Current developments of gene therapy in human diseases - Liu - 2024 - MedComm
Hemophilia Carriers' Reproductive Decisions Linked To Childhood ... - AJMC
A study found that negative experiences and concern for future children's health drive hemophilia carriers to choose prenatal tests, with cognitive factors playing a role.
A new study demonstrated the impact negative experiences can have on individuals with mild hemophilia or those who carry the gene. The investigators, led by Ilaria Cutica, PhD, at the University of Milan's Department of Oncology and Hematoncology, assessed how the cognitive factors of these individuals related to their reproductive decisions.1
While it might not be widely acknowledged, this population often experiences hemophilia symptoms and bleeds, though many don't realize the abnormality or risks of mild hemophilia.2
Woman holding pregnancy testImage credit: JustLife – stock.Adobe.Com
More research is necessary to fully understand the disease mechanisms in women, but because they are affected in addition to their carrier status, the condition is known as mild hemophilia, Margaret Ragni, MD, MPH, who was not involved in the study, explained in a previous interview with The American Journal of Managed Care®.
"By giving them that name, they're taken more seriously, because physicians believe that bleeding disorders only occur in men [and] cannot occur in women who have to bleed at delivery—and that's part of being a normal woman," she said. "But the truth is, they have much more severe bleeding than the normal average woman who has menstrual bleeding, who has bleeding at delivery."
Even without symptoms, this population often has early experiences with family members who have hemophilia, which can be significant. The study found high distress toward hemophilia as a result of negative childhood experiences in this population that led to high concern for their children's health.1
A Chi-square test revealed a significant relationship between the study population's (N = 54) concern about their own child's health and the type of prenatal test performed (P = .004). Those who were deeply concerned about the potential impact of their carrier status on their children's health were more likely to opt for a prenatal diagnostic test (PND or PGT) instead of a routine pregnancy analysis (RPA).
Additionally, the ANOVA analysis indicated significant differences in prenatal test preferences when assessing the individuals' rational decision-making style, problem-focused coping strategy, and need for cognitive closure.
The post-hoc analysis revealed those who chose PND had a significantly higher mean value for rational decision-making style compared with those who chose RPA (P = .003). Individuals who opted for PND exhibited a significantly higher mean value for the problem-focused coping strategy compared with those who chose RPA (P = .010).
Furthermore, data showed those who selected RPA had lower scores on the need for cognitive closure compared with those who chose PND (P = .02).
Previous studies examining the experiences of hemophilia carriers in the context of reproductive decision-making and prenatal diagnosis have identified various predictive clinical and situational factors. However, this current study delves deeper into the role played by cognitive and emotional characteristics in this complex decision-making process.
In recent years, there has been a growing interest in understanding the multifaceted decision-making challenges faced by this population when they encounter pregnancy. This is a topic of relevance because the associated emotional burden can impact pregnancy outcomes.
The study results indicated 57% of the individuals chose PND as their preferred option. Investigators observed that those who opted for PND appeared to view their carrier status with a greater concern for their children's health rather than primarily focusing on their own health or having no concern at all, which aligns with previous literature.
This study underscores the emotional burden this process can take and emphasizes the role of cognitive and emotional factors in shaping these decisions. Additionally, the study's findings provide valuable insights into the preferences of this population regarding prenatal diagnostic testing, shedding light on the importance of their past experiences and concerns for their children's well-being in influencing their choices.
References
1. Cutica, I, Mortarino, M, Garagiola, I, Pravettoni, G, Peyvandi, F. Psychological and cognitive factors involved in decision-making process of haemophilia carriers in reproductive choices. Haemophilia. 2023; 1-7. Https://doi.Org/10.1111/hae.14836
2. Grossi G. Dr Margaret Ragni sheds light on the necessity of testing hemophilia carriers. AJMC. September 6, 2023. Https://www.Ajmc.Com/view/dr-margaret-ragni-necessity-testing-hemophilia-carriers
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Hemophilia A Vs. B: What To Know - Medical News Today
Hemophilia A and B are similar conditions that affect the blood's ability to clot. They typically occur due to gene variations that affect different blood clotting factors.
Hemophilia is a group of conditions that impact the blood's ability to coagulate, or clot. When the blood does not clot properly, a person is at a higher risk for spontaneous bleeding or severe bleeding following an injury.
Hemophilia occurs when an individual has low levels of certain proteins in the blood, known as clotting factors. There are many different clotting factors, and they play an important role in the formation of blood clots.
Hemophilia A and B are two of the most common types of hemophilia. Different types of hemophilia correspond to various clotting factors. Hemophilia A and B occur due to factor VIII and IX deficiencies, respectively.
Hemophilia A and hemophilia B are the two main types of hemophilia. Both conditions have similarities but are distinguishable by the genetic variation that causes the blood clotting problem.
Both hemophilia A and B are typically X-linked conditions. This is because the X chromosomes contain the genetic alterations that can lead to both types of hemophilia. Hemophilia is more common in males. However, while it is much rarer, hemophilia can also affect females.
People living with hemophilia A have a genetic variation in the F8 gene, which is responsible for producing blood clotting factor VIII. Meanwhile, those with hemophilia B have a genetic alteration in the F9 gene, which results in the underproduction of blood clotting factor IX.
Hemophilia A and B tend to occur due to a person inheriting a genetic variation that leads to an underproduction of certain blood clotting factors.
For hemophilia A, a genetic alteration in the F8 gene causes an underproduction of clotting factor VIII. However, for hemophilia B, a genetic variation in the F9 gene results in low levels of clotting factor IX. These gene alterations result in a deficiency, or impaired function, in the corresponding clotting factor.
However, in rare cases, a person may develop acquired hemophilia. This is when hemophilia develops in individuals without a personal or family history of blood clotting problems. It can occur if the body produces antibodies that mistakenly attack blood clotting factors.
As hemophilia is a genetic condition, it typically runs in families. Additionally, as it is an X-linked condition, it presents more commonly in males but can also affect females.
The symptoms of hemophilia A and B are similar. Common symptoms may include:
Is hemophilia A or B more severe?
There is little research comparing the severity of hemophilia A and B. A 2019 review notes that people with hemophilia B are less likely to experience severe symptoms. However, there is unlikely to be a significant difference between the two.
Instead, it is more important to consider the severity of the condition itself. For hemophilia, this refers to the amount of clotting factor a person has in their blood. People in the general population will have 50–150% clotting factors in their blood. This amount is lower in those with hemophilia and ranges from:
The treatment options for both conditions are similar and involve replacing the deficient blood clotting factor. As such, treatment for hemophilia A usually involves replacement therapy for factor VIII, and treatment for hemophilia B involves replacing factor IX.
A doctor may also prescribe non-factor replacement therapies to help prevent bleeding or assist in better clotting. These medications may include desmopressin and aminocaproic acid.
There are also gene therapy options available for both hemophilia A and B. These are Roctavian and Hemgenix. Both treatments use a modified virus containing the gene for the deficient blood clotting factor. After a single dose, the virus carries the gene for the missing blood clotting factor into liver cells, which allows the liver to produce either factor VIII or IX.
The outlook for both hemophilia A and B varies and depends on the severity of the condition. As treatment options and accessibility to treatment continue to improve, the life expectancy for someone with hemophilia increases.
A 2021 study in the Netherlands suggests that the average life expectancy of males in the Netherlands with either hemophilia A or B is roughly 6 years less than the general Dutch male population.
Hemophilia is a group of conditions that interfere with the blood's ability to clot properly. Hemophilia A and B are two of the most common types of hemophilia.
The symptoms of both conditions are similar, but they occur due to deficiencies in different blood clotting factors. Both occur most often due to genetic reasons.
Hemophilia A usually occurs due to an alteration in the F8 gene, causing an underproduction of factor VIII. Hemophilia B typically develops due to a variation in the F9 gene, causing low levels of factor IX.
Treatment for both conditions often involves replacing the deficient blood clotting factor. The outlook for both conditions varies depending on the severity. However, with proper treatment, many people with hemophilia live full lives.
Advocating For Shared Decision-Making In Hemophilia B Care
Kim Phelan is a passionate advocate for people living with hemophilia B. As chief operating officer of the nonprofit, Coalition for Hemophilia B, she has spent decades not only advocating for better treatment, but for an approach to treatment that is more patient-centered and more in touch with the day-to-day realities and dreams of people living with hemophilia B.
While she is a proponent of shared decision-making as a way to improve patients' lives–as well as improve the ability of health care practitioners to care for their patients in relevant and meaningful ways–she believes that shared decision-making won't just happen, both patients and doctors need to take strides to make it happen. Key to this, she says, is education, awareness and empowerment.
We sat down with Kim for a Q&A session regarding shared decision-making, and this is what she had to say:
Q: How do people living with hemophilia B experience life in different ways and prioritize what is important for them?A: People living with hemophilia B are unique, no two are the same. The overall goal of shared decision-making is quality of life and to remove the obstacles for people with hemophilia B to live a life well lived. There is no one size fits all. People with hemophilia B come from all walks of life and have different priorities on how they want to live their lives.
Some people with hemophilia B have a great passion for sports and activity. It is in the core of their very being to be active, and they long for a lifestyle that is going to give them that freedom.
There are also people with hemophilia B who want to be of service (i.E., policeman, fireman, or EMT). They want to help people, but this requires optimal physical shape.
Some people with hemophilia B love music and the arts. They love to create and live their passion.
Other people with hemophilia B love to travel the world and experience new cultures.
Their soul calls to them to explore.
Q: How do you define shared decision-making?A: Shared decision-making is easy to define. At its core, it is agreed-upon goals and collaboration between the patient and physician to achieve them. I would add, however, that while it may be relatively easy to define, shared decision-making is not always easy to practice. Not for patients, many of whom are used to following physician directions, and not for physicians, many whom have not historically had multiple options for consideration alongside the patient.
Q: What do patients and their physicians need to know before they start going down this path?A: It's a relatively new approach, especially in the hemophilia B community. So, to start, both patients and physicians need to reconsider their roles in order to reposition their relationship. Patients have to understand they deserve to collaborate with their physicians, to be a part of the decision-making process that can impact their lives. It's their lives, after all.
Likewise, physicians should engage people living with hemophilia B as equal partners in their treatment. Unless both patients and physicians feel this way, shared decision-making either won't work at all or won't work as well as it should.
Ultimately, the hope of shared decision-making in hemophilia–or any condition–is an informed, well-thought-out and mutually agreed-upon treatment plan that both can feel really good about.
Q: What do patients and their physicians need to do to prepare for a positive shared decision-making experience?A: For patients specifically, to ensure they get the most from shared decision-making, they have to become empowered to be a partner in this experience. And that happens by educating themselves about their disease and the treatment options for it, including new alternatives like gene therapy, which, for example, includes a new terminology and level of understanding. They can't speak intelligently with their doctors if they do not know the right words to use. Ultimately, you have to advocate for yourself, which means knowing the language and what you're talking about so that you can work together with your doctor to find the right solution that works for you.
Q: How can doctors encourage patients during visits to feel empowered to bring up challenges they may be having with their current treatment option?A: The doctor can ask, how's it going? Do you feel this is working for you? If so, why, and if not, how can we rethink your treatment to better support your goals? I think providing patients with educational materials, like pamphlets, are important, too, so patients can read up and then discuss further. The doctor can say, why don't you look this over and send any questions you have to a nurse, and we will set up a time to talk to you more about it. That's the ideal.
Q: What is the ultimate goal of shared decision-making?A: The goal is quality of life. Thirty years ago that wasn't really a consideration. Everybody was on crutches, in wheelchairs. We've come a long way and now we're in this amazing place where we can actually see a really good quality of life for patients. This is what I've been waiting for because I've had my heart broken so many times seeing people suffering.
Now I can confidently tell patients to dream big, to really think about what they'd like to see for themselves, and then work with your doctor to make those dreams come true.
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