“CDC states the following about hemophilia:

• As many as 33,000 males are estimated to be living with hemophilia in the United States.
• Hemophilia is associated with spontaneous (unexplained) bleeding and excessive bleeding after injury. This can include repeated bleeding within joints that can lead to chronic joint disease.
• Bleeding symptoms in females with hemophilia are usually milder than symptoms in males with hemophilia. Nonetheless, females with hemophilia have been found to have reduced joint range of motion compared with females with no bleeding disorder.

Incidence and prevalence

• • The exact number of people living with hemophilia in the United States is not known. A CDC study that used data collected on patients receiving care in federally funded hemophilia treatment centers during the period 2012–2018 estimated that as many as 33,000 males in the United States are living with the disorder.
  • Hemophilia A (low levels of clotting factor VIII [8]) is three to four times as common as hemophilia B (low levels of clotting factor IX [9]).
  • Among all males with hemophilia, just over 4 in 10 have the severe form of the disorder.

Center for Disease Control and Prevention

(Data and Statistics on Hemophilia | Hemophilia | CDC)

What is this condition?

Hemophilia is a bleeding disorder characterized by low levels of clotting factor proteins. Correct diagnosis of Hemophilia is essential to providing effective treatment. Blood Center of Wisconsin offers one of the largest diagnostic menus to accurately and confidently diagnose Hemophilia.

The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner.  Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.

But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Hemophilia can occur in daughters but is rare.

For a female carrier, there are four possible outcomes for each pregnancy:

1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia

Hemophilia is an X-linked inherited bleeding disorder caused by mutation of the F8 gene that encodes for coagulation factor VIII or the F9 gene that encodes for coagulation factor IX. The degree of plasma factor deficiency correlates with both the clinical severity of disease and genetic findings. Severe hemophilia is characterized by plasma factor VIII or factor IX levels of under 1 IU/dl. Moderate and mild hemophilia are characterized by factor VIII or factor IX levels of 1-5 IU/dL or 6 – 40 IU/dL, respectively. Genetic analysis is useful for identification of the underlying genetic defect in males with severe, moderate or mild hemophilia and for determination of carrier status in the female individuals within their families. Additionally, data is emerging regarding the correlation between a patient’s mutation status and the risk of that patient developing an inhibitor.

People with hemophilia A often, bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma. How frequently a person bleeding and the severity of those bleeds depends on how much factor VIII is in the plasma, the straw-colored fluid portion of blood.

Normal plasma levels of factor VIII range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a person’s symptoms.

• Mild hemophilia A- 6% up to 49% of FVIII in the blood. People with mild hemophilia A generally experience bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction which results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.
• Moderate hemophilia A. 1% up to 5% of FVIII in the blood. People with moderate hemophilia A tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes.
• Severe hemophilia A.  <1% of FVIII in the blood. People with severe hemophilia A experience bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles.  Hemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity.  Genetic testing is usually used to identify women who are carriers of a FVIII or FIX gene mutation, and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B. There is currently no cure for hemophilia. Treatment depends on the severity of hemophilia. People who have moderate to severe hemophilia A or B may need to have an infusion of clotting factor taken from donated human blood or from genetically engineered products called recombinant clotting factors to stop the bleeding. If the potential for bleeding is serious, a doctor may give infusions of clotting factor to avoid bleeding (preventive infusions) before the bleeding begins. Repeated infusions may be necessary if the internal bleeding is serious. When a person who has hemophilia has a small cut or scrape, using pressure and a bandage will take care of the wound. An ice pack can be used when there are small areas of bleeding under the skin.
• When bleeding has damaged joints, physical therapy is used to help them function better. Physical therapy helps to keep the joints moving and prevents the joints from becoming frozen or badly deformed. Sometimes the bleeding into joints damages them or destroys them. In this situation, the individual may be given an artificial joint.
• Treatment may involve slow injection of a medicine called desmopressin (DDAVP) by the doctor into one of the veins. DDAVP helps to release more clotting factor to stop the bleeding. Sometimes, DDAVP is given as a medication that can be breathed in through the nose (nasal spray).

Diagnosing the condition:

• Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing.

What is ITP?

ITP means idiopathic thrombocytopenic purpura which is an autoimmune disease. The immune system is mistakenly attacking and destroying good platelets.  In autoimmune diseases, the body mounts an immune attack toward one or more seemingly normal organ systems. In ITP, platelets are the target. They are marked as foreign by the immune system and eliminated in the spleen, the liver, and by other means. In addition to increased platelet destruction, some people with ITP also have impaired platelet production.

A normal platelet count is between 150,000 and 400,000/microliter of blood. If someone has a platelet count lower than 100,000/microliter of blood with no other reason for low platelets, that person is considered to have ITP.1 There is no accurate, definitive test to diagnose ITP.

SYMPTOMS: 

Simple to understand. Platelets are for clotting our blood; if the platelet count is high we clot too much if low, in ITP, we bleed easy to hemorrage.

With few platelets, people with ITP often have bleeding symptoms such as spontaneous bruising, petechiae (pe-TEEK-ee-ay), tiny red dots on the skin, Bleeding from the gums or nose, and for women, possibly heavy menses. More severe bleeding symptoms include blood blisters on the inside of the mouth, blood in the urine or stool, or bleeding in the brain.

Idiopathic thrombocytopenic purpura or immune thrombocytopenia affects children and adults. Children often develop ITP after a viral infection and usually recover fully without treatment. In adults, the disorder is often long term.

Treatments for the disease vary depending on the platelet count, severity of symptoms, age, lifestyle, personal preferences, and any other associated diseases. Some people may choose to not treat their disease and live with low platelets.

While it may seem like ITP is a simple disease, there are nuances to the diagnosis, differences in the disease between children and adults, and variations in how the disease responds to treatments.

TYPES OF ITP:

Newly diagnosed ITP: within 3 months from diagnosis
Persistent ITP: 3 to 12 months from diagnosis. During this phase, patients have not reached spontaneous remission or maintained a complete response off therapy
Chronic ITP: lasting for more than 12 months
Severe ITP: presence of bleeding symptoms that need treatment or need an increase from prior treatment
Refractory ITP: does not respond or is resistant to attempted forms of treatment

RISK FACTORS:

-Your sex. Women are two to three times more likely to develop ITP than men are.

-Recent viral infection. Many children with ITP develop the disorder after a viral illness, such as mumps, measles or a respiratory infection.

COMPLICATIONS:

-A rare complication of ITP, bleeding into the brain, which can be fatal.

-Pregnancy

In pregnant women with ITP, the condition doesn’t usually affect the baby. But the baby’s platelet count should be tested soon after birth.

If you’re pregnant and your platelet count is very low or you have bleeding, you have a greater risk of heavy bleeding during delivery.

DIAGNOSIS:

1.  M.D. will exclude other possible causes of bleeding and a low platelet count, such as an underlying illness or medications being the cause of low platelet count, not ITP.

2. Take a history of the child or adult, including their family.

3. Complete blood count (CBC).  Looks at red blood, white blood and platelet cells counts.

4 Blood smear. This test is often used to confirm the number of platelets observed in a complete blood count.

5.Bone marrow exam. This test may be used to help identify the cause of a low platelet count, though the American Society of Hematology doesn’t recommend this test for children with ITP.  All cells (platelets) are produced in the bone marrow.  Bone marrow will be normal because a low platelet count is caused by the destruction of platelets in the bloodstream and spleen — not by a problem with the bone marrow.

TREATMENT:

People with mild idiopathic thrombocytopenic purpura may need nothing more than regular monitoring and platelet checks. Children usually improve without treatment. Most ITP adults will eventually need treatment as it gets worse or becomes chronic.

1-The M.D will stop any meds that inhibit platelet production=Anti-platelet Meds (Ex. aspirin, ibuprofen (Advil, Motrin IB, others), ginkgo biloba and warfarin, also known as Coumadin)

2-Drugs that suppress your immune system.  M.D. might start you on oral corticosteroid, such as prednisone and when platelet count is normal gradually decrease the dosing till no longer on it.  The problem is that many adults experience a relapse after stopping corticosteroids. A new course of corticosteroids may be pursued, but long-term use of these medications is unusual, due to its long term side effects. These include cataracts, high blood sugar, increased risk of infections and thinning of bones (osteoporosis).

3-Injections to increase your blood count (Ex. immune globulin (IVIG). This drug may also be used if you have critical bleeding or need to quickly increase your blood count before surgery. The effect usually wears off in a couple of weeks.

4-Drugs that boost platelet production.  Examples romiplostim (Nplate) and eltrombopag (Promacta) — help your bone marrow produce more platelets.

5-Other immune-suppressing drugs. Rituximab (Rituxan) helps reduce the immune system response that’s damaging platelets, thus raising the platelet count.

6-Removal of your spleen.

7-Other drugs. Azathioprine (Imuran, Azasan) has been used to treat ITP. But it can cause significant side effects.

Review all treatments with your personal doctor.

“Did you know that our special month for raising awareness about bleeding disorders has been around for almost 40 years? It all started back in 1986 when President Reagan set aside March as National Hemophilia Awareness Month. This happened during a really tough time when many in our hemophilia family were affected by contaminated blood products.

For about 30 years, the focus was mainly on hemophilia. But in 2016, something important changed – the month was officially renamed to “Bleeding Disorders Awareness Month.” This new name recognized that our community includes people with many different conditions – not just hemophilia, but also von Willebrand disease and other bleeding disorders.

According to the U.S. Centers for Disease Control, there are about 3 million people nationwide who are affected by bleeding disorders.

Between 30,000 and 33,000 people in the U.S. are thought to live with hemophilia. The most common bleeding disorder is von Willebrand disease (VWD), which affects about 1 in every 100 people.”

National Bleeding Disorders Foundation, formerly NHF

(Bleeding Disorders Awareness Month | National Bleeding Disorders Foundation)

It arises from a deficiency in the quality or quantity of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.

“Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music. WS occurs equally in males and females and in all cultures worldwide.”

Williams Syndrome Association (What is Williams syndrome? | Williams Syndrome Association)

Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  The most significant medical problem associated with WS is the cardiovascular disease caused by the narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.

Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.

However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 7,500 – 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.

However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.

Unfortunately there is no cure for Williams syndrome, nor is there a standard course of treatment.

The prognosis for individuals with WS varies. Some degree of impaired intellect is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver.

Where you can find additional information about Williams syndrome:

You may find the following resources about Williams syndrome helpful. These materials are written for the general public.

• MedlinePlus – Health information (4 links)

• Genetic and Rare Diseases Information Center – Information about genetic conditions and rare diseases (2 links)

• Additional NIH Resources – National Institutes of Health (2 links)

• Educational resources – Information pages (7 links)

“”Chronic kidney disease (CKD) affects more than 1 in 7 U.S. adults—an estimated 35.5 million Americans.1 For Americans with diabetes or high blood pressure—the two most common causes of kidney disease—the risk for CKD is even greater. About 1 in 3 people with diabetes and 1 in 5 people with high blood pressure have kidney disease.1 Other risk factors for developing kidney disease include heart disease and a family history of kidney failure.

Despite the prevalence of kidney disease in the United States, as many as 9 in 10 adults who have CKD are not aware they have the disease.1 Early-stage kidney disease usually has no symptoms, and many people don’t know they have CKD until it is very advanced. Kidney disease often gets worse over time and may lead to kidney failure and other health problems, such as stroke or heart attack. Approximately 2 in 1,000 Americans are living with end-stage kidney disease (ESKD)—kidney failure that is treated with a kidney transplant or dialysis.”

National Institute of Diabetes and Digestive and Kidney Disease NIH-NIDDK (https://www.niddk.nih.gov/health-information/health-statistics/kidney-disease)”

Chronic kidney disease occurs when a disease or condition impairs kidney function, causing kidney damage to worsen over several months or years.

Diseases and conditions that cause chronic kidney disease include:

• Type 1 or type 2 diabetes
• High blood pressure
• Glomerulonephritis (gloe-mer-u-low-nuh-FRY-tis), an inflammation of the kidney’s filtering units (glomeruli)
• Interstitial nephritis (in-tur-STISH-ul nuh-FRY-tis), an inflammation of the kidney’s tubules and surrounding structures
• Polycystic kidney disease
• Prolonged obstruction of the urinary tract, from conditions such as enlarged prostate, kidney stones and some cancers
• Vesicoureteral (ves-ih-koe-yoo-REE-tur-ul) reflux, a condition that causes urine to back up into your kidneys
• Recurrent kidney infection, also called pyelonephritis (pie-uh-low-nuh-FRY-tis)