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Researchers Identify Genetic Factors Associated With Gestational Thrombocytopenia
Researchers evaluated genetic influences involved in platelet count reduction with pregnancy and they identified genetic factors that appeared associated with gestational thrombocytopenia (GT). The study's findings were reported in the journal Blood.
The analysis was based on genome-wide association studies (GWAS) using sequencing data obtained through noninvasive prenatal testing of pregnant individuals treated at either of 2 hospitals in China. Platelet counts also were measured during the 3 trimesters of pregnancy, delivery, and the postpartum period. Using GWAS in conjunction with platelet counts, the researchers aimed to identify genetic factors related to plate count reduction and the development of GT (platelet count, <150 x109/L) and severe GT (platelet count, <100 x109/L).
The analysis included data from 100,186 individuals with at least 1 platelet count available during pregnancy. GWAS related to platelet count was conducted during the 3 pregnancy trimesters in 72,816 individuals, as well as from the time of delivery for 33,533 pregnancies and in the postpartum period for 34,457 pregnancies.
In the GWAS of platelet count with pregnancy, there were 138 independent, genome-wide significant loci identified, among which 51 loci were linked to platelet count across all 3 trimesters. A total of 37 genome-wide significant loci were associated with platelet counts during delivery, and 32 loci were associated with platelet counts in the postpartum period.
Previously unrecognized time-dependent genetic effects on platelet counts during pregnancy were observed with variants in PEAR1 and CBL genes. Among certain key single nucleotide polymorphisms examined, rs12041331-G in PEAR1 showed stronger associations with platelet counts later in pregnancy, while rs12276986-T in CBL showed greater associations with platelet counts earlier in pregnancy. Further analyses identified connections between PEAR1 variants and faster reductions in platelet counts during pregnancy and postpartum.
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Overall, to the best of our knowledge, this study represents the first investigation into the genetic basis of platelet counts in pregnant women and GT, revealing a robust and strong association between platelet count and the PEAR1 locus at 1q23.1.
Additionally, the researchers performed GWAS focused on development of GT or severe GT. These analyses involved 11,138 cases of GT and 906 cases of severe GT, in comparisons with data obtained from control individuals. The most significant association with GT was observed with variation in PEAR1, and variants in PEAR1 and TUBB1 were most significantly associated with severe GT. The highest degree of association with severe GT appeared to be with PEAR1 at 1q23.1.
"Overall, to the best of our knowledge, this study represents the first investigation into the genetic basis of platelet counts in pregnant women and GT, revealing a robust and strong association between platelet count and the PEAR1 locus at 1q23.1," the researchers wrote in their report.
This article originally appeared on Hematology Advisor
What's To Know About Anemia Rash?
Anemia rash, while not a medical term, can sometimes refer to small red pinpricks on the skin, often on the lower legs. Along with a rash, people may experience bruises and fatigue.
These pinpricks are usually called petechiae or purpura, depending on their size. It is most commonly attributed to a low platelet count in aplastic anemia or with certain infections.
This article explores many reasons for a low platelet count and the accompanying rash.
Some types of anemia can hinder or even stop blood cell production in the bone marrow. Bone marrow is a spongy tissue inside the bones that produces stem cells. These stem cells are red blood cells, white blood cells, and platelets.
Platelets are blood cell fragments that stick together and stop bleeding. When platelet counts are too low, the blood cannot clot normally, and this causes superficial bleeding under the skin.
The most common is aplastic anemia, also known as bone marrow failure. A person can develop or inherit aplastic anemia.
Aplastic anemia occurs when there is a failure in the bone marrow.
Acquired aplastic anemiaAplastic anemia is a rare, serious blood disorder in which the bone marrow stops producing platelets, red blood cells, and white blood cells. It mainly affects adolescents, young adults, and the elderly.
Bone marrow damage can be temporary or permanent and can occur due to.
This damage can cause aplastic anemia to develop. If the condition's cause is unknown, it is idiopathic aplastic anemia.
A low platelet count can make a person more susceptible to bruising and cause petechiae.
Inherited aplastic anemiaSeveral rare, inherited conditions may cause aplastic anemia. The most common of these is Fanconi anemia.
Approximately 90% of people with Fanconi anemia will eventually experience bone marrow failure, which may cause a rash. Aplastic anemia is usually just one of the problems a person affected by Fanconi anemia will experience.
Iron deficiency anemiaIron deficiency anemia can cause the skin to become itchy (pruritus) and susceptible to bruising. Scratched and bruised skin can cause a rash-like appearance.
As the name implies, iron deficiency anemia occurs when a person has insufficient iron. This may occur due to a poor diet, blood loss, or side effects from medication.
However, unlike aplastic anemia, iron deficiency anemia does not affect platelets in the blood, but rather the production of red blood cells.
A doctor may suspect aplastic anemia if other symptoms of anemia occur along with the rash. A low platelet count that occurs with aplastic anemia may also produce other symptoms, including:
Other symptoms of anemia may include:
Aplastic anemia or bone marrow failure may also contribute to frequent or prolonged infections due to decreased white blood cell count.
A doctor will aim to identify and treat the underlying cause of the anemia rash using medical history, a physical examination, and test results.
Establishing a medical history is important to assess potential causes of bone marrow damage, especially in cases of acquired aplastic anemia. These causes may include any of the following:
A doctor will look for signs of bleeding under the skin and may feel the person's abdomen to determine whether they have an enlarged spleen. They will also ask about any previous illnesses and want to know about any medications or supplements a person takes.
A complete blood count will determine the number of blood cells, including platelets, in a blood sample. Fewer than 150,000 platelets µL is considered abnormally low. Blood tests can also help rule out other causes of bone marrow failure.
If a doctor suspects aplastic anemia, they will likely refer the person to a hematologist specializing in blood diseases and disorders.
Learn more about platelet count levels here.
Any treatment plan needs to address the underlying cause of the anemia rash and to restore the body's blood cell production.
Aplastic anemia can be classified as non-severe, severe, or very severe. This is based on a person's blood count and will help determine the treatment plan. The lower the number of blood cells, the more severe the condition.
Treatment for aplastic anemia may include:
Medication may be prescribed to achieve the following:
Outlook and recovery depend on the underlying cause of the anemia rash. Underlying damage to the bone marrow may be temporary or permanent.
Aplastic anemia, the most common underlying cause of anemia rash, is rare and serious. It can appear suddenly, or it can develop gradually. If it is left untreated, aplastic anemia may get worse over time.
Most people affected by aplastic anemia can be successfully treated, even in severe cases, although this can take time. Some may even be cured.
It is important to see a doctor when any unexplained pinprick red rash appears.
These Artificial Blood Platelets Could One Day Save Lives
When donated blood is in low supply, platelets are even scarcer. These cell fragments, which are essential for blood clotting, have a short shelf life. Whereas whole blood can be refrigerated for up to a month, platelets last for just a week at most.
"Even if you have a ton of donations, you can't bank them for long," says Ashley Brown, an associate professor in the joint biomedical engineering program at North Carolina State University and the University of North Carolina at Chapel Hill.
To address this problem, Brown and her team have created an artificial substitute that could be stored for long periods of time. In a recent paper in Science Translational Medicine, they describe using their synthetic platelets to stop bleeding and promote healing in rodents and pigs.
Natural platelets circulate in the blood and prevent or stop bleeding by forming clots. Sometimes, the body needs more of them. People with traumatic injuries, cancer, and certain chronic conditions that strip the blood of platelets often require transfusions. Typically, platelets are collected through a process called apheresis, in which a donor's blood is passed through a tube and into a machine that separates out the platelets. These are funneled into a bag, and the rest of the blood is returned to the donor.
Their limited shelf life also means they're not often stored in rural hospitals and can't be easily transported. Brown's aim is to make an alternative that's easy to store and ship that could be given to patients sooner, such as in an ambulance or on the battlefield, and regardless of blood type.
To make their synthetic platelets, Brown and her team used a squishy water-based gel called a hydrogel to form nanoparticles that mimic the size, mechanics, and shape of natural platelets. They then designed an antibody fragment that binds to fibrin, a protein that helps platelets form clots, and decorated the surface of the nanoparticles with this fibrin antibody. When an injury occurs, platelets rush to the site of damage to form a temporary plug. Fibrin also gets activated in this process and builds up at the wound site, eventually producing a clot.
To find the optimal dose of artificial platelets needed to stop bleeding, researchers tested a range of doses in mice. They then gave infusions of the artificial version to mice, rats, and pigs and compared them to animals that received natural platelets and those that were not treated with either. All the animals in the study had severe internal bleeding. They found that the synthetic platelets were able to travel through the bloodstream to the wound site to promote clotting and accelerate healing.
Healing rates were similar in animals that received synthetic platelets and those that received natural ones. Overall, both groups fared better than those in the untreated group. Interestingly, the researchers only had to use about a tenth as many artificial particles to get the same healing effects as with natural platelets. "Our mechanism of action is binding to fibrin, so it could just be that our particles are more efficient in that binding," Brown says. There's also variability in how labs prepare natural platelets that can affect their quality, which might have accentuated this difference.
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