Genetic predisposition to MDS: clinical features and clonal evolution
7 Lesser-Known Symptoms Of Hemophilia: Blood In Stool And Other Warning Signs To Look Out For
7 Lesser-Known Symptoms of Hemophilia: Blood In Stool And Other Warning Signs To Look Out For Uncover some of the hidden signs of Hemophilia, including blood in the stool among several other red flags to keep an eye out for.Haemophilia, a genetic ailment causing trouble for the blood in clotting correctly, is relatively rare. Despite its low occurrence, there are multiple facets about this disorder that are often overlooked and deserve our attention.
Predominantly a hereditary disease, haemophilia primarily strikes males. It is the outcome of clotting factor deficiency, particularly Factor VIII (Haemophilia A) or Factor IX (Haemophilia B). The short supply of these factors causes bleeding for an extended period and hurdles in forming clots, leading to severe consequences if left untreated. In an exclusive interaction with TheHealthSite.Com, Dr. Rajesh Jaria, Consultant Internal Medicine, P.D. Hinduja Hospital & MRC, Khar, shared the various unknown facts about this condition and its management strategies.
Different Types of HaemophiliaHaemophilia is a genetic disorder, passed via an X-linked recessive pattern, resulting in the disorder primarily affecting males and making females carriers. Two main types of haemophilia:
The root cause is identified as a mutation in one of the genes providing instructions for making clotting factors. The disorder results in a deranged ability of blood to clot, causing an easy bruising and excessive bleeding. The latter can either occur spontaneously or after an injury. Additionally when it occurs it will be a prolonged bleeding from cuts or injuries, nosebleeds, blood in the urine or stool, and joint pain or swelling from bleeding into a joint.
7 Lesser-Known Symptoms of HemophiliaHere are some of the most uncommon signs and symptoms of haemophilia:
Blood in StoolSpotting blood in one's stool doesn't commonly come to mind when thinking about hemophilia.
Swelling and Pain in JointsHemophiliacs might incessantly endure pain and swelling in joints, typically noticeable in load-bearing joints, like knees, elbows, and ankles.
Extended NosebleedsOccasional nosebleeds are ordinary and inconsequential. But, hemophiliacs often undergo extended and repetitive nosebleeds due to defective blood clotting.
Blood in UrineHematuria, i.E., blood-tinged urine, is another hemophilia symptom that should be taken seriously.
Severe ExhaustionHemophiliacs often experience persistent sluggishness, a shared yet neglected symptom. Fatigue can potentially result from anemia due to chronic blood loss or other interconnected ailments.
Idiosyncratic BruisingWhile easy bruising is common with hemophilia, don't dismiss bruises that pop up on unusual or non-traumatic body parts. Unexplained bruises on the tummy, back, or thighs might be noting hidden internal bleeding and require immediate medical intervention.
HeadachesFrequent headaches and alteration in vision due to bleeding within the brain or eyes can be a part of the hemophiliacs' life.
7 Ways To Treat HaemophiliaTreatment for haemophilia typically involves replacement of missing clotting factor through injections on a need basis for bleeding episodes or as a preventative measure (eg: pre-surgery). In severe cases, patients require regular infusions of clotting factor to prevent bleeding episodes. Newer therapies now available are
Desmopressin in some forms of mild haemophilia, can stimulate the body to release more clotting factor.
Haemophiliacs need to take care of a few things such as
There is no specific diet regimen for haemophilia, but it is important to maintain a balanced and healthy diet to support overall health and well-being. This includes eating a variety of fruits, vegetables, whole grains, lean proteins, and healthy fats. It may also be beneficial to incorporate foods rich in vitamin K, such as leafy green vegetables, which can help promote blood clotting.
Genetic counselling is recommended in individuals with a family history of haemophilia - to determine the risk of passing the disorder on to future generations. Support groups and resources are available, for education, advocacy, and emotional support.
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Treating Iron Deficiency In Women With Hemophilia
Iron deficiency has been a hot topic at the online hemophilia summits I've attended recently, and it's encouraging to see this important issue being addressed.
Hemophilia doesn't directly cause iron deficiency, but heavy menstrual bleeding can lead to iron loss. Women with hemophilia who experience heavy menstrual bleeding are at an increased risk of developing iron deficiency and anemia compared with men who have hemophilia.
In my younger menstruating years, I was consistently iron deficient and often anemic. At the time, I accepted it as something I just had to live with. My anemia was brushed off as inconsequential and expected.
The iron pills prescribed by my hematologist back then did little to help. I often felt terrible, but didn't realize that my sluggishness was because of a low iron level. I was tested for autoimmune disorders and other problems, but none of them explained my symptoms. It wasn't until I finally had a series of iron infusions at the age of 54 that my iron level improved.
Knowing what I know now, I should have pushed for better treatment of my bleeding disorders.
In a presentation titled "Iron Deficiency: A Metric for Therapy Success," delivered during Hope for Hemophilia's Prophy Conference last week, hematologist Claudio Sandoval described iron deficiency as a "terrible disease" because iron is critical for the body.
He emphasized that if a woman with a bleeding disorder remains iron deficient despite treatment, she's not getting the most from her therapy. This situation certainly applied to me in the past. I used Stimate (desmopressin acetate) and hormonal therapy for my von Willebrand disease during my periods, but they didn't help my heavy bleeding or iron deficiency. I now realize that I also probably needed treatment for my low factor IX (hemophilia B), which wasn't an option for women at the time.
Why are ferritin levels important?Sandoval explained that chronic blood loss from heavy menstrual periods and gastrointestinal bleeding are well-known causes of iron deficiency. This condition occurs when the body lacks sufficient iron to produce hemoglobin, the substance in red blood cells that enables them to carry oxygen. This deficiency can lead to various health issues, ranging from fatigue to more severe conditions like iron deficiency anemia.
Ferritin, a blood protein that stores iron in the body, is a key indicator of iron levels. The reference value in a lab for women with low ferritin is usually around 16 ng/mL, but Sandoval noted that a level below 50 ng/mL is definitive for iron deficiency.
Sandoval recommended that women with bleeding disorders have their ferritin level checked at least once a year. Fortunately, my hematologist has implemented a standing lab order for my ferritin to be checked every three months. I usually don't check it that often, but after listening to Sandoval, I went to the lab the next day. My ferritin level is 60 ng/mL, which is above the reference point of 50 ng/mL.
However, my ferritin level has slowly decreased over the years, following my iron infusions. I plan to have it checked again in six months.
Iron deficiency is not just a minor inconvenience; it's a significant health issue that deserves attention and proper management. Reflecting on my experiences, it becomes clear that advocating for comprehensive care and treatment for women with bleeding disorders is crucial. Regular monitoring and proactive management of iron levels are key to preventing the debilitating effects of iron deficiency. I hope that sharing my story and insights from experts like Sandoval will encourage others to seek appropriate treatment.
Have you experienced iron deficiency? What stands out about your experiences? Please share in the comments below.
Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to hemophilia.
Hemophilia Not Linked With Cognitive And Behavioral Outcomes In Children
However, investigators said there is some evidence suggesting attention-deficit/hyperactivity disorder may be more common in certain age groups of children with hemophilia.
Children with hemophilia have similar intellectual and behavioral development to their peers in the general population, but a new report finds certain age groups of children also exhibited higher rates of attention-related deficits.1
Study authors Mrakotsky, et al noted that previous research has suggested that hemophilia had negative effects on patients' cognition independent of other medical conditions.
Red blood drop with double helixImage credit: Елена Бутусова - stock.Adobe.Com
For instance, a 1998 study suggested that children with more severe hemophilia had lower levels of academic achievement.2A 2003 study also found that boys with hemophilia may be more likely than the general population to have attention-deficit/hyperactivity disorder (ADHD).3
However, Mrakotsky and colleagues noted that the standard of care for patients with hemophilia has changed significantly in recent decades.1
"Historically, patients with hemophilia were treated with human plasma-derived clotting factor concentrates, leaving them susceptible to HIV infection due to contaminated factor products," they wrote. But the use of viral inactivated factor concentrates has significantly reduced the risk of HIV infection in patients with hemophilia. The resulting reduction in viral burden—along with other improvements in hemophilia patient care—may have had an effect on the cognitive consequences of hemophilia.
The new study, which was published in The Journal of Pediatrics, aimed to see whether contemporary standards of care affected the risk of cognitive, behavioral, and adaptive deficits in children and young adults with hemophilia.
The investigators enrolled 551 males between the ages of 1 and 21 who had either hemophilia A or B. Patients were allowed to enroll regardless of the severity of their hemophilia, and regardless of whether they were taking inhibitors. The participants underwent neurological and neuropsychiatric assessments, and their scores on those tests were compared with age-matched population norms from the United States.
Most of the patients in the study had hemophilia A (81.1%), and most had what was considered to be severe hemophilia (62.4%).
The investigators found that, in general, males with hemophilia had age-appropriate levels of intellectual, behavioral, and adaptive development. They also found no association between the type or severity of hemophilia and early development or cognitive function. One reason for the latter finding, they said, might be that people with moderate or severe hemophilia are more likely to closely monitor activities that increase their risk of injury, which in turn may decrease the association between disease severity and cognitive morbidity.
"It is also possible that increased treatment efficacy has effectively neutralized the developmental risks associated with more severe disease, presumably related to a historically higher burden of bleeds (including brain bleeds)," the authors wrote.
Still, Mrakotsky and colleagues did find that certain age cohorts of children with hemophilia had lower scores on measures of attention and processing speed than their peers without hemophilia. Specifically, they said, children ages 4 to 5 and adolescents ages 10 to 21 performed worse on those measures.
"Furthermore, adolescents and young adults and those with comorbid [ADHD] reported more adaptive and executive function problems in daily life," they wrote. "Incidence of ADHD in adolescents (21%) was higher than expected in the general population."
The investigators noted that finding underscores the importance of screening for ADHD and similar disorders in patients with hemophilia, in order to more quickly initiate any needed interventions.
"This study established a normative data set for monitoring neurodevelopment in individuals with hemophilia and highlights the importance of screening and intervention for challenges with cognitive and adaptive skills in this population," they concluded.
References
1. Mrakotsky C, Walsh KS, Buranahirun Burns C, et al. The eTHINK study: cognitive and behavioral outcomes in children with hemophilia. J Pediatr. Published online May 9, 2024. Doi:10.1016/j.Jpeds.2024.114089
2. Usner DW, Donfield SM, Sirois PA, Gomperts ED, Bale JF Jr, Mitchell WG. Hemophilia morbidity, cognitive functioning, and academic achievement. J Pediatr. 1998;133(6):782-787. Doi:10.1016/s0022-3476(98)70151-9
3. Wodrich DL, Recht M, Gradowski M, Wagner L. Is attention deficit hyperactivity disorder over-represented among HIV-seronegative boys with haemophilia? Preliminary results from our centre. Haemophilia. 2003;9(5):593-597. Doi:10.1046/j.1365-2516.2003.00790.X
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