Blood Disorders List
If you or someone you love has been diagnosed with a blood disorder, you will have many questions. Following are some links pertaining to information on blood disorders. If you still have questions, please speak to your physician or call us at (833) 756-3566.
Anemia of Chronic Disease
Anemia of chronic disease develops as a result of a long-term infection or an inflammatory disease. Certain chronic diseases and inflammatory conditions cause several changes in the blood production system. These include a shortened life spam of the blood cell and a decrease in the amount of iron available to make red blood cells. A low to moderate chronic anemia results.
Conditions associated with anemia of chronic disease include:
How Is Anemia Of Chronic Disease Diagnosed?
A simple blood test and health history is used to diagnose anemia of chronic disease. Patients should tell the physician all symptoms they are having. Additional test such as a bone marrow aspiration and biopsy may be done to rule out other conditions. A colonoscopy may be done to rule out blood loss from the colon.
What Are Symptoms Of Anemia Of Chronic Disease?
Anemia of chronic disease develops slowly and is often mild so there are no symptoms. When there are symptoms, they vary but may include paleness of the skin, lack of energy, headache, shortness of breath, dizziness, and heart palpitations.
How Is Anemia Of Chronic Disease Treated?
This type of anemia often responds to treatment of the primary disease. Medications can also be used to treat the anemia. Blood transfusions are rarely necessary.
Aplastic Anemia
The bone marrow is the place where blood cells mature. If the bone marrow is damaged, it can shut down. This bone marrow failure is called aplastic anemia.
What Causes Aplastic Anemia?
The most common cause of aplastic anemia is an autoimmune disorder where the body recognizes its own self as foreign and attacks it. Other causes include infection with parvovirus, radiation exposure, toxins, and chemotherapy drugs. The bone marrow failure leads to too few red blood cells, white blood cells, and platelets.
What Are Symptoms Of Aplastic Anemia?
Common symptoms are weakness, fatigue, paleness, infections and easy bruising.
How Is Aplastic Anemia Diagnosed?
Diagnosis is made by sampling the bone marrow (bone marrow aspiration and biopsy). The bone marrow shows a sharp decrease in the number of stem cells. Stem cells are the cells that red blood cells, white blood cells, and platelets are made from.
How Is Aplastic Anemia Treated?
Prompt treatment of aplastic anemia is essential. Transfusions with red blood cells and platelets may be necessary to temporarily increase the number of cells. Bone marrow transplant can cure aplastic anemia in younger people. Older adults and those without a suitable bone marrow match are often treated with steroids and other medications to suppress the immune system.
Erythrocytosis
Erythrocytosis is defined as an excess of erythrocytes or red blood cells. Red blood cells carry oxygen through the body. There are several different kinds of erythrocytosis and the most common is polycythemia. Your doctor will be able to establish the type of erythrocytosis you have.
Hemochromatosis
Hemochromotosis is a disorder characterized by iron overload. The body absorbs and stores too much iron. Our bodies do not have a mechanism to get rid of extra iron. Iron plays a major role in developing mature red blood cells. Patients with hemochromatosis have normal iron intake levels, but abnormal regulation of iron absorption. This results in increased iron absorption and leads to overload. Iron overload first occurs in the liver where most of the iron is stored. The extra iron builds up in organs and damages them. Without treatment, the disease can cause organs to fail.
Hemochromotosis is often a genetic disorder passed on from a parent. The parent passes on a defective gene called HFE, which is responsible for regulating the amount of iron the body absorbs. Patients who are transfusion dependent are also at risk for hemochromatosis. Red blood cell transfusions contain iron which builds up in the body and can affect organs.
What Are Symptoms Of Hemochromatosis?
Joint pain is the most common complaint of people with hemochromatosis. Other symptoms include fatigue, abdominal pain, changes in the color of the skin (bronze color), shortness of breath, swelling, increased thirst, loss of sex drive, and heart problems. Signs and symptoms are related to accumulation of iron in the body’s organs.
How Is Hemochromatosis Diagnosed?
Hemochromatosis can generally be diagnosed by using blood tests.
What Is The Treatment For Hemochromotosis?
In patients with genetic hemochromotosis, therapeutic phlebotomy (removal of a unit of blood) will generally manage the disease. Therapeutic phlebotomy can be performed at ILCC Peoria, Bloomington and Galesburg locations. In transfusion dependent patients, therapeutic phlebotomy is not feasible. Iron chelation therapy may be used. Several medications are available to treat iron overload. Your physician will choose the medication that is best for you. Patients should limit the amount of dietary iron they consume. Multivitamins with iron and iron supplements should be avoided.
Hypercoagulable Disorder
A hypercoagulable disorder is an inherited or acquired condition that increases the risk of excessive blood clot formation. When a blood vessel is injured, it begins to leak blood either externally or into the tissues. The body stops the blood loss through a complex clotting process.
Hypercoagulable disorders occur when something goes wrong with a step in the clotting process. If the clotting process is flawed, there can be inappropriate and/or excessive blood clot formation. Blood clots may break off and travel to another part of the body where they can block blood vessels.
Certain genetic mutations can predispose someone to hypercoagulable states. Other disorders that can cause hypercoagulable disorders are liver disease and some cancers. Hypercoagulable disorders can sometimes be managed with medications.
Immune Thrombocytopenic Purpura
What Is Immune Thrombocytopenic Purpura (ITP)?
ITP is an autoimmune disease, also known as Idiopathic Thombocytopenic Purpura. In autoimmune diseases the body mounts an immune attack toward normal organ systems or body functions. In ITP, the platelets are the target. Platelets are the blood cells that help to clot our blood when we are bleeding. Because platelets are destroyed, people with ITP are at risk for bleeding.
What Causes ITP?
The specific cause is unknown. Some cases appear after a viral or bacterial infection, after exposure to a toxin or in association with another illness such as lupus. It is important for you to recall for your doctor what was happening in your life before you began having a low platelet count.
What Is A Normal Platelet Count?
A normal platelet count ranges from 150,000-400,000. Patients with severe ITP have platelet counts less than 10,000.
What Are The Symptoms Of ITP?
The symptoms vary from person to person. Most people will begin to bruise easily; some will have petechiae, which are red dots on the skin caused by leaks in the capillary walls. People may also have nosebleeds or blood in the urine or stool. The more bleeding, the lower the platelet count is apt to be.
How Is ITP Diagnosed?
Your physician will rule out other causes of your low platelets. If no other cause is found, it is assumed that you have ITP. There is no definitive test for ITP. Your workup to rule out other causes may include blood tests and a bone marrow biopsy.
How Is ITP Treated?
There are several treatments for ITP. Steroids and gammaglobulin infusions are some of the most common. In some cases, removal of the spleen may be recommended and chemotherapy may also be necessary. Be sure you ask your doctor about the possible treatments and the associated benefits and toxicities of each treatment.
Can ITP Be Cured?
Some cases of ITP are acute and only last a few months. Some are chronic and linger for years. Some go into remission for a long time. The course of the disease is unpredictable, but most people lead normal lives. Be sure to follow up with your physician as directed and report any new symptoms that may indicate that your platelet count has dropped again.
Iron Deficiency Anemia
The most common cause of anemia is iron deficiency anemia. Iron is needed to form hemoglobin. Hemoglobin is contained in red blood cells and delivers oxygen to parts of the body.
What Causes Iron Deficiency Anemia?
Causes include a diet low in iron, body changes, GI tract abnormalities, blood loss.
What Are Symptoms Of Iron Deficiency Anemia?
Common symptoms can include abnormal paleness of the skin, irritability, lack of energy, increased heart rate, shortness of breath, a desire to eat peculiar substances, such as dirt or ice (a condition called pica). Individual symptoms may vary.
How Is The Diagnosis Made?
Iron deficiency anemia is usually discovered during a medical examination through a blood test. Physicians may suspect iron deficiency anemia based on the symptoms the patient reports. The blood test measures the amount of hemoglobin present in red blood cells and the amount of iron in the blood. In order to rule out other conditions that may be causing the iron deficiency anemia, the physician may orders other tests, such as a bone marrow aspiration and biopsy. A colonoscopy may be performed to check the colon for areas of blood loss.
How Is Iron Deficiency Anemia Treated?
Treatments may include an iron rich diet and iron supplements. Foods high in iron include:
Iron supplements can be taken to increase iron levels. Supplements can cause irritation of the stomach and cause stools to become black in color. Iron supplements should be taken on an empty stomach or with orange juice to increase absorption.
Sometimes people either cannot tolerate iron supplements or they are simply not absorbing iron. Iron must then be supplemented through an IV or an injection into the hip. Your doctor will tell you the best way for you to get this supplementation. Some people can have an allergic reaction to iron. A small test dose is always given first to make sure you are not allergic to the iron supplements.
Leucocytosis
Leucocytosis is an elevation in the white blood cell count. In some cases, an elevated white blood cell count is the body’s normal response to inflammation or infection. When there is inflammation or infection, the body makes more white blood cells because they fight off the infection. Once the infection or source of inflammation is eliminated, the white blood cell count should return to normal. In some cases, the white blood cell count does not return to normal and no infection or source of inflammation can be found. This may indicate something more serious, so your physician may refer you to a hematologist. An elevation in the white blood cell count is very non-specific and does not point to one single abnormality. The hematologist will need to do further testing to determine the cause of the elevation.
Leucopenia
Leucopenia is a decrease in the number of white blood cells, which puts a person at risk for infection. Normally when a person has infection or inflammation, the number of white blood cells increases so there are more cells to fight the infection with. In some cases though, the infection actually destroys white blood cells, leaving the number decreased. White blood cells can be destroyed due to other causes such as some medications, automimmune disorders and disorders of the bone marrow. If no cause for the low white blood cell count can be determined, your physician may refer you to a hematologist. The hematologist will need to do further tests to determine the cause of the leucopenia. If you have a low white blood cell count, you should practice good handwashing and watch for signs of infection.
Polycythemia Vera
What Is Polycythemia Vera?
Polycythemia vera is a blood disorder in which the bone marrow makes too many red blood cells. Occasionally it also makes too many white blood cells and platelets. This interferes with the flow of blood and can lead to blood clots, heart attacks, and strokes.
What Causes Polycythemia Vera?
The exact cause is unknown but smoking, living at a high altitude and congenital heart conditions can contribute to the development of polycythemia vera.
What Are Symptoms Of Polycythemia?
Headache, weakness, sweating, itching after a warm bath, and dizziness are all symptoms.
How Is The Diagnosis Of Polycythemia Vera Made?
Diagnosis may be made from a combination of a physical exam, certain blood tests, and a bone marrow biopsy.
How Is Polycythemia Vera Treated?
There is no cure for polycythemia vera. The goal of treatment is to reduce the number of red blood cells, avoid complications, and control the symptoms. Treatment may include phlebotomy, which is removal of a unit of blood from the body, low dose aspirin to thin the blood, and chemotherapy to suppress the bone marrow. Therapeutic phlebotomy can be performed at ILCC Peoria, Bloomington and Galesburg offices.
What Is The Prognosis?
Polycythemia vera is a chronic disease. Most people with polycythemia vera live for many years with proper medical care. Polycythemia vera can lead to acute myelogenous leukemia in some cases.
Sickle Cell Anemia
Normal red blood cells are smooth and round. They move easily through blood vessels to carry oxygen to all parts of the body. In sickle cell anemia, the red blood cells become hard, sticky, and shaped like sickles or crescents. The cells tend to stick in the vessels and block blood flow. This can cause damage, pain, and anemia. Anemia is a shortage of red blood cells in your blood. In sickle cell anemia, the shortage occurs because cells do not last very long. Your body cannot make enough new cells to keep up.
Sickle cell anemia is a serious disease with no universal cure.
What Causes Sickle Cell Anemia?
People with sickle cell anemia inherit two genes, one from each parent that are variant (different from normal). The variant genes are called sickle cell genes. The variant genes tell the body to make variant hemoglobin that results in deformed red blood cells. Hemoglobin is the part of the red blood cell that carries the oxygen to all parts of the body.
What Are Signs And Symptoms Of Sickle Cell Anemia?
Signs and symptoms of sickle cell anemia can vary from person to person. Some people have mild symptoms, others more severe. The most common symptoms are fatigue, paleness, yellowing of the skin and eyes, shortness of breath. Pain can be acute and have a sudden onset, or be chronic in nature and last for months. The pain can be in organs or joints and is due to the blockage of blood flow and oxygen throughout the body. Other symptoms may include swelling of the hand and feet, eye problems, infections and fever, ulcers on the legs, stroke, and gallstones.
How Is Sickle Cell Anemia Diagnosed?
Sickle cell anemia is diagnosed by a simple blood test.
What Is The Treatment For Sickle Cell Anemia?
There is no cure for sickle cell anemia. The goal of treatment is to relieve pain, prevent infections, and control complications. Treatment includes medications to keep the blood counts normal, blood transfusions, antibiotics and other medications to treat complications.
Thrombotic Thrombocytopenic Purpura
What Is Thrombotic Thrombocytopenic Purpura (TTP)?
TTP is a rare blood condition characterized by the formation of small clots within the circulation. This results in the destruction of platelets and results in a low platelet count. Platelets are the blood cells that help to clot our blood when we are bleeding. Because the platelet count is low, these people are at risk for bleeding. Most patients also become anemic as a result of the TTP. Red blood cells are destroyed faster than the body can make new ones.
What Causes TTP?
Many times the cause of TTP is not known. Sometimes it is associated with drugs the person is taking, an infection, bone marrow transplant, or pregnancy.
What Are The Symptoms Of TTP?
Symptoms may be subtle and include fatigue, fever, headache, and diarrhea. As the condition progresses and clots form within blood vessels, platelets are consumed. Bruising and bleeding from the mouth or gums may occur. Clots that form can disrupt the circulation. Patients may have high blood pressure, headaches, confusion, difficulty speaking and numbness. If anemia develops, symptoms may include fatigue, shortness of breath and heart palpitations.
How Is The Diagnosis Of TTP Made?
Other diseases must first be excluded. Blood tests are commonly done.
How Is TTP Treated?
Plasma exchange is the most common treatment for TTP. Plasma exchange involves removal of the patient’s plasma and replacing it with donor plasma. This process removes the antibody in the patient’s blood that is causing the problems. Plasma exchange is repeated daily for several days.
Steroids, red blood cell and platelet transfusions, as well as folic acid may also be a part of the treatment. In some cases, removal of the spleen or chemotherapy is necessary to control the disease.
Can TTP Be Cured?
About 80% of patients will survive. The majority of patients will have only one episode of TTP; few will have relapses.
Thalassemia
Everything You Need to Know About Thalassemia
What is thalassemia?
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.
Each of these forms of thalassemia has different subtypes. The exact form you have will affect the severity of your symptoms and your outlook.
Symptoms of thalassemia
The symptoms of thalassemia can vary. Some of the most common ones include:
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
Causes of thalassemia
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic abnormality from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
Thalassemia is most commonTrusted Source in people from Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.
Different types of thalassemia
There are three main types of thalassemia (and four subtypes):
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Diagnosis thalassemia
If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped.
Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.
Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
Treatment options for thalassemia
The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some of the treatments include:
Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you need blood transfusions because people who receive them accumulate extra iron that the body can’t easily get rid of. Iron can build up in tissues, which can be potentially fatal.
If you’re receiving a blood transfusion, you may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
Thalassemia beta
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each parent, are inherited to make beta globin. This type of thalassemia comes in two serious subtypes: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Thalassemia major
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing.
The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:
This form of thalassemia is usually so severe that it requires regular blood transfusions.
Thalassemia intermedia
Thalassemia intermedia is a less severe form. It develops because of alterations in both beta globin genes. People with thalassemia intermedia don’t need blood transfusions.
Thalassemia alpha
Alpha thalassemia occurs when the body can’t make alpha globin. In order to make alpha globin, you need to have four genes, two from each parent.
This type of thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis.
Hemoglobin H
Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:
Hydrops fetalis
Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most babies with this condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin genes are altered or missing.
Thalassemia and anemia
Thalassemia can quickly lead to anemia. This condition is marked by a lack of oxygen being transported to tissues and organs. Since red blood cells are responsible for delivering oxygen, a reduced number of these cells means you don’t have enough oxygen in the body either.
Your anemia may be mild to severe. Symptoms of anemia include:
Anemia can also cause you to pass out. Severe cases can lead to widespread organ damage, which can be fatal.
Thalassemia and genetics
Thalassemia is genetic in nature. To develop full thalassemia, both of your parents must be carriers of the disease. As a result, you will have two mutated genes.
It’s also possible to become a carrier of thalassemia, where you only have one mutated gene and not two from both parents. Either one or both of your parents must have the condition or be a carrier of it. This means that you inherit one mutated gene from either one of your parents.
It’s important to get tested if one of your parents or a relative has some form of the disease.
Thalassemia minor
In alpha minor cases, two genes are missing. In beta minor, one gene is missing. People with thalassemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anemia. The condition is classified as either alpha or beta thalassemia minor.
Even if thalassemia minor doesn’t cause any noticeable symptoms, you can still be a carrier for the disease. This means that, if you have children, they could develop some form of the gene mutation.
Thalassemia in children
Of all the babies born with thalassemia each year, it’s estimated that 100,000 are bornTrusted Source with severe forms worldwide.
Children can start exhibiting symptoms of thalassemia during their first two years of life. Some of the most noticeable signs include:
It’s important to diagnose thalassemia quickly in children. If you or your child’s other parent are carriers, you should have testing done early.
When left untreated, this condition can lead to problems in the liver, heart, and spleen. Infections and heart failure are the most commonTrusted Source life-threatening complications of thalassemia in children.
Like adults, children with severe thalassemia need frequent blood transfusions to get rid of excess iron in the body.
Diet for thalassemia
A low-fat, plant-based diet is the best choice for most people, including those with thalassemia. However, you may need to limit iron-rich foods if you already have high iron levels in your blood. Fish and meats are rich in iron, so you may need to limit these in your diet.
You may also consider avoiding fortified cereals, breads, and juices. They contain high iron levels, too.
Thalassemia can cause folic acid (folate) deficiencies. Naturally found in foods such as dark leafy greens and legumes, this B vitamin is essential for warding off the effects of high iron levels and protecting red blood cells. If you’re not getting enough folic acid in your diet, your doctor may recommend a 1 mg supplement taken daily.
There’s no one diet that can cure thalassemia, but making sure you eat the right foods can help. Be sure to discuss any dietary changes with your doctor ahead of time.
Prognosis
Since thalassemia is a genetic disorder, there’s no way to prevent it. However, there are ways you can manage the disease to help prevent complications.
In addition to ongoing medical care, the CDC recommendsTrusted Source that all individuals with disorder protect themselves from infections by keeping up with the following vaccines:
In addition to a healthy diet, regular exercise can help manage your symptoms and lead to a more positive prognosis. Moderate-intensity workouts are usually recommended, since heavy exercise can make your symptoms worse.
Walking and bike riding are examples of moderate-intensity workouts. Swimming and yoga are other options, and they’re also good for your joints. The key is to find something you enjoy and keep moving.
Life expectancy
Thalassemia is a serious illness that can lead to life-threatening complications when left untreated or undertreated. While it’s difficult to pinpoint an exact life expectancy, the general rule is that the more severe the condition, the quicker thalassemia can become fatal.
According to some estimates, people with beta thalassemia — the most severe form — typically die by age 30. The shortened life span has to do with iron overload, which can eventually affect your organs.
Researchers are continuing to explore genetic testing as well as the possibility of gene therapy. The earlier thalassemia is detected, the sooner you can receive treatment. In the future, gene therapy could possibly reactivate hemoglobin and deactivate abnormal gene mutations in the body.
How does thalassemia affect pregnancy?
Thalassemia also brings up different concerns related to pregnancy. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties.
To ensure the health of both you and your baby, it’s important to plan ahead of time as much as possible. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible.
Your iron levels will need to be carefully monitored. Preexisting issues with major organs are also considered.
Prenatal testing for thalassemia may be done at 11 and 16 weeksTrusted Source. This is done by taking fluid samples from either the placenta or the fetus, respectively.
Pregnancy carries the following risk factors in women with thalassemia:
Outlook
If you have thalassemia, your outlook depends on the type of the disease. People who have mild or minor forms of thalassemia can typically lead normal lives.
In severe cases, heart failure is a possibility. Other complications include liver disease, abnormal skeletal growth, and endocrine issues.
Your doctor can give you more information about your outlook. They will also explain how your treatments can help improve your quality of life or increase your lifespan.