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Clinical Laboratories and Pathology Groups

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Virginia Commonwealth University Study Determines 40% of Americans Have Liver Disease

Clinical laboratories and anatomic pathology groups should prepare for a marked increase in orders for liver disease testing

New research from Virginia Commonwealth University’s Institute for Liver Disease and Metabolic Health in Richmond shows that four out of every 10 Americans has fatty liver disease of some type, according to a news release. Forty percent of Americans is an astonishing number! The study’s findings will almost certainly lead to clinical laboratories performing more testing in support of diagnosis, treatment decision making, and patient monitoring for liver disease than currently ordered by physicians.

Hepatologist Juan Pablo Arab, MD, director of alcohol sciences at Virginia Commonwealth University (VCU), led the team that conducted the research. He noted that the driving force behind the numbers is obesity and type two diabetes.

The researchers based their study on data from the Centers for Disease Control and Prevention’s National Health and Nutrition Examination Survey, which recorded the health of more than 5,000 individuals from 2017 to 2018, Newsmax reported.

“By 2018, federal data showed that 42% of adults had some form of fatty liver disease—higher than prior estimates,” Arab’s team told Newsmax, adding that “Hispanic adults were at especially high risk … with nearly half (47%) affected.”

The scientists published their findings in Nature Communications Medicine titled, “Disparities in Steatosis Prevalence in the United States by Race or Ethnicity according to the 2023 Criteria.”

“This study highlights a significant health issue that affects a large portion of the US population, and it shows that certain groups are at a higher risk. We hope these findings will guide more targeted health interventions to reduce the burden of liver disease, especially in high-risk communities,” said Juan Pablo Arab, MD (above), hepatologist with VCU’s Institute for Liver Disease and Metabolic Health, director of alcohol sciences, and lead researcher in the VCU study, in a VCU news release. These insights can be expected to lead to guidelines calling for more clinical laboratory testing associated with the diagnosis of fatty liver disease. (Photo copyright: Virginia Commonwealth University.)

Clinical Laboratory Testing

The VCU researchers found that metabolic dysfunction-associated steatotic liver disease (MASLD), also known as nonalcoholic fatty liver disease (NAFLD), was primarily brought on by obesity and type 2 diabetes.

“Groups at greater risk for MASLD include men, adults older than 40, individuals with health insurance, those with higher body mass index, and people with other health issues like diabetes, high blood pressure, high triglycerides, and low levels of good cholesterol. Interestingly, the study found that black individuals had the lowest risk of developing MASLD compared with other groups,” the VCU news release notes.

Fatty liver disease can also be caused by excessive alcohol consumption (called alcohol-associated liver disease or ALD) or a combination of both metabolic dysfunction and moderate-to-high alcohol intake, which is called MetALD, Newsmax reported.

“Although MASLD was the most common type of liver disease found in this study, the researchers also uncovered substantial rates of MetALD and alcohol-associated liver disease. For MetALD, the study showed that men and individuals with a higher BMI [body mass index] were at a greater risk, and Asians were at lower risk. Surprisingly, the only factor that appeared to lower the risk of ALD was having health insurance, though the reasons for this are not clear,” according to the VCU news release.

On its website, Mayo Clinic notes that NAFLD is often symptomless, and that doctors typically depend on routine clinical laboratory blood test results to reach a diagnosis. Additional testing helps determine whether higher than normal liver enzymes are actually from fatty liver disease or some other condition.

Medical laboratories play a key role in facilitating the final diagnoses. According to Mayo Clinic, blood tests to identify liver disease include:

Medical imaging could also be required to reach a diagnosis, beginning with an abdominal ultrasound, Mayo Clinic added. Additionally, more precise tests may be ordered to determine the stiffness of the liver and likelihood of scarring or fibrosis. Those modalities include:

Labs will often perform these tests on the same patient multiple times as the patient’s lifestyle changes. A liver biopsy may also be required to determine severity of damage, Mayo Clinic added.

Increase in Testing

Fatty liver disease at its most severe can lead to acute liver failure and fatal kidney complications, the American Liver Foundation (ALF) reported. If symptoms appear, a patient may experience “fatigue, weakness, weight loss, loss of appetite, nausea,

abdominal pain, spider-like blood vessels, yellowing of the skin and eyes (jaundice), itching, fluid buildup and swelling of the legs (edema) and abdomen (ascites), and mental confusion,” the ALF added.

As more healthcare providers focus their attention on diagnosing and treating this potentially deadly disease, clinical laboratories and anatomical pathology groups will likely see an uptick in tests ordered by doctors moving from initial diagnoses to more detailed testing and eventually to treatment follow ups.

—Kristin Althea O’Connor

Related Information:

Fatty Liver Disease Now Affects Four in 10 US Adults

More than 40% of US Adults Have Liver Disease, with Higher Risk among Hispanics, New Study Finds

Disparities in Steatosis Prevalence in the United States by Race or Ethnicity According to the 2023 Criteria

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)

Nonalcoholic Fatty Liver Disease

Non-Alcoholic Fatty Liver Disease (NAFLD)

Phishing Remains Top Cyberattack Targeting Healthcare Organizations including Clinical Laboratories and Anatomic Pathology Groups

Clinical laboratories are particularly tasty targets for cybercriminals seeking the abundance of protect health information contained in patient electronic health records

Recent data from cybersecurity company Netwrix of Frisco, Texas, shows that 84% of healthcare organizations—including clinical laboratories and pathology groups—caught at least one cyberattack in the past year and “69% of them faced financial damage as a result.” That’s according to the company’s latest Hybrid Security Trends Report which notes that 24% of healthcare organizations are “fully cloud-based,” as opposed to just 11% of non-healthcare industries.

Phishing was the most common type of incident experienced on premises, similar to other industries. Account compromise topped the list for cloud attacks: 74% of healthcare organizations that spotted a cyberattack reported user or admin account compromise,” the Netwrix report notes.

Phishing, where cybercriminals send fake emails and texts to unsuspecting employees that trick them into providing private information, continues to be one of the most prevalent cyberthreats experienced by healthcare organizations and often serves as the catalyst for much larger and more dangerous cyberattacks.

This is particularly dangerous in clinical laboratories where as much as 80% of protected health information (PHI) in patients’ electronic health records (EHRs) is laboratory test results and other personal medical data.

“Protected health information (PHI) is one of the most expensive types of data sold on darknet forums, which makes healthcare organizations a top target for cybercriminals, said Ilia Sotnikov (above), security strategist and VP of user experience at Netwrix, in the report. Clinical laboratory patient electronic health records are particularly weighted toward PHI. (Photo copyright: Netwrix.)

Don’t Open That Email!

Typical phishing scams begin with innocent-looking emails from companies that appear to be legitimate and often contain language that implies urgent action is needed on the part of the user. These emails can be very convincing, appear to originate from reputable companies, and usually instruct users to open an attachment contained in the email or click on a link that goes to a known company website. However, the site is a fake.

Once the harmful file attachment is opened, users will be directed to download fake software or ransomware that attempts to capture the user’s personal information. When visiting a malicious website, consumers will often receive pop-ups with instructions for updating information, but the true purpose is to harvest personal data.

The federal Office of the Comptroller of the Currency (OCC) suggests the following guidelines for protecting oneself from phishing attacks:

  • Never provide any personal information to an unsolicited request.
  • If you believe the contact is legitimate, initiate a contact with the organization using verified data, usually via telephone.
  • Never provide any passwords over the phone or in response to an unsolicited Internet request.
  • Review any accounts, such as bank statements, often to search for any suspicious activity.

“Healthcare workers regularly communicate with many people they do not know—patients, laboratory assistants, external auditors and more—so properly vetting every message is a huge burden,” said IT security expert Dirk Schrader, VP of security research at Netwrix, in the report. “Plus, they do not realize how critical it is to be cautious, since security awareness training often takes a back seat to the urgent work of taking care of patients. Combined, these factors can lead to a higher rate of security incidents.”

Top 10 Brands Faked in Phishing Scams

Phishing emails often appear to be from legitimate companies to lull the recipient into a false sense of security. In a January 22 report, Check Point Research (CPR) announced its latest Brand Phishing Ranking for the fourth quarter of 2024. The report reveals the brands that were most frequently impersonated in phishing attacks by cybercriminals for the purpose of stealing personal information from consumers.

According to the CPR report, 80% of disclosed brand phishing incidents occurred within just 10 brands (listed below with each brand’s percentage of phishing attacks). They are:

The report also states that the 2024 holiday season saw a surge in phishing campaigns targeting popular clothing brands, including:

According to the report, fraudulent domains “replicated official websites to mislead shoppers with fake discounts, ultimately stealing login credentials and personal information. These fraudulent sites replicate the brand’s logo and offer unrealistically low prices to lure victims. Their goal is to trick users into sharing sensitive information, such as login credentials and personal details, enabling hackers to steal their data effectively.”

Steps Clinical Labs Can Take to Protect Patients’ PHI

Clinical laboratories and pathology groups can take precautions that minimize the risk of allowing cybercriminals access to their patients’ PHI.

“A core defense strategy is to minimize standing privileges by using a privileged access management (PAM) solution. Another is to implement identity threat detection and response (IDTR) tools to quickly block malicious actors using compromised credentials,” said Ilia Sotnikov, security strategist and VP of user experience at Netwrix, in the report.

The threat of phishing scams is a lingering issue that everyone in healthcare should be aware of and take necessary precautions to recognize and prevent having one’s PHI stolen. Clinical laboratory management should constantly remind lab personnel and contractors to be vigilant regarding fake emails and texts from well-known brands that ask for private information.              

—JP Schlingman

Related Information:

84% of Healthcare Organizations Spotted a Cyberattack within the Last 12 Months, and 69% of Them Faced Financial Damage as a Result

2024 Hybrid Security Trends Report

Microsoft is Identified as the Primary Target in Phishing Attacks, with Significant Shifts Observed in the Top 10 Rankings

Exploring Q4 2024 Brand Phishing Trends: Microsoft Remains the Top Target as LinkedIn Makes a Comeback

What is a Phishing Attack?

EU to Take Aim at Healthcare Cyber Threat

Mastering 2025: The Stakes Are High in Battling Cyber Threats

Phishing Attack Prevention: How to Identify and Avoid Phishing Scams

Report: 84% of Healthcare Organizations Identified a Data Breach Last Year

Healthcare Cyberattacks at Two Hospitals Prompt Tough Decisions as Their Clinical Laboratories Are Forced to Switch to Paper Documentation

Cyberattack Renders Healthcare Providers across Ascension’s Hospital Network Unable to Access Medical Records Endangering Patients

Change Healthcare Cyberattack Disrupts Pharmacy Order Processing for Healthcare Providers Nationwide

Lawsuits Fly as Employers, Providers Sue Health Insurance Companies Over Questionable Practices and Lack of Transparency

Legal actions highlight ongoing concerns about payer behavior and included a record-breaking settlement in antitrust case against Blue Cross and Blue Shield

Several high-profile federal lawsuits filed last year, along with settlements in older cases, demonstrate that providers, patients, and self-insured employers—including hospitals, clinical laboratories, and anatomic pathology groups—continue to have serious concerns about lack of transparency and certain business practices of health plans.

Self-Insured employers are suing because they cannot see their data and discovered their health plans overpaid providers from allowed charges (meaning a self-insured employer has greater health benefit costs).

Providers are suing because they are being paid less than agreed and have claims denied for spurious reasons.

These lawsuits show that there is increasing ill will and concerns by self-insured employers and providers as to how health insurers are properly conducting business.

Below is a rundown of the cases.

“Over the past 12 years we have dedicated an extraordinary amount of time, tireless effort, and resources to this historic outcome for providers,” said Co-Lead Counsel Edith Kallas, JD, of Whatley Kallas, a press release. The Blue Cross and Blue Shield Association settlement with healthcare providers is the largest healthcare-related antitrust settlement in US history, according to plaintiff’s attorney Whatley Kallas, LLP. Clinical laboratories and pathology groups can learn from these lawsuits. (Photo copyright: Whatley Kallas.)

BCBSA Settles Long-Running Antitrust Case

In October, the Blue Cross and Blue Shield Association (BCBSA) and the 33 independent Blue Cross and Blue Shield (BCBS) plans agreed to a $2.8 billion settlement in a 12-year-old federal antitrust lawsuit. Co-counsel for the plaintiffs Whatley Kallas, LLP, described the agreement as the “largest antitrust settlement in the history of the United States healthcare industry.”

Healthcare providers alleged that the BCBS plans had agreed “to allocate markets through the use of exclusive service areas and to fix the prices paid to providers through the BlueCard Program,” according to a news release.

In addition to the cash payment, the health plans also agreed to “invest hundreds of millions of dollars in system improvements for the benefit of providers,” the law firm noted, adding that the settlement would compel changes in how the plans “process claims, communicate with, and make payments to healthcare providers,” helping to “address resource-draining administrative burdens and inefficiencies currently experienced by providers.”

Whatley Kallas said the settlement would ultimately result in injunctive relief amounting to $17.3 billion during its first 10 years.

“Many important issues for providers are finally being addressed,” said Edith Kallas, JD, of Whatley Kallas in the news release. “We’re pleased that we have been able to achieve relief that will create a better system for healthcare providers and that will support the organizations and people we rely on to take care of us and our families every day.”

BCBSA also issued a statement: “This settlement ends a long-running legal challenge to the Blue Cross Blue Shield Association license agreements and related rules. We deny the allegations made in the lawsuit. However, to reach a settlement and put years of litigation behind us, we have agreed to make some operational changes and a monetary payment to the provider class involved in the case.”

Settlement in Billing Lawsuit

In North Carolina, Aetna and Optum agreed to a settlement in a long-running class action lawsuit alleging their billing practices violated the Employee Retirement Income Security Act of 1974 (ERISA).

As explained in court documents, plaintiff Sandra M. Peters was covered by an ERISA plan self-funded by Mars Inc. and administered by Aetna. The latter contracted with Optum to provide access to physical therapy, occupational therapy, and chiropractic services.

Peters alleged that Aetna, in collusion with Optum, fraudulently disguised the latter’s administrative fees as medical costs.

“These misrepresentations serve as the cover that allows Aetna to illegally (i) obtain payment of the Subcontractors’ administrative fees directly from insureds when the insureds’ deductibles have not been reached; (ii) use insureds’ health spending accounts to pay for these fees; (iii) inflate insureds’ co-insurance obligations using administrative fees; (iv) artificially reduce the amount of available coverage for medical services when such coverage is subject to an annual cap; and (v) obtain payment of the administrative fees directly from employers when an insured’s deductible has been exhausted or is inapplicable,” stated her original complaint, filed in 2015 in the US District Court for the Western District of North Carolina.

On Nov. 6, attorneys for Peters notified the court that they had settled the case. A month later, Optum said it had withdrawn from the settlement and was prepared to go to trial. Then, the parties appeared to resolve their remaining differences, and Peters’ attorneys filed notice on Dec. 17 that they had once again settled, Mealey’s reported. Terms of the settlement were not disclosed.

Owens and Minor Alleges Mismanagement of Self-Funded Plan

As reported by The Dark Report and various news outlets, Owens and Minor, a healthcare logistics company, filed a lawsuit in November against Anthem BCBS of Virginia, which had been administering Owens’ self-funded employee health plan since 2017.

The lawsuit, filed in the US District Court for the Eastern District of Virginia, alleged that Anthem “used Plan funds to enrich itself and its affiliated companies and medical providers to the Plan’s detriment,” according to court documents.

The complaint further stated that “Defendant acted contrary to the fiduciary standards imposed by ERISA by, among other things, (i) paying more for healthcare claims than was even billed, (ii) securing kickbacks from providers, (iii) double-paying claims, and (iv) pocketing rebates belonging to Plaintiff.”

Owens initially requested plan data from Anthem in September 2021, but Anthem refused to do so, the complaint stated. “Eventually, Plaintiff had to sue Defendant to obtain its own data. Now that Plaintiff has a portion of that Plan data and has had the opportunity to analyze it, it is clear why Defendant fought so hard to prevent Plaintiff from accessing it.”

Becker’s Payer Issues noted that the lawsuit “reflects a wider legal trend for employers and health plan administrators navigating ERISA requirements. Under the law, plan fiduciaries must act in the best interests of beneficiaries by seeking the lowest reasonable costs for services. Recent amendments, such as the Consolidated Appropriations Act of 2021, have heightened transparency requirements, leaving employers with new tools—and new pressures—to ensure compliance.”

DOJ Alleges Overcharges Related to Military Managed Care

On March 13, the US Department of Justice (DOJ) announced that it had sued six health plans that participate in the Uniformed Services Family Health Plan (USFHP) program, which provides health benefits to military retirees and their families. The government alleged that the plans were aware of calculation errors that had inflated payment rates by more than $300 million between 2008 and 2012.

“The Plans failed to report or return any of those overpayments and, in fact, continued submitting claims to the government at the improperly inflated rates for several more months,” the complaint states.

Named as defendants were:

Shortly after filing the lawsuit, US Family Health Plan Alliance issued a statement describing the allegations as “meritless,” Becker’s Payer Issues reported. The group said that the plans and the government had “expressly negotiated [payment rates] in a fixed-rate contract more than 10 years ago.”

These developments are clear signals in the market that self-insured employers, along with providers—including physicians, hospitals, and medical laboratories—have growing evidence that certain health insurance companies are gaming the system and not paying claims according to contractual arrangements. Expect to see more lawsuits against health plans, particularly by self-insured employers because, for them, the sums involved can be in the tens of millions of dollars.

—Stephen Beale

Related Information:

Blue Cross Blue Shield Settles US Health Provider Class Action for $2.8 Billion

Blue Cross Blue Shield to Pay $2.8B to Settle Class Action Provider Antitrust Case

Blue Cross Blue Shield Settles for $2.8 Billion to Providers in Antitrust Class Action

BCBS Reaches Record Antitrust Settlement for $2.8B

Optum, Aetna Agree to Settle ‘Dummy Code’ Lawsuit

North Carolina Court Certifies Nationwide Class in Healthcare Fee Challenge

The ERISA Edit: Health Plan Excessive Fee Litigation Against TPAs Continues

‘A Fox in the Henhouse’: Owens and Minor Sues Anthem in Latest Data Transparency Lawsuit  

Owens and Minor Sues Anthem, Accusing Insurer of Mishandling Claims

Owens and Minor Sues Anthem over Mismanaging Health Plan, Lack of Transparency

Feds Sue Six Health Plans for Allegedly Hiding Overpayments

After Decade-Long Global Competition, Sysmex’s Subsidiary, Astrego, Wins €8M Prize for a Rapid Test to Identify and Treat Urinary Tract Infections

Innovative in-office test, when integrated with UTI microbiology testing performed by clinical laboratories, could contribute to better patient outcomes

Treatments for certain bacterial infections are becoming less effective due to antimicrobial resistance (AMR). Now, after a 10-year-long worldwide competition, the first multi-million euro prize for an accurate, rapid, and cost effective clinical laboratory test for diagnosing and treating urinary tract infections (UTIs) went to Sysmex Corporation’s subsidiary Astrego. This milestone event could benefit tens of millions of people who suffer from UTIs annually.

Astrego, of Uppsala, Sweden, won the €8 million (US$8.19 million) Longitude Prize on AMR for its PA-100 AST System. The new diagnostic technology will “transform treatment of urinary tract infections and brings the power of clinical laboratory testing into a doctor’s office,” according to a news release from Challenges Works, the United Kingdom-based organization that organized and awarded the prize.

The Astrego system is, according to Challenge Works’ website, a “game-changing solution” in “a novel point-of-care diagnostic test that rapidly and accurately identifies the presence of a bacterial infection and the right antibiotic to prescribe.”

“We launched the Longitude Prize on AMR (in 2014) to create the urgent ‘pull’ needed to get innovators working on one of the biggest life-and-death challenges facing humanity. Hundreds of teams [that] competed with multiple solutions [are] now close to market thanks to the prize,” said Tris Dyson, Managing Director, Challenge Works, in a news release.

The new diagnostic technology “could herald a ‘sea change’ in antibiotic use” according to the judges of the competition, The Guardian reported.

“The PA-100 AST System (above) creates a future where patients can quickly and accurately get a diagnosis and the correct treatment when they visit the doctor,” said Sherry Taylor, MD, UK National Health Service, Temple Fortune Medical Group, London, in the Challenge Works news release. “Accurate, rapid diagnosis of bacterial infections that help doctors and health workers to manage and target antibiotics, will slow the development and spread of antibiotic resistant infections, improve healthcare and save potentially millions of lives,” she added. In-office point-of-care systems like the PA-100 may reduce the number of doctor orders for UTI tests to clinical laboratories while contributing to better patient outcomes. (Photo copyright: Sysmex.)

How the Test Works

In the UK, people are treated for UTIs more than any other infection. It takes about three days for doctors to receive the results from traditional microbiology testing. They then prescribe an antibiotic to treat the infection. But about half of “infection-causing bacteria are resistant to at least one antibiotic,” according to a news release from the Geneva, Switzerland-based NESTA Foundation which funded the Longitude Prize on AMR.

“It’s impossible to overstate how critical it is to address AMR [antimicrobial resistance]. By 2050, it is predicted to cause 10 million deaths a year—matching those caused by cancer—and cost $1 trillion in additional health costs,” the news release states.

UTI are more common in women and the reason for eight million healthcare appointments annually in the US, according to Medscape.

The PA-100 AST system makes it possible for patients to provide a small urine sample during their appointments with doctors, find out if they have a bacterial infection in 15 minutes, and receive the “right antibiotic to treat it within 45 minutes,” NESTA said. Sysmex describes the PA-100 AST as an “automated phenotypic analyzer, based on EUCAST standards,” that combines “phase-contrast microscopy and nanofluidics to make available antibiograms at point of care.” It enables healthcare providers to perform antimicrobial susceptibility testing (AST) in-office rather than sending out urine samples to microbiology laboratories.

The systems works as follows, according to the Sysmex website:

  • As a urine sample passes through the chip, “single bacterial cells are trapped in individual channels.”
  • Meanwhile, “larger cellular components” are filtered and kept out of the nanofluidic chip.
  • Contrast-phase microscopy enables real-time monitoring of cell growth. “Resistant bacteria keep a higher growth rate during incubation, while susceptible ones grow slowly or lyse.”

  • Expert computer software identifies that bacterial strain, delivers an “easy to interpret antibiogram after assay completion” and provides an “informed prescription decision” on which antibiotic is expected to fight the infection.

“The PA-100 AST System challenges bacteria present in a patient’s urine with microscopic quantities of antibiotics in tiny channels embedded in a cartridge the size of a smartphone,” said Mikael Olsson, CEO and co-founder of Sysmex Astrego, in The Microbiologist.

“We rapidly pinpoint whether a bacterial infection is present and identify which antibiotic will actually kill the bugs, guiding doctors only to prescribe antibiotics that will be effective,” he added.   

Sysmex is conducting more studies in the UK and working with regulators in Europe for clearances, according to Olsson.

Older Antibiotics May Make Comeback

It’s possible that use of the PA-100 system to identify the best antibiotic to treat infections could lead to a resurgence in the use of previously retired antibiotics.

“Roughly 25-30% of patients have infections resistant to older first-line antibiotics which have been retired as a result; this means the remaining 70-75% of patients could still benefit from those older drugs,” Pathology in Practice reported, adding, “Since the PA-100 AST System identifies which specific antibiotic can treat an infection, it will likely allow retired antibiotics to be brought back into service because the test is able to demonstrate when an infection is susceptible to their effects.”

Many people could benefit from the older antibiotics, Challenge Works noted.

Revolutionizing Healthcare

The Sysmex Astrego’s PA-100 AST System is a significant development.

“Currently, I send the urine sample off for analysis, and it usually takes around three days to come back with results,” said Sherry Taylor, MD, UK National Health Service, Temple Fortune Medical Group, London, in the Challenge Works news release. “Having a bedside test that would enable rapid diagnosis through antibiotic susceptibility testing would revolutionize general practice and patient care. It’s all about using antibiotics only when necessary and appropriate.”

Each individual test costs about €25 (US$25.72), The Guardian reported, adding that ramped up production may lower the price.

The PA-100 AST System is the latest example of a diagnostic/therapeutic solution developed in Europe rather than the US, which is often slower to award regulatory clearance.

It also is another test that will be performed outside of traditional clinical laboratory settings, demonstrating the trend to move medical laboratory tests closer to patients.

—Donna Marie Pocius

Related Information:

From Three Days to 45 Minutes: Rapid Test for UTI Wins €8M Longitude Prize on AMR to Transform Fight Against Superbugs

Winners of the €8M Longitude Prize on AMR Announced

Urinary Tract Infection (UTI) and Cystitis (Bladder Infection) in Females

Rapid UTI Test That Cuts Detection Time to 45 Minutes Awarded Longitude Prize

PA-100 AST System: Guiding the Future of Antibiotic Treatment

Rapid Test for UTI Wins €8M Longitude Prize on AMR to Transform Fight Against Superbugs

Sysmex’s Rapid UTI Test Wins €8M Longitude Prize on AMR

Unlocking Hope: The MV140 Vaccine for Recurrent Urinary Tract Infections

MV140 Sublingual Vaccine Reduces Recurrent Urinary Tract Infections in Women

UK Scientists Identify New Blood Type and Crack 50-Year-Old Mystery

Findings could lead to new clinical laboratory tests to screen for individuals with increased risk of blood transfusion complications

Pathologists and clinical laboratory scientists who understand the complexities of blood typing from one human to another will be interested to learn that a 50 year-old mystery has brought about an exciting new discovery—a new human blood group.

British and Israeli scientists led by the UK’s NHS Blood and Transplant (NHSBT) and the University of Bristol discovered the meaning behind a missing protein molecule found in a pregnant woman five decades ago. This anomaly has now been given its own blood group identification called MAL, according to a University of Bristol new release.

“Some people can lack this blood group due to the effect of illness, but the rare inherited form of the AnWj-negative phenotype has only been found in a handful of individuals—though due to this discovery it will now be easier to find others in the future,” the news release notes.

This is important because receiving mismatched blood can be fatal.

“AnWj is a high-prevalence red blood cell (RBC) antigen in the ISBT 901 series. Only nine reports of anti-AnWj have been published since it was first documented in 1972,” according to a 2012 article published by the American Association of Blood Banks, now known as the Association for the Advancement of Blood and Biotherapies (AABB).

For even the small proportion of the population with this new blood group, diagnosing its presence can have a major impact while preventing unwanted harm.

“The work was difficult because the genetic cases are very rare. We would not have achieved this without exome sequencing, as the gene we identified wasn’t an obvious candidate and little is known about Mal protein in red cells,” said Louise Tilley, PhD, Senior Research Scientist, IBGRL Red Cell Reference at NHS Blood and Transplant, in the news release.

The researchers published their findings in Blood, a journal of the American Society of Hematology, titled, “Deletions in the MAL Gene Result in Loss of Mal Protein, Defining the Rare Inherited AnWj-Negative Blood Group Phenotype.”

“The genetic background of AnWj has been a mystery for more than 50 years, and one which I personally have been trying to resolve for almost 20 years of my career,” said Louise Tilley, PhD (above), Senior Research Scientist, IBGRL Red Cell Reference at NHS Blood and Transplant, in the news release. “It represents a huge achievement, and the culmination of a long term effort, to finally establish this new blood group system and be able to offer the best care to rare, but important, patients,” she added. Clinical laboratory scientists involved in blood banking will want to keep updated as further research into this new blood group is published. (Photo copyright: NHS Blood and Transplant.)

Unraveling the Mystery

In 1972, scientists were stumped by a pregnant woman with a blood sample that was “mysteriously missing a surface molecule found on all other known red blood cells at the time,” Science Alert reported. The AnWj antigen that was missing in that patient’s blood is present in 99.9% of human blood samples.

“Researchers found that the AnWj antigen is carried on the Mal protein. While illness can cause some people to lose the AnWj antigen, inherited cases of the AnWj-negative phenotype are extremely rare. Using whole exome sequencing on five genetically AnWj-negative individuals, researchers confirmed that, in these cases, the participants lacked the antigen due to homozygous deletions in the MAL gene,” an AABB news release stated.

The researchers named the group with the missing antigen the MAL blood group (short for Myelin and Lymphocyte Protein) which is where the antigen resides.

Genetic sequencing enabled the scientists to locate the gene when they “inserted the normal MAL gene into blood cells that were AnWj-negative. This effectively delivered the AnWj antigen to those cells,” Science Alert noted.

Mutated MAL genes result in the AnWj-negative blood type. The team discovered three patients with the blood type and no mutation, “Suggesting that sometimes blood disorders can also cause the antigen to be suppressed,” Science Alert added. The researchers also discovered that AnWj isn’t present in newborns but arrives sometime after they are born.

“Interestingly, all the AnWj-negative patients included in the study shared the same mutation. However, no other cell abnormalities or diseases were found to be associated with this mutation,” Science Alert said.

The discovery that “the Mal protein is responsible for binding AnWj antibodies” could lead to new clinical laboratory tests to screen for patients at risk from blood transfusions, AABB noted in its news release.

Facing the Challenge

Scientists had to overcome many challenges to uncover the details of this blood type. The complexity of the protein further hindered their efforts.

“MAL is a very small protein with some interesting properties which made it difficult to identify, and this meant we needed to pursue multiple lines of investigation to accumulate the proof we needed to establish this blood group system,” said Tim Satchwell, PhD, senior lecturer and cell biologist at the University of the West of England, in the University of Bristol news release.

“Resolving the genetic basis for AnWj has been one of our most challenging projects,” Nicole Thornton, head of IBGRL Red Cell Reference at NHSBT told the AABB. “There is so much work that goes into proving that a gene does actually encode a blood group antigen, but it is what we are passionate about, making these discoveries for the benefit of rare patients around the world.”

It’s hard to pinpoint how many individuals will benefit by testing for the blood group, Tilley told the BBC. Nevertheless, “the NHSBT is the last resort for about 400 patients across the world each year,” the BBC reported. 

While more research needs to be done, the initial discovery is promising and may lead to new clinical laboratory tests to identify individuals who could be severely harmed should they receive the wrong blood type during a transfusion.                    

—Kristin Althea O’Connor

Related Information:

Deletions in the MAL Gene Result in Loss of Mal Protein, Defining the Rare Inherited AnWj-Negative Blood Group Phenotype

British Researchers Discover New Blood Group

NHS Blood and Transplant-Led Team Discovers New Blood Group System MAL

Researchers Discover New Blood Group System—MAL

New Blood Group Solves Half a Century of Mystery

Scientists Crack a 50-Year Mystery to Discover a New Set of Blood Groups

The Discovery of the MAL Blood Group: A Breakthrough in Understanding Rare Blood Types

Anti-AnWj Causing Acute Hemolytic Transfusion Reactions in a Patient with Aplastic Anemia

Scientists Identify New Blood Group after a 50 Year Mystery

Scientists Find New Blood Group after 50-Year Mystery

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