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

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
Children's Hospital of Philadelphia

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:
(Date:3/29/2017)... , March 29, 2017  higi, the health ... in North America , today announced ... and the acquisition of EveryMove. The new investment and ... set of tools to transform population health activities through ... lifestyle data. higi collects and secures data ...
(Date:3/24/2017)... The Controller General of Immigration from Maldives Mr. Mohamed ... received the prestigious international IAIR Award for the most innovative high security ... ... Maldives Immigration Controller General, ... picture on the right) have received the IAIR award for the "Most ...
(Date:3/23/2017)... Research and Markets has announced the addition of the ... to 2025" report to their offering. ... The Global Vehicle Anti-Theft System Market ... the next decade to reach approximately $14.21 billion by 2025. ... for all the given segments on global as well as regional ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... Philadelphia, PA (PRWEB) , ... October 10, 2017 ... ... University City Science Center’s FirstHand program has won a US2020 STEM Mentoring Award. ... accept the award for Excellence in Volunteer Experience from US2020. , US2020’s mission ...
(Date:10/10/2017)... ... 10, 2017 , ... The Pittcon Program Committee is pleased ... scientists who have made outstanding contributions to analytical chemistry and applied spectroscopy. Each ... leading conference and exposition for laboratory science, which will be held February 26-March ...
(Date:10/9/2017)... , ... October 09, 2017 ... ... on October 5, 2017, in the medical journal, Epilepsia, Brain Sentinel’s SPEAC® ... gold standard, video EEG, in detecting generalized tonic-clonic seizures (GTCS) using surface ...
(Date:10/6/2017)... ... October 06, 2017 , ... ... lunch discussion and webinar on INSIGhT, the first-ever adaptive clinical trial for glioblastoma ... Cancer Institute. The event is free and open to the public, but registration ...
Breaking Biology Technology: