Anemia in the pediatric patient

Gray Platelet Syndrome: Symptoms, Causes, Treatment, More

Gray platelet syndrome is an inherited disease that can cause mild to moderate bleeding. People with this condition tend to bruise easily, experience nosebleeds, and may have increased surgical bleeding.

Gray platelet syndrome gets its name from how the platelets in people with this condition appear under a microscope. Platelets are specialized blood cells that allow your blood to clot and stop bleeding.

Many conditions can cause blood clotting problems that range from mild to life threatening. Gray platelet syndrome tends to cause mild to moderate bleeding. It usually doesn't affect life span but can lead to serious complications for some people, such as spleen rupture.

Read on to learn more about this rare condition, including its causes, symptoms, and treatment options.

Gray platelet syndrome was first described in medical literature in 1971. It's an inherited condition, meaning it develops when you receive associated genes from your parents. It's been linked to mutations in the NBEAL2 gene.

NBEAL2 seems to code for the formation of special sacs inside platelets called alpha-granules. Proteins in these sacs help platelets stick together and help seal off damaged blood vessels.

Gray platelet syndrome seems to be inherited in a recessive pattern, meaning you only develop the condition if you receive an abnormal copy of an associated gene from both parents.

According to researchers in a 2022 case study, only 60 cases of gray platelet syndrome have been reported in medical literature.

Gray platelet syndrome may lead to serious bleeding for some people, especially during surgery or from severe injuries.

People with gray platelet syndrome often develop a condition called myelofibrosis, in which scar tissue forms in the bone marrow that produces blood cells. To compensate, your spleen may start producing more blood cells, which may lead to an enlarged spleen.

One rare case of spleen rupture was reported in a 15-year-old as the presenting sign of gray platelet syndrome.

Biomedical Engineer Explores New Use For Synthetic Platelets: Treating ...

Even as biomedical engineer Anirban Sen Gupta refines artificial platelets to stem traumatic bleeding, he and his colleagues are seeking new uses for their synthetic solution.

The latest application to show promise involves providing synthetic platelets to treat a genetic condition that prevents blood from clotting, Von Willebrand disease (VWD). The most common of all bleeding disorders, VWD is found in up to 1% of the U.S. Population (roughly 3 million people), according to the Centers for Disease Control and Prevention.

"There simply hasn't been any study yet using our technology for treating genetic blood disorders, although it's something we've wanted to explore for some time," said Sen Gupta, the Leonard Case Jr. Professor of Engineering at the Case School of Engineering. "Almost all our work so far has been in heavy traumatic bleeding, but we often ask ourselves, 'Who else could we help?'"

"There is a lot of work ahead on this, but it's very exciting," Sen Gupta said. "We've shown that it can work, but we'll have to continue to work it out in appropriate animal models and someday human clinical trials."

Treating VWD requires injecting patients with a lab-created form of the protein, or a drug to stimulate the protein's production. In healthy people, VWF allows platelets to attach to a bleeding injury site to help them clot.

Sen Gupta's collaborators include Cécile Denis and Peter Lenting, directors of research at INSERM (Institut National de la Santé et de la Recherche Médicale) in Kremlin-Bicêtre Hospital in France; and Julie Rayes, associate professor of cardiovascular sciences at the University of Birmingham, England.

The research recently appeared in the American Society of Hematology journal Blood.

For more than a decade, Sen Gupta has pioneered research in artificial platelet systems and various platelet-inspired therapeutic technologies.

Those efforts include the licensing of a synthetic platelet technology known as SynthoPlate, by Haima Therapeutics, a biotechnology company Sen Gupta co-founded in 2016.  

Earlier this year, Case Western Reserve announced Sen Gupta's role in a four-year, $46 million Defense Advanced Research Projects Agency (DARPA) project being led by the University of Maryland School of Medicine and involves multiple academic institutions and industry partners.

What Are Blood Disorders? - Everyday Health

To diagnose a blood disorder, your provider will do a physical exam, review your medical history and ask about your symptoms.

Diagnostic tests may include:

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Blood tests: These can check for the number, volume, size, shape, and type of cells in the blood. These tests can also be used to check the function of different organs, such as the liver and kidneys — information that can be used later to determine the best treatment for your condition.

Red blood cell tests may include a hemoglobin test or hematocrit test; a low count or percentage may be caused by a type of anemia.

White blood cells are an important part of the immune response. Levels that are too low or too high may indicate an infection or a type of cancer.

Platelets help to make blood clots and control bleeding. Tests to evaluate your platelet health may include a platelet count, mean platelet volume, which measures the average size of the platelets, or a peripheral blood smear, which will examine the platelets under a microscope to look for any abnormalities.

Blood tests can also look for chromosome changes that can help classify your condition. If you have a condition that requires a blood transfusion or bone marrow transplant, blood tests are used to check that you and your donor are compatible.

Bone marrow tests and tests on other tissues: Because stem cells in the bone marrow are responsible for making blood cells, tests of the marrow can tell doctors more about your condition and the health of your blood.

Some blood disorders directly affect other organs, and so samples make be taken from the lymph nodes, liver, skin, spinal cord, or lungs to make a diagnosis.

A thin, hollow needle is used to remove a sample of bone marrow liquid or tissue, typically from the pelvis or breastbone.

Imaging tests: Tests like ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET) may be used to help diagnose blood disorders.

Genetic testing: People who have a family history that includes blood disorders may choose to have genetic testing. This can tell you if you have a higher risk of certain conditions or if you carry a specific mutated gene that you could pass on to your child.

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