" pathworking 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."


'/>"/>

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

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:2/3/2017)... 3, 2017  Texas Biomedical Research Institute announced that its ... Schlesinger as the Institute,s new President and CEO. Dr. ... 31, 2017. He is currently the Chair of the Department ... for Microbial Interface Biology at Ohio State University. ... President and CEO of Texas Biomed," said Dr. James ...
(Date:2/2/2017)... JACKSONVILLE, Fla. , Feb. 2, 2017 /PRNewswire/ ... ), a clinical-stage immuno-oncology company specializing in the ... vaccines for the treatment of cancer and metastatic ... multi-gram scale-up and GMP manufacturing of a second ... T-cell vaccine targeting folate receptor alpha. The manufactured ...
(Date:2/2/2017)... , Feb. 1, 2017  Central to ... and meaningful advances worldwide, The Japan Prize Foundation ... Prize, who have pushed the envelope in their ... and Communication. Three scientists are being recognized with ... achievements that not only contribute to the advancement ...
Breaking Biology News(10 mins):
(Date:2/23/2017)...  Imanis Life Sciences announced today the launch ... viruses for virotherapy research. These viruses are licensed ... vaccinia virus-based technology platform for research use. ... partnership with Genelux to offer researchers, for the ... in research," said Dr. Kah Whye Peng ...
(Date:2/23/2017)... , ... February 23, 2017 , ... The Greater ... a new partnership with Compass Research . GGI's mission is to advance global ... to a child in need in honor of each clinical trial volunteer. The vision ...
(Date:2/22/2017)... -- Aratana Therapeutics, Inc. (NASDAQ: PETX), a pet therapeutics company focused ... for companion animals, will host a live conference call on ... financial results from the fourth quarter and full year ended ... may access the audio webcast or use the ... ...
(Date:2/22/2017)... (PRWEB) , ... February 22, ... ... Collaborative (TOPEC), the leading medical education provider of women’s health, primary ... by the Accreditation Council for Continuing Medical Education (ACCME). ACCME’s Accreditation with ...
Breaking Biology Technology: