“Hemophilia is a rare disorder in which the blood doesn’t clot in the typical way because it doesn’t have enough blood-clotting proteins (clotting factors). If you have hemophilia, you might bleed for a longer time after an injury than you would if your blood clotted properly.

Hemophilia is almost always a genetic disorder. Treatment includes regular replacement of the specific clotting factor that is reduced. Newer therapies that don’t contain clotting factors also are being used.

The biggest risk factor for hemophilia is to have family members who also have the disorder. Males are much more likely to have hemophilia than are females.”

MAYO CLINIC (Hemophilia – Symptoms and causes – Mayo Clinic)

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.

“Immune thrombocytopenia-ITP is rare. Each year, about 4 in 100,000 children and 3 in 100,000 adults in the United States learn they have this condition.

Types of immune thrombocytopenia

The two ITP types are:

• Primary ITP: This is when your immune system attacks your platelets. About 80% of all cases are primary ITP. Healthcare providers may call immune thrombocytopenia an autoimmune disorder.
• Secondary ITP: This may happen if you have underlying conditions like chronic infections, blood cancers or autoimmune disorders that affect your platelet levels.”

Cleveland Clinic (Immune Thrombocytopenia (ITP): Symptoms, Diagnosis & Treatment)

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, rare factor deficiencies, and platelet disorders.

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

National Bleeding Disorders Foundation (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.

“The brain sends and receives chemical and electrical signals throughout the body. Different signals control different processes, and your brain interprets each. Some make you feel tired, for example, while others make you feel pain.

Some messages are kept within the brain, while others are relayed through the spine and across the body’s vast network of nerves to distant extremities. To do this, the central nervous system relies on billions of neurons (nerve cells).”

John Hopkins Medicine (Brain Anatomy and How the Brain Works | Johns Hopkins Medicine)

IIlustration body part,human brain left and right functions

The brain is like a committee of experts. All the parts of the brain work together, but each part has its own special properties. The brain can be divided into three basic units: 1 the forebrain, 2 the midbrain, and 3 the hindbrain.

1-THE CEREBRUM (The Forebrain) AND ITS FUNCTIONS:  Knowing what part of the cerebrum, if the brain injury is their, can explain the reasons for the symptoms the individual is having.

1-The forebrain is the largest and most highly developed part of the human brain: it consists primarily of the cerebrum and the structures hidden beneath it, which is the inner brain.

THE REGIONS (The 4 LOBES) THAT MAKE UP THE CEREBRUM:

The cerebrum, the large, outer part of the brain, controls reading, thinking, learning, speech, emotions and planned muscle movements like walking. It also controls vision, hearing and other senses. The cerebrum is divided two cerebral hemispheres (halves): left and right. The right half controls the left side of the body. The left half controls the right side of the body.

Each hemisphere has four sections, called lobes: frontal, parietal, temporal and occipital.  A lobe simply means a part of an organ (earlobe for example).  Each lobe controls specific functions. For example, the frontal lobe controls personality, decision-making and reasoning, while the temporal lobe controls, memory, speech, and sense of smell.

–The frontal lobe is the largest lobe of the brain.  The frontal lobe are the last parts of the brain develop as a person ages and the part of the human brain that is most different from other mammals and primates.  The last part to mature is the prefrontal lobe. This happens during adolescence. Many things affect brain development including genetics, individual and environmental factors.  We learn to become adults in our frontal lobes.   You choose between good and bad actions; override and suppress socially unacceptable responses; and determine similarities and differences between objects or situations. The frontal lobe is considered to be the moral center of the brain because it is responsible for advanced decision making processes. It also plays an important role in retaining emotional memories derived from the limbic system, and modifying those emotions to fit socially accepted norms.  The frontal lobes are considered our emotional control center and home to our personality. There is no other part of the brain where lesions can cause such a wide variety of symptoms (Kolb & Wishaw, 1990). The frontal lobes are involved in motor function, problem solving, spontaneity, memory, language, initiation, judgment, impulse control, and social and sexual behavior. Frontal lobe damage effects one or more of these areas depending on the severity of the damage.  The frontal lobes are extremely vulnerable to injury due to their location at the front of the cranium, proximity to the sphenoid wing and their large size. MRI studies have shown that the frontal area is the most common region of injury following mild to moderate traumatic brain injury.

–The parietal lobes can be divided into two functional regions. One involves sensation and perception and the other is concerned with integrating sensory input, primarily with the visual system. The first function integrates sensory information to form a single perception (cognition).  The parietal lobes have an important role in integrating our senses. In most people the left side parietal lobe is thought of as dominant because of the way it structures information to allow us to read & write, make calculations, perceive objects normally and produce language. Damage to the dominant parietal lobe can lead to Gerstmann’s syndrome (e.g. can’t tell left from right, can’t point to named fingers), apraxia and sensory impairment (e.g. touch, pain). Damage to the non-dominant lobe, usually the right side of the brain, will result in different problems. This non-dominant lobe receives information from the occipital lobe and helps provide us with a ‘picture’ of the world around us. Damage may result in an inability to recognize faces, surroundings or objects (visual agnosia). So, someone may recognize your voice, but not your appearance (you sound like my daughter, but you’re not her). Damage to the parietal lobe depends on severity and location of the area. Because this lobe also has a role in helping us locate objects in our personal space, any damage can lead to problems in skilled movements (constructional apraxia) leading to difficulties in drawing or picking objects up.

–The temporal lobes they are in the section of the brain located on the sides of the head behind the temples and cheekbones.   It’s responsible for processing auditory information from the ears (hearing).   The temporal lobes play an important role in organizing sensory input, auditory perception, language and speech production, as well as short term memory association and formation. The Temporal Lobe mainly revolves around hearing and selective listening. It receives sensory information such as sounds and speech from the ears. It is also the key to being able to comprehend, or understand meaningful speech. In fact, we would not be able to understand someone talking to us, if it wasn’t for the temporal lobe. This lobe is special because it makes sense of the all the different sounds and pitches (different types of sound) being transmitted from the sensory receptors of the ears. Temporal Lobes Kolb & Wishaw (1990) have identified eight principle symptoms of temporal lobe damage: 1) disturbance of auditory sensation and perception, 2) disturbance of selective attention of auditory and visual input, 3) disorders of visual perception, 4) impaired organization and categorization of verbal material, 5) disturbance of language comprehension, 6) impaired long-term memory, 7) altered personality and affective behavior, 8) altered sexual behavior. These can be due to tumors on the right or left side of the temporal lobe, due to seizures in the temporal lobe and if seizures regularly happen to this individual in the temporal region, which causes lack of oxygen to that area of that area of the brain it will effect one or more of the functions of that lobe which we discussed earlier, listed above.

-The last region or lobe that makes up the cerebrum is the occipital lobe. The occipital lobe is important to being able to correctly understand what our eyes are seeing. These lobes have to be very fast to process the rapid information that our eyes are sending. This is similar to how the temporal lobe makes sense of auditory information, the occipital lobe makes sense of visual information so that we are able to understand it. If our occipital lobe was impaired or injured we would not be able to correctly process visual signals, thus visual confusion would result.

2-Midbrain – The uppermost part of the brainstem is the midbrain, which controls some reflex actions and is part of the circuit involved in the control of eye movements and other voluntary movements.

3-The hindbrain includes the upper part of the spinal cord, the brain stem, and a wrinkled ball of tissue called the cerebellum. The hindbrain controls the body’s vital functions such as respiration and heart rate. The cerebellum coordinates movement and is involved in learned rote movements. Rote means “mechanical or habitual repetition of something to be learned.”. Rote learning is flashcards, times tables, any kind of memorization-based learning. Rote movement applies to activities we do in a mechanical, repetitive way. Running, for example.  When you play the piano or hit a tennis ball you are activating the cerebellum= balance/coordination.

“Chronic kidney disease (CKD) is when the kidneys have become damaged over time (for at least 3 months) and have a hard time doing all their important jobs. CKD also increases the risk of other health problems like heart disease and stroke. Developing CKD is usually a very slow process with very few symptoms at first. So, CKD is divided into 5 stages to help guide treatment decisions.”

National Kidney Foundation

(Chronic kidney disease (CKD) – Symptoms, causes, treatment | National Kidney Foundation)

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)