Dr. Suraj Chiraniya Hematologist & BMT Physician

ANAEMIA OF CHRONIC INFLAMMATION

What is anemia?

Anemia is the medical term for when a person has too few red blood cells. Red blood cells are the cells in your blood that carry oxygen. If you have too few red blood cells, your body might not get all the oxygen it needs.

Different things can cause anemia. The most common cause is not getting enough iron. Another kind of anemia can be caused by other health problems. This is called “anemia of inflammation” or “anemia of chronic disease.” Some people with this type of anemia also have low iron, but this is not always the case.

Anemia of inflammation can be caused by a long-term or “chronic” condition. Examples include diabetes, cancer, chronic infections, or other chronic problems. The condition causes the body to keep iron away from the red blood cells that are being made.

What are the symptoms of anemia of inflammation?

Many people with anemia of inflammation have no symptoms. They find out they have it after their doctor does blood tests for another reason.

People who do have symptoms might:

• Feel tired or weak, especially if they try to exercise
• Feel irritable
• Have headaches

These symptoms can also be related to the person’s health condition. They do not always mean the person has anemia.

Should I see a doctor or nurse?

Yes. If you have a long-term disease or condition and get the symptoms listed above, tell your doctor or nurse.

Is there a test for anemia of inflammation?

Usually not. A blood test can show if you have anemia. But there is not one specific test that can show if your type of anemia is anemia of inflammation. It is something your doctor might suspect when you have a chronic condition plus anemia.

If you have anemia and a health condition, and tests do not find another cause of your anemia, your doctor might decide that anemia of inflammation is the likely cause.

In the future, there might be a blood test that can show if a person’s anemia is due to anemia of inflammation.

How is anemia of inflammation treated?

The main treatment is to treat the chronic condition. For example, if you have diabetes, treatment to improve your blood sugar will also help with the anemia.

Sometimes other treatments are also given. For example:

• If your body is low in iron, which happens in some people with anemia of inflammation, your doctor will give you iron supplements. You can get extra iron in pills or through a thin tube that goes into a vein, called an “IV.”
• In some cases, your doctor might use a medicine that causes your body to make more red blood cells. These medicines are called erythropoietin or erythropoiesis-stimulating agents, or “ESAs.” But this is not common.

APLASTIC ANAEMIA

What is aplastic anemia?

Aplastic anemia is a condition that happens when a person has too few blood cells. There are 3 different types of blood cells:

• Red blood cells – These cells carry oxygen to your body.
• White blood cells – These cells fight infections.
• Platelets – Platelets help clots form so that you stop bleeding after you cut or are injured.

Blood cells are made in the center of your bones, in a part called the bone marrow. Aplastic anemia happens when your body stops making enough of all 3 types of cells at the same time.

What causes aplastic anemia?

Aplastic anemia is caused by damage to your bone marrow. Some people are born with damaged bone marrow. In older children or adults, many things can damage bone marrow, including:

• Certain medicines
• Certain chemicals
• Infections from certain viruses
• Problems with your body’s infection-fighting system (also called the “immune system”)

But for many people, doctors don’t know the cause of aplastic anemia.

What are the symptoms of aplastic anemia?

Some symptoms are the same as in other types of anemia. They include:

• Pale skin
• Feeling very tired
• A fast heartbeat
• Trouble breathing
• Headache and muscle pains

People with aplastic anemia might also:

• Get infections often
• Have more bruising or bleeding than normal

Is there a test for aplastic anemia?

Yes. Tests include:

• Blood tests, including a “complete blood count” (also called a “CBC”)
• Bone marrow biopsy – For this test, a doctor will take a very small sample of the bone marrow. Then another doctor will look at the cells under a microscope.

If your doctor thinks a genetic condition might be causing your aplastic anemia, he or she might do other tests, too.

How is aplastic anemia treated?

The treatment depends on the cause of your aplastic anemia. Treatment can include:

• Stopping medicines that caused the problem
• Staying away from toxic chemicals
• Medicines – These can include:
  • Antibiotics and antiviral medicines
  • Medicines that reduce the activity of your body’s infection-fighting system (called “immunosuppressive” medicines)
• Transfusion of red blood cells or platelets – During a transfusion, you will get blood that has been donated by someone else. The donated red blood cells or platelets go into your vein through a thin tube called an “IV.”

Doctors try to avoid giving one person a lot of transfusions. They also try not to give blood or platelets donated from family members who might donate bone marrow later. That’s because doing these things can make a bone marrow transplant work less well.

• Bone marrow transplant (also called a “stem cell transplant”) – This procedure replaces abnormal or missing cells in the bone marrow with healthy cells from a donor. These cells are given through an “IV.”

PERNICIOUS ANAEMIA

What is pernicious anemia?

Pernicious anemia is a condition that happens when a person cannot absorb vitamin B12 from food. Vitamin B12 is in foods that come from animals, including eggs, meat, poultry, and fish. Vegetarians and people who have had weight loss surgery need to take extra vitamin B12, but they do not have pernicious anemia.

In pernicious anemia, your stomach does not make an important protein that your body needs to absorb vitamin B12. The protein is called “intrinsic factor.” This happens when your infection-fighting system (immune system) attacks the intrinsic factor protein or the cells in the stomach that make it. As a result, even if you eat foods containing vitamin B12, your body does not absorb the vitamin.

Vitamin B12 is an important vitamin for making blood cells. People with pernicious anemia might have too few red blood cells (called “anemia”), too few white blood cells (which fight infection), or too few platelets (which help the blood to clot).

Vitamin B12 is also important for your brain and nerves. People with pernicious anemia can have depression, problems thinking, numbness and tingling in the hands and feet, trouble with balance, or weakness.

What are the symptoms of pernicious anemia?

People with mild pernicious anemia might not have any symptoms. But people can get symptoms if the vitamin B12 level is low enough.

Symptoms can be due to anemia, such as:

• Pale skin or a pale color in the tissue that lines the inside of the eyelids – You can see this tissue (called “conjunctiva”) by gently pulling down your lower eyelid. The tissue will appear pale instead of its normal, pinkish-red color.
• Feeling very tired
• A fast heartbeat
• Trouble breathing
• Headache and muscle pains

Symptoms related to a low white blood count might include getting infections more often than usual.

Symptoms related to a low platelet count might include bruising or bleeding.

People with pernicious anemia might also have changes in how their brain and nerves work. That’s because vitamin B12 is important in helping the brain and nerves work normally. These changes might include:

• Problems with memory and confusion, which can become severe
• Mood problems, such as being cranky or grouchy
• Tingling or burning feelings on the skin
• Numbness
• Weakness in the arms or legs
• Trouble with balance

Is there a test for pernicious anemia?

Yes. Doctors use different blood tests to check for vitamin B12 levels and the immune problem that causes pernicious anemia.

How is pernicious anemia treated?

Pernicious anemia is treated with vitamin B12 supplements. These can be given as an injection (shot) of vitamin B12 every day for 1 week. After that, a typical way to get the shot is once per week for 4 weeks, followed by monthly shots of vitamin B12 for the rest of your life. They can also be given as a pill that contains a high dose of vitamin B12.

These treatments must also be taken for life.

No matter what form of treatment you use, it is very important to keep taking vitamin B12. If you stop, your vitamin B12 level can become low again, and you can develop serious symptoms

Neutropenia

What is neutropenia?

Neutropenia is condition that happens when your blood does not have enough of the cells called “neutrophils.” Neutrophils are a type of white blood cell. They help your body fight infections.

Blood is made up of different types of cells. These cells are made in the center of your bones, in a part called the bone marrow. Neutropenia can happen if:

• Your bone marrow doesn’t make enough neutrophils.
• Something in your body (such a medicine you took, or your own immune system) destroys some of your neutrophils.

Some people with neutropenia have no symptoms. But people with severe neutropenia can get fevers and frequent infections.

What causes neutropenia?

Many different things can cause neutropenia, including:

• Infections – Many different infections can cause neutropenia, including:
• Typhoid fever
• Tuberculosis
• Hepatitis B
• HIV, the virus that causes AIDS
• Medicines – Many medicines can cause neutropenia. Some examples include:
• Medicines used to treat cancer, such as cyclophosphamide (brand name: Cytoxan) and doxorubicin (brand name: Adriamycin)
• Clozapine (sample brand names: Clozaril, FazaClo)
• Sulfasalazine (brand name: Azulfidine)
• Vitamin deficiencies – Some vitamins help the body make neutrophils. Folic acid, vitamin B12, and copper are examples. You could have low levels of these vitamins if you are a strict vegetarian or have weight reduction surgery and do not take supplements.
• Immune system problems – The immune system is the body’s infection-fighting system. Normally, the immune system kills germs. But sometimes, it attacks healthy cells, including white blood cells. This condition is known as “autoimmune neutropenia.” It can happen with certain diseases like lupus or rheumatoid arthritis.
• People from certain ethnic groups can have a slightly low neutrophil count, but they have no health problems from this condition. This is called “benign ethnic neutropenia.”
• Problems related to the bone marrow – Some conditions that involve the blood cells made in the bone marrow can cause neutropenia. Examples include certain inherited conditions, myelodysplastic syndrome (MDS), and certain types of leukemia or anemia.

Is there a test for neutropenia?

Yes. A blood test called a “complete blood count with white blood cell differential” looks at all the different types of white blood cells in your blood. It can show if you have neutropenia. Doctors also call this test a “CBC with diff.” The important number is the number of neutrophils, or “neutrophil count,” not the percentage.

Your doctor or nurse will decide if you need other tests based on your age, other symptoms, and individual situation. Here are some of the things doctors use to find the cause of neutropenia:

• CBC results – Sometimes there are other clues from the CBC, such as the sizes or numbers of other blood cells.
• Other lab tests – Sometimes other lab tests may be helpful, such as the level of vitamin B12 or tests for lupus.
• Bone marrow biopsy – For this, a doctor will take a very small sample of the bone marrow from your hip bone. Then another doctor will look at the cells under a microscope. Only some people need this test. Your doctor is most likely to do this test if you have a very low neutrophil count or other abnormal blood cells.

How is neutropenia treated?

The treatment depends on what caused you to get neutropenia.

If your neutropenia was caused by a medicine you took, your doctor might have you stop taking the medicine. He or she might be able to switch you to a different medicine that is less likely to cause the problem.

Your doctor might also prescribe drugs that help your bone marrow make white blood cells. These drugs are given in a shot and include:

• Filgrastim (brand name: Neupogen)
• Sargramostim (brand name: Leukine)

Your doctor will tell you how concerned you need to be about serious infections. If you are at risk for serious infections, you’ll need to get to a doctor or hospital right away if you have a fever or other symptoms of infection. For people who have neutropenia from chemotherapy and get a fever, it is very important to get to the hospital right away to be treated for infection.

Am I at increased risk for blood cancer?

Despite some information that is out there, the answer for most people is no. Rarely, people who were born with some forms of severe neutropenia have a very slightly increased risk of a type of blood cancer called “acute myeloid leukemia.” But this risk is small and applies only to a small group of people who are born with neutropenia, not people who get it later in life.

Immune thrombocytopenia

What is immune thrombocytopenia?

Immune thrombocytopenia (ITP) is a bleeding disorder. People with ITP can bruise or bleed much more easily than normal.

ITP causes low platelets. Platelets are cells that are normally found in the blood that help blood to clot. People with ITP have fewer platelets than normal. That’s because their immune system destroys their platelets. The immune system is the body’s infection-fighting system.

Both adults and children can get ITP, but ITP is more common in children. Children who get ITP usually get it after they have an infection.

What are the symptoms of ITP?

Some people with ITP have no symptoms. When people do have symptoms, they can:

• Bleed easily – This can include nosebleeds or blood-filled blisters inside the mouth. Women with ITP can bleed more than usual during their monthly periods.
• Bruise easily – This could look like large bruises or tiny bruise-like dots on the feet and ankles.

Sometimes, there can be more serious bleeding, like bleeding in the brain or inside the body.

Is there a test for ITP?

Yes and no. There is a test for the number of platelets in the blood, called the “platelet count.” This is often done as part of a “complete blood count” (or “CBC”). If your platelet count is low, ITP might be the cause. But there is no test that can tell for sure if the low platelet count is because of ITP or something else.

If a blood test shows that a person has a low platelet count, the doctor will ask about symptoms, do an exam, and do some blood tests. This is to help figure out if another condition is causing the low platelet count. The main test is called the “complete blood count.” It tells if other blood cell counts are also low, or only the platelet count.

In children, ITP is the most common cause of a low platelet count. In adults, there are other possible causes, and sometimes other tests are needed. For example, doctors sometimes do a test called a bone marrow biopsy. The bone marrow is the cells inside your bones. It makes all of the blood cells and platelets. A bone marrow biopsy is a procedure that involves using a needle to take a tiny sample of bone marrow from one of the hip bones. Then the sample is examined under a microscope.

If another cause for a low platelet count can’t be found, the person is usually said to have ITP.

How is ITP treated?

Treatment for ITP depends on the person’s age, symptoms, and how low the platelet count is.

Children with ITP do not need treatment unless they have a lot of bleeding or have a very low platelet count. For most children, ITP goes away on its own within 6 months. But doctors follow children with ITP closely to make sure the ITP does not get worse or end up needing treatment.

Adults with a very low platelet count or bleeding will most likely need treatment. But if the ITP is mild, treatment is usually not needed.

Adults who need treatment are first treated with medicines called steroids. (These are not the same as the steroids some athletes take illegally.) Steroids stop the body’s immune system from destroying platelets. Even though steroids can help treat ITP, they can also cause problems of their own. The doctor will talk to you about the possible side effects of steroids. For people who need a very fast increase in platelet count, a medicine called intravenous immune globulin (or “IVIG”) can be used. This medicine stops the body from destroying platelets.

If the ITP doesn’t get better, doctors can use other treatments. These include:

• Surgery to remove the spleen – The spleen is an organ in the body’s immune system that helps protect the body from infections. Removing the spleen stops the body from destroying platelets.
• Other medicines that stop the body from destroying platelets, such as rituximab. This is given through a thin tube that goes into a vein, called an “IV.”
• Medicines that can help the body make more platelets.

If these treatments don’t work, other treatments are available.

What else might people with ITP need to do?

Depending on their platelet count and symptoms, people with ITP might need to:

• Avoid certain sports or activities – It’s very important for children to limit their physical activity and not play certain sports, especially contact sports. That’s because children can get hurt by accident. If a person with a very low platelet count gets hurt, they can have serious bleeding. The doctor will tell you which activities and sports your child should avoid. Adults might also need to limit their activities and sports. People can do their usual sports and activities again when their ITP gets better.
• Avoid taking certain medicines – Some medicines, such as aspirin and drugs called non-steroidal anti-inflammatory drugs (or “NSAIDs”), affect platelets. Your doctor will let you know which prescription and over-the-counter medicines to avoid.

What if I have ITP and want to get pregnant?

If you have ITP and want to get pregnant, talk with your doctor or nurse. Most women with ITP have a normal pregnancy and delivery.

There is a very small chance that your baby will have a low platelet count after he or she is born. A doctor will decide if the baby’s blood needs to be tested. Babies born with low platelet counts will get better in a few days. But the platelet count can go lower before it improves, so it is important to check the baby.

Myelodysplastic syndromes

What are Myelodysplastic syndromes?

Myelodysplastic syndromes (MDS) are a group of conditions that involve the blood. Blood is made up of different types of cells. These cells are made in the center of bones, in a part called the bone marrow.

When people have MDS, their bone marrow does not work normally. It makes abnormal blood cells and does not make enough normal blood cells. This can cause symptoms.

What are the symptoms of MDS?

Some people with MDS have no symptoms. They might find out that they have MDS after they have blood tests for another reason.

Other people do have symptoms. They might:

• Feel weak, tired, or dizzy
• Have trouble thinking clearly
• Have trouble breathing
• Bruise or bleed more easily than usual
• Get infections more easily or more often than usual

Is there a test for MDS?

Yes. To test for MDS, your doctor or nurse can do:

• Blood tests
• Bone marrow biopsy – During this procedure, a small sample of the bone marrow is removed with a needle. Then a doctor looks at the cells under a microscope to see if abnormal cells are present.

There are different types of MDS. Your doctor will use your test results to figure out which type you have.

How is MDS treated?

The right treatment for you will depend, for the most part, on the type of MDS you have, your symptoms, and your overall health. Most treatments do not cure MDS. But treatments can improve symptoms and help people feel better.

Doctors usually treat MDS with one or more of the following:

• Blood transfusions – A blood transfusion is when a person gets blood that was given (donated) by another person.
• Medicines – Doctors can use different types of medicines to treat MDS. These medicines work in different ways. Some medicines help the bone marrow make more blood cells. Other medicines affect the body’s infection-fighting system.
• Chemotherapy – Chemotherapy is the medical term for medicines that kill cancer cells or stop them from growing. It can be used to target the abnormal cells found in MDS.
• Bone marrow transplant (also called “stem cell transplant”) – This treatment uses chemotherapy to kill the abnormal cells in the bone marrow. These dead cells are then replaced with “donor” cells. The “donor” cells can come from different places. They usually come from people whose blood matches yours. Bone marrow transplant is the only treatment that can cure MDS.

Your doctor or nurse might also talk with you about being in a clinical trial. A clinical trial is a research study that uses volunteers to test new treatments or new combinations of current treatments.

Polycythemia vera

What is polycythemia vera (PV)?

Polycythemia vera (also called “PV”) is a condition that affects bone marrow. Bone marrow is the tissue in the center of your bones that makes blood cells.

People with PV make too many red blood cells (the cells that carry oxygen to your body). They might also have higher-than-normal levels of:

• White blood cells – These cells fight infections.
• Platelets – Platelets help clots form so that you stop bleeding after you are cut or injured.

What are the symptoms of PV?

People with PV might:

• Have headaches
• Feel weak or dizzy
• Sweat a lot
• Feel very itchy, especially when rubbing their skin after a warm bath or shower
• Have painful, swollen joints, especially in the big toe, ankle, or knee (called “gout”)
• Have burning pain in the hands and feet, which can also turn red, white, or blue
• Have dangerous blood clots
• Have vision problems, such as seeing dark spots, sparks, or flashes
• Have stomach problems, such as pain in the upper belly

Are there tests for PV?

Yes. Your doctor or nurse will do an exam and order different blood tests. You might also need a bone marrow biopsy. For this test, a doctor takes a very small sample of your bone marrow. Then another doctor looks at the cells under a microscope.

How is PV treated?

Treatments include:

• Removing blood from your body (called “phlebotomy”) – This is similar to what happens if you give blood.
• Low-dose aspirin – This helps prevent blood clots.
• Medicines to keep your bone marrow from making too many red blood cells – These include hydroxyurea (brand names: Droxia, Hydrea), interferon alfa (brand name: Intron A), and busulfan (brand name: Myleran, Busulfex).

Your doctor might also prescribe medicines or other treatments to ease itching.

What else should I do?

It’s important to follow all of your doctor’s instructions about visits and tests. It’s also important to talk to your doctor about any side effects or problems you have during treatment.

Getting treated for PV involves making many choices, such as what treatment to have and when.

Always let your doctors and nurses know how you feel about a treatment. Any time you are offered a treatment, ask:

• What are the benefits of this treatment? Is it likely to help me live longer? Will it reduce or prevent symptoms?
• What are the downsides to this treatment?
• Are there other options besides this treatment?
• What happens if I do not have this treatment?

Beta thalassemia

What is thalassemia?

Thalassemia is a condition that affects the red blood cells. Red blood cells are made inside your bones, in a part called the bone marrow. Red blood cells carry oxygen to all of the organs in the body using a protein called “hemoglobin.”

In thalassemia, the body does not make enough healthy hemoglobin. When a person’s hemoglobin is too low, it is called “anemia.”

Thalassemia is a life-long condition that people are born with. It is caused by an abnormal hemoglobin gene. There are many different types of thalassemia, depending on which hemoglobin gene is affected and how severe the anemia is. Beta thalassemia is 1 form. It includes:

• Transfusion-dependent beta thalassemia – This is when anemia is severe enough to require blood transfusions beginning in childhood.
• Non-transfusion-dependent beta thalassemia – This is a less severe form of the condition. People with this type have anemia but do not need blood transfusions as regularly.
• Beta thalassemia trait – This is when a person gets an abnormal gene from 1 parent, but not the other. People with this trait are called “carriers.” This is because they could pass the abnormal gene on to their children, too. Carriers often have no symptoms of the disorder, or only mild symptoms.

This article is mostly about transfusion-dependent beta thalassemia.

What are the symptoms of transfusion-dependent beta thalassemia?

In transfusion-dependent beta thalassemia, symptoms usually start after a baby is a few months old. Symptoms can include:

• Pale skin
• Acting cranky or upset
• Not growing as much as expected
• Swelling of the belly
• The skin or white part of the eyes turning yellow
• The bones of the face or skull being wider than normal

Some of the symptoms happen because parts of the body that don’t normally make red blood cells start trying to make them. This is why some people notice swelling or abnormal growth of certain organs or bones.

Is there a test for thalassemia?

Yes. A blood test can show if someone has thalassemia, and what type they have. Some people also get a test to check their genes.

How is transfusion-dependent beta thalassemia treated?

People with transfusion-dependent beta thalassemia can be treated with:

• Blood transfusions – A blood transfusion is when a person gets blood that was given (donated) by another person.

Although blood transfusions help treat thalassemia, they can also cause problems. That’s because blood has iron in it. When people get a lot of blood transfusions, their body gets too much iron. Too much iron can damage the heart, liver, and other organs. Transfusion-dependent beta thalassemia also causes the body to absorb extra iron from food. Because of this, it’s possible to have too much iron even if you do not get transfusions or only get transfusions once in a while.

• Medicine – A medicine called luspatercept (brand name: Reblozyl) can help some people need fewer blood transfusions. This medicine is given as a shot under the skin every 3 weeks. It is only used in older teens or adults. Your doctor can talk to you about whether it might help you. Doctors are also trying to find other treatments.

You might need other treatments, too. For example:

• People who have too much iron in their body need to get rid of the extra iron so it does not damage their organs. Treatment to get rid of this extra iron is called “iron chelation.” Doctors can use different medicines for iron chelation.
• Some people with beta thalassemia will need surgery to remove their spleen .

The only  cure for thalassemia is a treatment called a “bone marrow transplant.” This is also called a “stem cell transplant.” This involves getting bone marrow cells from another person. Usually the other person, or “donor,” is a sibling who has similar genes but does not have transfusion-dependent thalassemia. (If they have a milder form of thalassemia, they can still be a donor.) Bone marrow transplant is only done for people who have a severe form of thalassemia, since it can cause many side effects, including death.

Doctors are also trying to find other treatments that can cure thalassemia. A type of bone marrow transplant that uses your own bone marrow cells is used in Europe. The cells are treated in a lab so they have a normal gene instead of the abnormal hemoglobin gene. This is called “gene therapy.” Very few people have had this treatment because it is still being tested. But it might become more common in the future.

What can people with thalassemia do to stay healthy?

People with all types of thalassemia should:

• See their doctor for regular follow-ups, and follow all instructions about tests and treatment.
• Avoid taking vitamins or supplements with iron in them.
• Take a vitamin called folic acid (folate), if the doctor or nurse recommends it.

What if I want to get pregnant?

If you have thalassemia, it’s possible that your children will have it, too. Your doctor can talk to you about the chances of this happening. If your partner also has thalassemia or another blood disorder like sickle cell disease, you might have options like in vitro fertilization (“IVF”) using an egg or sperm from another person.

Your doctor might also suggest other changes in your medical care before or during pregnancy. If you do get pregnant, you can choose to test your unborn baby for thalassemia.

Sickle cell disease

What is sickle cell disease?

Sickle cell disease is a condition that affects cells in the blood called red blood cells. The red blood cells carry oxygen to organs in the body.

There are a few different types of sickle cell disease. A common type is called “sickle cell anemia.”

Normal red blood cells are disc-shaped, sort of like a half-filled water balloon. They are flexible enough to fit through small blood vessels. In people with sickle cell disease, some of the red blood cells have an abnormal shape. Under a microscope, they look similar to an old-time farming tool called a “sickle.” This is how the disease gets its name.

The “sickle cells” are stickier and less flexible than normal red blood cells. Because of this, they can get stuck in the blood vessels easily. When this happens, they don’t bring enough oxygen to the body’s organs. This can cause pain or organ damage.

Sickle cell disease is a life-long condition that people are born with. It is caused by an abnormal gene:

• If a person gets the sickle cell gene from both their mother and father, they will have a form of sickle cell disease called “sickle cell anemia.”
• If a person gets the sickle cell gene from 1 parent, and a different abnormal gene from the other parent, they will have one of the other forms of sickle cell disease. Examples of these different abnormal genes include “hemoglobin C” and “beta thalassemia.”
• If a person gets the abnormal gene from only 1 parent and a normal gene from the other parent, they will have “sickle cell trait.” People with sickle cell trait generally do not have any of the symptoms of sickle cell disease. But they can pass the gene along to their children.

What are the symptoms of sickle cell disease?

Symptoms usually start after a baby is a few months old. Most commonly, people with sickle cell disease have episodes of pain. Some doctors use the term “sickle cell pain episode” or “sickle cell crisis.” But you should not wait for pain to become a crisis before you get help.

Sickle cell pain can be in the bones, chest, or other parts of the body. It can be mild or severe, and last hours to days. People can have other symptoms with their pain, too. The symptoms depend on how old they are:

• Babies can have pain in the hands and feet with swelling and redness.
• Older children and adults can have pain in the chest with trouble breathing, fever, or coughing.
• Older children and adults can have pain in the bones.

Most episodes of pain just happen because of the abnormal red blood cells, and can’t be predicted. But sometimes, the pain can be related to other things, such as:

• Infection – People with sickle cell disease are more likely than others to get certain infections.
• Dehydration – Dehydration is when the body loses too much water.
• Weather or air conditions
• Travel to high-altitude places – These are places where there is less oxygen in the air, such as mountains. Flying in an airplane might also cause symptoms for people with sickle cell disease. Talk to your doctor about what you can do to prevent problems.

Sickle cell disease can also cause other symptoms and problems, including:

• Severe anemia – Anemia is the medical term for having too few red blood cells. It makes people tired or weak. Most people with sickle cell disease have anemia. But in some cases, it can be severe and need treatment.
• Very severe infections, which can be life threatening.
• Lung problems – Symptoms can include trouble breathing, chest pain, asthma, or sleep apnea (when a person stops breathing for short periods during sleep).
• Strokes – A stroke is when a part of the brain is damaged because of a problem with blood flow. This can happen when a blood vessel gets blocked or bleeds.
• Open sores on the skin (usually on the legs)
• A problem with the bone in the shoulder or hip – This happens when the bone doesn’t get enough blood, leading to pain in the bone or joint. In some cases this can cause permanent damage. Doctors call this problem “osteonecrosis” or “avascular necrosis.”
• In men, an erection that lasts too long and is very painful

Is there a test for sickle cell disease?

Yes. A blood test can show if someone has sickle cell disease. All newborn babies in the United States are tested for sickle cell disease before they leave the hospital.

Some parents are tested for the sickle cell gene before getting pregnant. This is to find out their risk of having a baby with sickle cell disease. Talk to your doctor about whether you should be tested.

How is sickle cell disease treated?

Sickle cell disease involves life-long treatment. Some treatments help prevent the different problems sickle cell disease can cause. Others are aimed at relieving pain or treating other problems, like infection.

Medicines for infections include:

• Antibiotics – Daily antibiotics like penicillin can help prevent infections in young children. Other antibiotics are also used to treat infections.

It is important for people with sickle cell disease to be treated for infections right away. Call your doctor as soon as possible if you get a fever or think you might have an infection.

• Vaccines – Getting all vaccines helps prevent infections. This is especially important in children, but is also true for adults.

Other treatments for sickle cell disease include:

• Hydroxyurea (sample brand names: Droxia, Hydrea) – This medicine helps the body make more normal red blood cells.
• Other medicines that help the red blood cells keep their normal shape – These medicines help the cells deliver oxygen better. One example is L-glutamine (brand name: Endari). This medicine can help decrease pain episodes. Doctors might suggest it if hydroxyurea is not helping enough with pain or if you cannot take hydroxyurea. It is a powder that is sprinkled on food or in a drink twice a day. It can be used in people over 5 years old.
• Blood transfusions – A blood transfusion is when a person gets blood that was given by another person. People who have a high chance of having a stroke might get blood transfusions to help prevent strokes. People might also get blood transfusions to treat anemia.
• Folic acid – A vitamin called folic acid (also called folate) helps people with sickle cell disease to make red blood cells.
• Pain medicines – Doctors can use different medicines to treat pain. Your doctor can help you make a plan for treating pain at home. If the pain is severe, people might need treatment in the hospital or regular pain medicines every day.

A procedure called a “bone marrow transplant” or “stem cell transplant” can cure sickle cell disease. This procedure replaces the “stem cells” that make your blood with healthy cells. But this treatment is not done very often for sickle cell disease. That’s because it has many side effects and can be done only if people meet certain conditions.

Gene therapy is also being studied as a way to cure sickle cell disease. It involves using the person’s own stem cells for a bone marrow transplant. The cells are treated in a lab so they have a normal gene instead of the sickle cell gene.

When should I call the doctor or nurse?

Your doctor or nurse will tell you what to look for and when to call for help. In general, you should call right away if the person with sickle cell disease has any of the following problems. Do not wait to call, even if it’s the middle of the night, because it’s important to get treatment right away. Call for help if the person:

• Gets a fever or has other signs of infection (for example, feeling very tired, loss of appetite, stiff neck, headache, trouble breathing, or cough).
• Has pain that doesn’t get better after it is treated at home
• Has an erection that lasts longer than 2 to 4 hours
• Has trouble breathing
• Has symptoms of a stroke. Symptoms might include:
  • Severe headache
  • Seizure
  • Not being able to wake up
  • Trouble speaking
  • Drooping of the face on one side
  • Weakness in an arm or leg

Some of these stroke symptoms are shown in the picture .

What else can people with sickle cell disease do to stay healthy?

People with sickle cell disease should:

• See their doctor for regular check-ups, treatments, and tests.
• Get the vaccines that the doctor or nurse recommends. Vaccines can prevent certain serious or deadly infections.
• Take good care of themselves, including staying well hydrated, exercising, eating a healthy diet, avoiding smoking and air pollution, and getting enough sleep.

What if I have sickle cell disease and want to get pregnant?

If you have sickle cell disease and want to get pregnant, talk with your doctor or nurse. A sickle cell specialist or a genetic counselor can do a blood test on your partner and tell you your baby’s chance of having sickle cell disease.

If you have sickle cell disease and are pregnant, your doctor will follow you and your baby closely throughout your pregnancy. That’s because sickle cell disease can cause problems for both you and your baby.

HEMOCHROMATOSIS

What is hemochromatosis?

Hemochromatosis is a condition that can cause too much iron to build up in the body. This can lead to problems such as liver damage, heart damage, joint pain, and weakness.

Hemochromatosis can be caused by abnormal genes and can run in families. This type of hemochromatosis is called “hereditary hemochromatosis.” If your parent, brother, sister, or child has hemochromatosis, ask your doctor or nurse about getting tested for it.

In other cases, hemochromatosis can be caused by other things, for example, getting a lot of blood transfusions (more than 10 or 20). Or it can be related to other blood diseases.

Most people find out they have hemochromatosis from a blood test. Anyone who has a family member with the condition should get tested. People with symptoms of too much iron, or an abnormal blood test showing high iron levels, should also be tested.

What are the symptoms of hemochromatosis?

Many people find out they have hemochromatosis before they have any symptoms.

If a person does have symptoms before they are diagnosed, the symptoms can include:

• Feeling weak or tired
• Changes in the color of the skin that make it look darker
• Joint pains, especially in the hands
• An increase in the size of the liver.
• Signs of a heart problem, like trouble breathing
• Diabetes or other hormone problems

Sometimes there are no symptoms, but routine lab tests (that are done for other reasons) show problems that could be a sign of hemochromatosis. These might include:

• Abnormal blood tests of the liver
• Abnormal blood sugar
• Abnormal thyroid tests
• High levels of iron in the blood

If hemochromatosis is not treated, it can lead to long-term problems that include:

• Liver damage
• Heart damage
• Thyroid problems
• High sugar levels in the blood (diabetes mellitus)
• Trouble getting or keeping an erection (in men)

Is there a test for hemochromatosis?

Yes. Your doctor or nurse can do different blood tests to check the iron level in your blood. If the iron level is high, they can test for the hemochromatosis gene.

How is hemochromatosis treated?

If you have the gene but your iron level is normal, you might not need treatment. Your doctor can do regular blood tests to check your iron level. If your iron level gets too high, then you need treatment.

When treatment is needed, most people are treated by having some of their blood removed on a regular basis, similar to donating blood. This treatment works because taking blood from a person’s body removes iron.

If you are being treated for hemochromatosis, you will probably have blood taken once a week until enough iron has been removed. This usually takes about a year, but it depends on how much extra iron you have. To track how well the treatment is working, your doctor or nurse will probably do regular blood tests. This is to check for anemia and see how well the iron removal is going.

Once your iron level is normal, you will have some treatment to keep your iron level from getting too high again. This involves having blood taken less often (a few times a year). Most people need this treatment for the rest of their life.

What other treatments might I need?

You might need other treatments if your hemochromatosis leads to long-term problems. For example, if you get diabetes, you might need to take diabetes medicines.

If you have certain liver problems, you will need follow-up tests to check your liver for the rest of your life. That’s because people with certain liver problems caused by hemochromatosis have a higher chance of getting liver cancer.

Is there anything I can do on my own to help keep my iron levels low?

Yes. You should avoid iron supplements and vitamins with extra iron. It is fine to take a regular vitamin without extra iron, and it is fine to eat a regular diet including meat.

Can I drink alcohol?

It depends. Ask your doctor or nurse if it is OK for you to drink alcohol. People who have hemochromatosis and certain liver problems should not drink alcohol. Also, some people can reduce their alcohol use to lower the chance of developing liver problems.

What if I want to get pregnant?

If you have hemochromatosis and want to get pregnant, talk with your doctor or nurse. They can help you understand the chances that your baby will get the abnormal gene. Even if your baby does get hemochromatosis, he or she will not have any symptoms or need treatment until adulthood.