QUOTE FOR THURSDAY:

“Based on the most recent data available, in the United States in 2021, 141,902 new colorectal cancers were reported and in 2022, 52,967 people died from colorectal cancer.

From 2017 to 2021, about 1 in 3 colorectal cancer cases were diagnosed at a localized stage, meaning the cancer had not spread outside the colon or rectum. Almost 4 in 10 colorectal cancers were found at a regional stage (the cancer had spread to nearby lymph nodes, tissues, or organs), and about 2 in 10 were found at a distant stage (the cancer had spread to distant parts of the body).

Overall, 64% of colorectal cancer patients had not died from their cancer 5 years later. However, survival varied by stage at diagnosis.

Survival is higher when colorectal cancer is found before it spreads to other parts of the body. Screening tests can prevent colorectal cancer or find it early, when treatment works best.”

Center for Disease Control and Prevention – CDC (U.S. Cancer Statistics Colorectal Cancer Stat Bite | U.S. Cancer Statistics | CDC)

 

 

Part III Colorectal Cancer Awareness Month-Treatments from stages II to IV.


Stage II colorectal cancer is divided into three subcategories: IIA, IIB and IIC.

The difference between the categories lies in the extent to which the cancer has spread.

  • Stage IIA (T3, N0, M0): The cancer has grown into the outermost layers of the colon or rectum, but has not grown through them. It has not reached nearby organs or lymph nodes, and has not spread to distant organs.
  • Stage IIB (T4a, N0, M0): The cancer has grown through all of the layers of the colon or rectum, but has not grown into other organs or tissues.
  • Stage IIC (T4b, N0, M0): The cancer has grown through all of the layers of the colon or rectum, and has grown into nearby organs or tissues. The cancer has not spread to the lymph nodes Surgery
  • Initial treatment for stage II colon cancer is surgery to remove the section of colon that contains the tumor and surrounding tissue with its blood vessels and lymph nodes.
  • The most commonly recommended protocols for patients diagnosed with stage II colon cancer:

Colectomy

A colectomy (or colon resection) is abdominal surgery that removes the section of colon where the tumor is located, tissue containing blood and lymph vessels surrounding the colon (mesentery), healthy tissue margins on either side and, if possible, at least 12 lymph nodes.  Then the remaining ends of colon are reconnected with sutures or staples.  This connection is called an anastomosis.

There are two types of surgery:

  • Open colectomy:  An incision is made in the abdomen, surgery performed through the opening, and the incision closed with sutures and/or staples.
  • Laparoscopic colectomy:  Three small keyhole incisions are made in the abdomen to insert a lighted instrument and specially designed surgical instruments that can be manipulated within the abdomen.  Sometimes an incision is made just long enough for the surgeon’s hand to assist during laparoscopy. This is also known as minimally invasive surgery.If your lymph nodes are cancer-free (also known as node-negative), your diagnosis is stage II colon cancer
  • The tumor, tissue on either side of it (the margins), and fat and lymph nodes attached to the colon are removed for further study by a pathologist.  The pathologist evaluates the cancer cells in the tumor itself, looks for cancer in the margins and other tissue, and studies as many lymph nodes as possible in order to provide an accurate diagnosis.

Chemotherapy

Treatment of node-negative stage II colon cancer is controversial. While surgery to remove the tumor in the colon is universally accepted as initial treatment, the value of chemotherapy after that surgery to keep cancer from recurring (coming back) is hard for patients and doctors to judge.

It’s estimated that between four and five percent of patients with stage II colon cancer will benefit from chemotherapy. However, there are also side effects, some severe, associated with chemotherapy. Very few patients will die as a result of chemotherapy.

Because of the risks of treatment, researchers are looking for ways to identify patients who are at higher risk for recurrence, who are most likely to benefit from chemotherapy.

Some factors have been identified that lead to higher risk for stage II patients including:

  • T4 tumors that extend beyond the outer wall of the colon into adjacent tissues and organs
  • Too few lymph nodes removed and examined (less than 12)
  • Cancer cells in blood and lymph vessels surrounding the tumor (not the same as lymph nodes)
  • Undifferentiated or poorly differentiated tumors
  • Perforation (a hole) of the colon by the tumor
  • A tumor that obstructs (closes off) the colonFor high-risk stage II patients, the number needed to prevent one recurrence or death is smaller, probably 15 to 30 patients.
  • It may help your decision to think about the problem in terms of numbers:  In order to prevent one recurrence or death from all cases of stage II colon cancer, 25 to 50 patients need to receive chemotherapy. One in six of those patients will have a severe side effect; one in 100 to 200 will die as a result of treatment.

Chemotherapy regimens for high-risk stage II colon cancer:

  • FOLFOX:  combination treatment with infusional 5-FU (fluorouracil), leucovorin, and oxaliplatin
  • FLOX: combination with bolus 5-FU, leucovorin, and oxaliplatin (severe diarrhea is more common with FLOX than FOLFOX but outcomes are similar)
  • Xeloda (capecitabine): oral “prodrug” which is converted to 5-FU in the tumor
  • 5-FU and leucovorinThere are some indicators of a patient’s risk of recurrence of their cancer, but no clear information that higher risk means they may benefit from therapy  — thus there are research efforts underway to better define “risk” and develop treatments that will benefit the higher risk patient in a predictable way.
  • Stage III colorectal cancer treatments:In this article
  • Your doctor can discuss the advantages and disadvantages of the different chemotherapy regimens if you decide to proceed with chemotherapy after your surgery.  Chemotherapy usually lasts about six months.

Stage III Colorectal Cancer Treatments

Stage III colorectal cancers have spread outside the colon to one or more lymph nodes (small structures that are found throughout the body that produce and store cells that fight infection). Tumors within the colon wall, which also involve the lymph nodes are classified as stage IIIA, while tumors that have grown through the colon wall and have spread to one to four lymph nodes are classified as stage IIIB cancers. Those tumors, which have spread to more than four lymph nodes are classified as stage IIIC colon cancers.

Treatment involves:

  • Surgery to remove the tumor and all involved lymph nodes if possible.
  • After surgery, the patient will receive chemotherapy with 5-FU, leucovorin and oxaliplatin, capecitabine with oxaliplatin or capecitabine alone.
  • Radiation may be needed if the tumor is large and invading the tissue surrounding the colon.

The five-year survival rate for stage III colon cancer is about 64%. Patients with one to four positive lymph nodes have a higher survival rate than people with more than five positive lymph nodes.

 Stage IV Colorectal cancer treatments:

Stage IV colorectal cancers have spread outside the colon to other parts of the body, such as the liver or the lungs. Cancer that has spread is also called “metastatic.” The tumor can be any size and may or may not include affected lymph nodes (small structures that are found throughout the body that produce and store cells that fight infection).

Treatment may include:

  • Removal of the cancer surgically or another surgical procedure to bypass the colon cancer and hook up healthy colon (an anastomosis).
  • Surgery to remove parts of other organs such as the liver, lungs, and ovaries, where the cancer may have spread.
  • Chemotherapy to relieve symptoms and improve survival.
  • Erbitux, Avastin, or Vectibix in combination with standard chemotherapy, depending upon tumor characteristics.
  • Zaltrap is a drug also approved for use with chemotherapy in cases where the cancer has progressed or is resistant to treatment.
  • Stivarga is a targeted therapy approved in patients whose cancer has progressed after previous therapy.
  • Clinical trials of new chemotherapy regimens, or immunological therapy.
  • Radiation to relieve symptoms.

The five-year survival rate for stage IV colon cancer is nearly 8% or less.

QUOTE FOR WEDNESDAY:

“After someone is diagnosed with colorectal cancer, doctors will try to figure out if it has spread, and if so, how far. This process is called staging. The stage of a cancer describes how much cancer is in the body. It helps determine how serious the cancer is and how best to treat it. Doctors also use a cancer’s stage when talking about survival statistics.

The earliest stage of colorectal cancers is called stage 0 (a very early cancer), and then range from stages I (1) through IV (4). As a rule, the lower the number, the less the cancer has spread.

The staging system most often used for colorectal cancer is the American Joint Committee on Cancer (AJCC) TNM system, which is based on 3 key pieces of information:

  • The extent (size) of the tumor (T): How far has the cancer grown into the wall of the colon or rectum? These layers,from the inner to the outer.
  • The spread to nearby lymph nodes (N): Has the cancer spread to nearby lymph nodes?
  • The spread (metastasis) to distant sites (M): Has the cancer spread to distant lymph nodes or distant organs such as the liver or lungs
  • The system described below is the most recent AJCC system effective January 2018. It uses the pathologic stage (also called the surgical stage), which is determined by examining tissue removed during an operation. This is also known as surgical staging. This is likely to be more accurate than clinical staging, which takes into account the results of a physical exam, biopsies, and imaging tests, done before surgery.
  • Numbers or letters after T, N, and M provide more details about each of these factors. Higher numbers mean the cancer is more advanced. Once a person’s T, N, and M categories have been determined, this information is combined in a process called stage grouping to assign an overall stage.”.

American Cancer Society (Colorectal Cancer Stages | Rectal Cancer Staging | Colon Cancer Staging | American Cancer Society)

Part II Colorectal Cancer Awareness Month – Treatment on stages O and I of colonrectal cancer.

colorectal-cANCER PERCENTAGE IN RISKSCOLORECTAL CANCER 2

Part II Treatment & Care

Many colon cancer treatment options are available for colorectal cancer, including surgery, chemotherapy, and radiation. Here’s what to expect from each type of treatment and tips for recovery.

Polyp Removal and Other Precancerous Conditions

Precancerous conditions of the colon or rectum are changes to cells that make them more likely to develop into cancer. These conditions are not yet cancer, but there is a higher chance these abnormal changes will become colorectal cancer.

The most common precancerous conditions of the colon or rectum area:

adenomas

hereditary colorectal syndromes

If you have a precancerous condition, you will likely have regular follow-up and screening tests to find cancer as early as possible if it develops. Some precancerous conditions can be treated with surgery to help reduce the risk that they will become cancer.

Colorectal Cancer Treatment

Stages of the cancer with TNM system for colorectal cancer helps determine the RX.

The most commonly used colorectal cancer staging system is known as the TNM system, which has been established by the American Joint Committee on Cancer. The TNM staging system looks at three key factors to determine the stage of cancer:

  • Tumor (T) looks at how far the primary tumor has grown into the wall of the colon or rectum, and if it has expanded into nearby areas.
  • Lymph node (N) examines the extent of the cancer spread to nearby lymph nodes.
  • Metastasis (M) refers to whether cancer has spread to other parts of the body, such as the liver, lungs or brain.

A number (0-4 stages) or the letter X is assigned to each factor. Using this colorectal cancer staging system, a higher number indicates increasing severity. For instance, a T1 score indicates a smaller tumor than a T2 score. The letter X means the information could not be assessed.

Stages of colorectal cancer diagnosis occurs in conjunction with the following TNM categories:

  • T1-T2: If the cancer has grown through the muscularis mucosa and into the submucosa, it is considered T1. Or, if the cancer has grown into the muscularis propria, then it is classified as T2.
  • N0: The cancer has not spread to the lymph nodes.
  • M0: There has been no spreading to organs or other nearby areas
  • Stage I colorectal cancer treatments

Once the T, N and M scores have been assigned, an overall stage is determined, and thus treatment options can be explored.

Here’s a quick rundown of the options available for colorectal cancer treatment from surgery to cutting-edge biologic therapy.

Colorectal Cancer: Treatment by Stages

STAGE 0 (IN SITU) Colorectal Cancer Treatment

Surgery for colon cancer

  • Polypectomy: snaring and removing polyps containing cancer during a colonoscopy.
  • Local excision: removal of flat colon growths “piecemeal” during colonoscopy.
  • Open abdominal surgery to remove cancer, part of colon, and nearby lymph nodes in high risk situations where:
    • There is a spread to polyp stalk
    • There is spread to lymphatic vessels (not lymph nodes)
    • Cells look very abnormal under the microscope (high grade)
    • Surgical margins (edge of tissue) contain cancer cells or can’t be evaluated or contain cancer cells.
    • Local excision would be too time-consuming or difficult to perform.

Chemotherapy

Chemotherapy is not recommended for stage 0 colon cancer.

Stage I Colorectal Cancer Treatment

Surgery

Colectomy (resection): Abdominal surgery to remove the section of colon where the tumor is located, tissue containing blood and lymph vessels surrounding the colon (mesentery), healthy tissue margins on either side, and at least 12 lymph nodes, if possible. Then the remaining ends of colon are reconnected with sutures or staples. This connection is called an anastomosis.

Open colectomy: An incision is made in the abdomen, surgery performed through the opening, and the incision closed with sutures and/or staples.

Laparoscopic colectomy: Three small keyhole incisions are made to insert a lighted instrument and specially designed surgical instruments that can be manipulated within the abdomen. Sometimes an incision is made just long enough for the surgeon’s hand to assist during laparoscopy.

Chemotherapy

Chemotherapy is not recommended for stage I colon cancer.

Part III on continuation of treatments of other stages of this condition (Stage II & III)

QUOTE FOR TUESDAY:

“Your risk of getting colorectal cancer increases as you get older. Other risk factors include having:

  • Inflammatory bowel disease such as Crohn’s disease or ulcerative colitis.
  • A personal or family history of colorectal cancer or colorectal polyps.
  • A genetic syndrome such as familial adenomatous polyposis (FAP) or hereditary non-polyposis colorectal cancer (Lynch syndrome).”

Center for Disease Control and Prevention – CDC (https://www.cdc.gov/colorectal-cancer/risk-factors/index.html)

Part I Colorectal Cancer Awareness Month

colorectal cancer2 colorectal cancer1

Colorectal cancer is cancer that develops in the tissues of the colon and/or rectum. The colon and the rectum are both found in the lower part of the gastrointestinal (digestive) system. They form a long, muscular tube called the large intestine (or large bowel). The colon absorbs food and water and stores waste. The rectum is responsible for passing waste from the body.

If the cancer began in the colon, which is the first four to five feet of the large intestine, it may be referred to as colon cancer. If the cancer began in the rectum, which is the last several inches of the large intestine leading to the anus, it is called rectal cancer.

Colorectal cancer starts in the inner lining of the colon and/or rectum, slowly growing through some or all of its layers. It typically starts as a growth of tissue called a polyp. A particular type of polyp, called an adenoma, can then develop into cancer.

Adenocarcinoma is the most common type of colorectal cancer. Other colorectal cancers include gastrointestinal carcinoid tumors, gastrointestinal stromal tumors, primary colorectal lymphoma, leiomyosarcoma, melanoma and squamous cell carcinoma.

Cancer is a disease in which cells in the body grow out of control. When cancer starts in the colon or rectum, it is called colorectal cancer. Sometimes it is called colon cancer, for short.

Colorectal cancer affects men and women of all racial and ethnic groups, and is most often found in people aged 50 years or older. In the United States, it is the third most common cancer for men and women.

Of cancers that affect both men and women, colorectal cancer is the second leading cancer killer in the United States, but it doesn’t have to be.

Colorectal cancer screening saves lives.

Screening can find precancerous polyps—abnormal growths in the colon or rectum—so that they can be removed before turning into cancer. Screening also helps find colorectal cancer at an early stage, when treatment often leads to a cure. About nine out of every 10 people whose colorectal cancers are found early and treated appropriately are still alive five years later.

If you are aged 50 or older, get screened now. If you think you may be at higher than average risk for colorectal cancer, speak with your doctor about getting screened early.

While screening rates have increased in the U.S., not enough people are getting screened for colorectal cancer. In 2012, 65% of U.S. adults were up-to-date with colorectal cancer screening; 7% had been screened, but were not up-to-date; and 28% had never been screened.

Your risk of getting colorectal cancer increases as you get older. More than 90% of cases occur in people who are 50 years old or older.

Other risk factors include having:

*Inflammatory bowel disease, Crohn’s disease, or ulcerative colitis.

*A personal or family history of colorectal cancer or colorectal polyps.

*A genetic syndrome such as familial adenomatous polyposis (FAP)hereditary non-polyposis colorectal cancer (Lynch syndrome).

Lifestyle factors that may contribute to an increased risk of colorectal cancer include—

  • Lack of regular physical activity.
  • Low fruit and vegetable intake.
  • A low-fiber and high-fat diet.
  • Overweight and obesity.
  • Alcohol consumption.
  • Tobacco use. *Rectal bleeding or blood in your stool.
  • *Diagnosing colorectal cancer:Treatment & Care
  • Tests. Finding colon cancer early is key to beating it. That’s why doctors recommend a yearly fecal occult blood test, which tests for invisible blood in the stool, an early sign of colon cancer. One of the best tools for detecting colorectal cancer is a colonoscopy.
  • *Persistent abdominal discomfort, such as cramps, gas or pain.
  • *A change in your bowel habits, including diarrhea or constipation or a change in the consistency of your stool, that lasts longer than four weeks.
  • *Signs and symptoms of colon-rectal cancer include:
  • Many colon cancer treatment options are available for colorectal cancer, including surgery, chemotherapy, and radiation. Here’s what to expect from each type of treatment and tips for recovery.

*Treatment= Get details on treatment on Part II tomorrow’s article Thurs.

Colon Polyp Removal and Other Precancerous Conditions

Learn how colon polyps are removed and why it’s so important to stay on top of these and other precancerous conditions.

Colorectal Cancer Treatment

Here’s a quick rundown of the options available for colorectal cancer treatment from surgery to cutting-edge biologic therapy.

Colon Cancer: Treatment by Stage

Here you’ll find detailed information on how the various stages of colon cancer are treated — from stage 0 to stage IV and also recurrent colon cancer.

Rectal Cancer Treatment by Stage

Here you’ll find detailed information on how the various stages of rectal cancer are treated — from stage 0 to stage IV and also recurrent rectal cancer.

Colon Cancer Chemotherapy

Learn about the different ways chemotherapy is used to treat colon cancer and rectal cancer and the side effects of commonly used chemotherapy drugs.

QUOTE FOR MONDAY:

“Hemophilia statistics by CDC:

  • 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.
  • Among all males with hemophilia, just over 4 in 10 have the severe form of the disorder.”

Center for Disease Control and Prevention-CDC (https://www.cdc.gov/hemophilia/data-research/index.html)

Part IV Bleeding Disorder Month Awareness: Hemophilia-Treatments!

Treatment Options for Bleeding Disorders

There are many different types of therapies for bleeding disorders, and new ones are in development. Each person may respond to a treatment in their own way, so it is important to work closely with your hematologist to find a treatment that works for you.

Gene therapy is a way of treating a genetic disease or disorder by providing people with working copies of the gene to correct the disease or disorder. There are different approaches to gene therapy, including gene transfer and gene editing.

Currently, gene therapies for Hemophilia A and Hemophilia B work differently in the body and have different results. It is important that you work with your Hemophilia Treatment Center to learn more about gene therapy, to determine if you are eligible, to make certain you understand the risks and benefits, and to ensure you have the information you need to make the best decision for you.

Factor replacement therapies: Often referred to as “factor,” these products use a molecule that is either similar to natural factor found in humans (recombinant) or use an actual human molecule (plasma derived.) These treatments increase the amount of factor in the body to levels that lead to better clotting, and therefore less bleeding. The therapy is taken intravenously via an injection into a vein. This process is also called “infusion.” There are two types of factor replacement therapies: standard half-life (SHL) and extended half-life (EHL)

  • Standard half-life therapies: Standard half-life therapies are used to treat hemophilia A and B, some types of von Willebrand disease, and some rare factor disorders. Dosing can be anywhere from three times a week to every day, depending on the person.
  • Extended half-life (EHL) therapies: EHL contains a molecule that has been modified in some way to delay the breaking down of factor in the body. This results in higher levels of factor in the body lasting for longer, resulting in less frequent infusions. How long the factor is effective in the body depends on the person. Extended half-life therapies are mostly used to treat hemophilia A and B.
  • Bypassing agents are used to treat bleeds in people with hemophilia with inhibitors. These treatments contain other factors that can stimulate the formation of a clot and stop bleeding.

Non-factor replacement therapies: These products help prevent bleeding or assist in better clotting using other methods in the body besides factor replacement therapy. Non-factor replacement therapies include:

Hemophilia B gene therapy has been approved by the FDA for the treatment of adults with hemophilia B who currently use factor IX (FIX) prophylaxis therapy, or have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

Also used is the following:

  • Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. It is known as a factor VIII(8) mimetic because it mimics, or imitates, the way factor VIII(8) works. It brings together factor IX(9) and factor X (10), which allows the blood to clot. Unlike factor replacement therapy, in which the missing factor is injected directly into a person’s vein (called an infusion), emicizumab is given by an injection under the skin, called a subcutaneous injection. Emicizumab was approved by the FDA to treat people with hemophilia A with inhibitors in 2017 and for people with hemophilia A without inhibitors in 2018.
  • Desmopressin (DDAVP) is the synthetic version of vasopressin, a natural antidiuretic hormone that helps stop bleeding. In patients with mild hemophilia, it can be used for joint and muscle bleeds, for nose and mouth bleeds, and before and after surgery. It comes in an injectable form and a nasal spray. The manufacturer of DDAVP nasal spray issued a recall of all US products and does not expect to begin resupplying until 2022. DDAVP is used to treat von Willebrand disease and mild hemophilia A.
  • Aminocaproic acid (Amicar) prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid. MASAC recommends that a dose of clotting factor be taken first to form a clot, then aminocaproic acid, to preserve the clot and keep it from being broken down prematurely. This can be used to manage bleeding in people with hemophilia A, B and VWD.
  • Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing mutation in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing mutations in more than 99 percent of individuals who have hemophilia B.
  • Researchers have been working to develop a gene replacement treatment (gene therapy) for Hemophilia A. Research of gene therapy for hemophilia A is now taking place. The results are encouraging. Researchers continue to evaluate the long-term safety of gene therapies. The hope is that there will be a genetic cure for hemophilia in the future.
  • HEMGENIX, came about 2023,it is a adeno-associated virus vector-based gene therapy indicated for treatment of adults with Hemophilia B (congenital Factor IX deficiency) who:
    • Currently use Factor IX prophylaxis therapy, or
    • Have current or historical life-threatening hemorrhage, or
    • Have repeated, serious spontaneous bleeding episodes.

QUOTE FOR THE WEEKEND:

“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)

Part III Bleeding Disorder Month Awareness:Hemophilia-What it is and how its diagnosed!

hemophilia3 hemophilia2

hemophilia1

hemodialysis explained

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.