sickle cell disease

UConn Health, Partners Pilot Sickle Cell ID

Hand holds sickle cell ID card


UConn Health, Connecticut Children’s Medical Center, and the American Red Cross have created an identification card for individuals with sickle cell disease, to ensure patients in need are properly treated at any hospital they might visit.

The New England Sickle Cell Institute at UConn Health and the Hemoglobin Disorders Clinic at Connecticut Children’s treat a combined 500-600 patients with sickle cell disease, a group of inherited red blood cell disorders that involve oxygen-carrying hemoglobin turning from a normal round shape to a crescent, or sickle, shape. The sickle-shaped cells cause blockages that prevent the flow of oxygen in blood vessels and can be extremely painful.

According to David Rosinski, Director of Cardiovascular Perfusion at UConn Health, Connecticut Children’s, and the Heart Center of Greater Waterbury, when patients have to be seen at centers other than the ones where they are treated, they are often thought to be simply looking for pain medication.

Many hospitals decide to perform a quick transfusion on these patients, which can make it harder to properly treat the patient through apheresis later.

Sickle cell patients ideally receive blood during apheresis from like donors, Rosinski says. For example, African American sickle cell patients should, if possible, receive blood from African American donors, because there are certain antibodies present in the blood cells that are specific to their genetic profiles.

The card indicates where the patient is being treated and provides contact information for the UConn and Connecticut Children’s programs and blood banks so doctors can confirm proper next steps.

Lab Notes – Spring 2016

Studying Dirty Diapers for Clues About Premature Babies

A team of UConn researchers is working on minimizing stress for premature babies by analyzing one of the most extensive sources of information these patients provide: poop. Fully one in nine babies born in the U.S. arrives prematurely, and the measures necessary to keep them alive are numerous, often painful, and may have long-term effects, including lower IQs and neurodevelopmental challenges. In an ongoing study by nursing professor Xiaomei Cong and microbiologist Joerg Graf, preemies’ fecal samples are collected to study each patient’s microbiome. The researchers chart the patterns in the gut microbiome and compare them to the babies’ daily procedures, medications, feeding, and parental contact, looking for correlations between microbiome dynamics and babies’ outcomes.


Researchers Pinpoint Bone Disease-causing Gene

Fragile bones are usually an old person’s affliction, but sometimes children are born with them. Hajdu-Cheney is a particularly terrible form of inherited bone disease, in which sufferers’ bones begin to soften and fracture early, often in childhood. Now, a team of researchers led by Dr. Ernesto Canalis, director of the Center for Skeletal Research at UConn Health, has shown in mice that a specific gene can cause the disease. Overabundant bone-absorbing cells may be causing the characteristic bone loss, the researchers reported in the Jan. 22 issue of The Journal of Biological Chemistry. The researchers hope to find a potential treatment, perhaps by slowing the development or activity of the cells that absorb old bone.


Researchers up one in antibacterial cat-and-mouse game

UConn pathobiologists have discovered that vibrio bacteria have a special protein that sounds the alarm when it detects antibiotics in the beta-lactams family, such as penicillins and cephalosporins. The protein, called histidine kinase, alerts the bacteria to produce an antibiotic-fighting enzyme called beta-lactamase. The researchers reported their discovery in the Feb. 1 edition of Proceedings of the National Academy of Sciences. They don’t yet know the mechanism for how the protein senses antibiotics, but now that they know it exists, they will work on a way to disable it by developing drugs that can desensitize the bacteria — so that they don’t respond to the alarm.


Diagnose sickle cell disease with your phone

A few drops of blood inserted into a tube on a smartphone could be all that’s necessary to diagnose sickle cell disease, UConn biomedical engineers reported in Scientific Reports on Oct. 22. A hereditary disease, sickle cell affects people across Africa and the U.S. If undiagnosed, it can cause silent strokes and life-long damage, but current techniques for screening newborns are cumbersome and require specialized training. UConn’s Stephanie Knowlton and Savas Tasoglu, working with colleagues at Yale, MIT, and Harvard, have invented a sickle cell testing device that can be plugged into an Android phone and easily interpreted by a non-specialist. They’re now working on expanding the device to work for other diseases.

A device to analyze blood for sickle cell disease