Transfusion Medicine

What is Aplastic anemia? Is it life threatening? Are there any cases of death recorded till date? Yes! Aplastic anemia can be moderate, as well as severe and life threatening at times. Marie Curie, a famous pioneer in the field of radioactivity, was a victim of Aplastic anemia. She died of aplastic anemia after working with unprotected radioactive materials for over a prolonged period.

About Aplastic anemia

Your bone marrow is responsible for manufacturing enough blood cells to replenish the older blood cells. In aplastic anemia, your body’s bone marrow becomes incapable of producing enough blood cells. So, there will be lower counts of all the three blood cells–red blood cells, white blood cells and blood platelets.

Symptoms

The common symptoms that are associated with Aplastic anemia include:

• Tiredness
• Bleeding in gums
• Severe headache
• Rashes on the skin
• Shortness of breath
• Frequent infections
• Dizziness or vertigo
• Bleeding from nose
• Rapid or slow pulse rate

Aplastic anemia may attack you suddenly or may progress slowly taking weeks or months. It can be acute or chronic. However, it can be life-threatening at times.

Risk factors

The common risk factors for Aplastic anemia include:

• Exposure to heavy ionizing radiations
• Exposure to toxic chemical substances
• Due to any autoimmune disorders or a viral infection
• Usage of drugs such as antibiotics, or anti-rheumatoid
• Pregnancy, your immune system would attack your immune system when you are pregnant, this can be referred as an autoimmune cause

Causes

The major cause for Aplastic anemia is unknown. But it can be caused due to any underlying autoimmune disorder in which the white blood cells are affected.

Diagnosis

To count the types of blood cell (red blood cells, white blood cells, platelets, and reticulocyte) circulating in the blood, your doctor would order for blood tests. Two or three of the cell counts is a strong evidence of aplastic anemia.

To confirm the diagnosis, your doctor would order for more specific tests such as bone marrow biopsy. For this procedure, your doctor removes a sample of bone marrow from the large bone. The sample collected is then examined to rule out any other underlying causes. In the case of aplastic anemia, your bone marrow biopsy shows a fewer to normal blood cells and an increased amount of fat.

Treatment

If aplastic anemia is mild without any bothersome symptoms, you may not require treatment.

But in the case of severe loss of blood cells, your symptoms would be prominent. At this instance, your doctor would order for blood and platelets transfusions. There may also be a situation where in spite of blood transfusions, you may still have very low blood cell count. This is considered to be a life-threatening condition.

Stem cell transplantation or bone marrow transplantation is recommended for the people under the age of 40 years. It works well when the donor has exactly matched brother or sister. This is called a matched sibling donor.

Immune suppressors are used to lowering your body’s immune mechanisms. This prevents your immune system from attacking your bone marrow, making bone marrow stem cells to grow, which is helpful in raising the blood counts.

Iron chelation, is a beneficial treatment if you have iron overload. Too much of iron in your body may affect red blood transfusion. So, iron chelation would be appropriate.

Life style modifications

• You must take sufficient amount of rest, because anemia may cause fatigue and shortness of breath. So take rest whenever you need.
• You must try to avoid contact sports because of risk of bleeding associated with low platelet count.
• You must keep yourself away from infected people and maintain hygienic conditions to prevent the risk of infection.

You have been told you have inherited an abnormal oxygen carrying red cells. You feel helpless as you cannot do anything about your genes now. But you can promise yourself a normal life, if you follow some precautions.

Symptoms

TSickle cell anemia symptoms may be caused depending upon which part of the body gets lesser blood supply. This can lead to pain in the affected part.

• Blood vessels can be blocked in the arms, legs, chest, or abdomen.
• You may develop painful swelling of hands and feet.
• When blood supply to the spleen, an organ in the abdomen that protects against infections, is damaged, there may be abdominal pain and also infections.
• Blocked vessels in the brain can cause paralysis of the part controlled by the affected segment of the brain or blackouts, dizziness and fainting episodes.
• There may be slurring of speech.
• Children may show an unusual behavior and delay of developmental milestones.

Complications

Sickle cell disease can cause several complications like bone or joint damage, eye damage, painful persistent erections in males called priapism, and damage to internal organs like lung, kidney, liver, and spleen. It delays growth in children. The most feared complication is sickle cell crisis characterized by sudden severe pain.

Preventing sickle cell disease

Sickle cell disease is inherited, so you need to consult a genetic counselor if you are planning a family. You may undergo in vitro fertilization where the eggs and sperms obtained from the affected parents are made to fertilize under laboratory conditions and checked for genetic structure. If normal, the fertilized egg is then implanted in the womb of the mother. Sickle cell disease is a challenge for a lifetime. Prevent it from crippling your life.

Understanding sickle cell disease

Sickle cell disease or sickle cell anemia is a genetic disorder of hemoglobin, a protein in red cells that binds oxygen and enables it to be transported to all tissues in our body. Normally, the red cells are disc shaped and very flexible. They can mould the shape to pass through very narrow blood vessels. In sickle cell anemia, the red cells become crescent shaped or sickle shaped and rigid, hence the name, sickle cell. They do not pass through small vessels hence causing a compromised flow to some tissues. These C shaped cells live shorter than the normal cells.

The cause is genetic. As we inherit the color of our eyes, skin and hair from our parents, we also inherit the sickle cells gene that determines the type of hemoglobin we will have.

To be able to get sickle cell disease, a child should inherit a sickle cell gene from both parents. If a child gets one normal and one defective gene, then the child becomes a carrier. If both the parents are carriers of the disease, then the child has 25% chance of getting the disease. If one parent is a carrier and another has sickle cell disease, then the child has 50% chance of getting sickle cell anemia.

Treatment

Sickle cell disease treatment is aimed at relieving pain and preventing infections. You may need antibiotics to fight infections. Folic acid and vitamin supplements can help to replace the damaged red cells in the blood. When internal organs are affected, you will need to be hospitalized and depending upon severity of the condition, you may need to be infused fluids, given pain control drugs, blood transfusions, and even undergo intensive care.

An anti-tumor drug called hydroxyurea may be used to stimulate the formation of fetal hemoglobin, a type of hemoglobin that is present in babies developing in the mother’s womb. The fetal hemoglobin prevents sickling of cells. This reduces the frequency of painful episodes and the need for blood transfusions.

Sickle cell disease cannot be cured. Bone marrow transplant has been successful in some cases.

Gene therapy may be used wherein the defective gene is corrected by complex cellular techniques.

Pain relief

Pain relief is an important part of sickle cell treatment. You can use of the over-the-counter pain killers to relieve the pain. Some of these are aspirin, acetaminophen, ibuprofen, and naproxen.

• You should adopt some lifestyle remedies to combat pain.
• Eat a balanced diet and take folic acid and vitamin supplements.
• Drink plenty of water to avoid dehydration.
• Reduce stress, take rest and avoid extreme temperatures.
• Avoid high latitude areas and fly in aircrafts with pressurized cabins.
• Exercise regularly but avoid excess of it.
• Some medicines like pseudoephedrine available over counters in cold remedies can constrict blood vessels and precipitate an attack. You will need to be cautious of self medication.
• Protect yourself from infections.
• Make sure you have had all your vaccinations.
• Some alternate techniques like hot baths, massages, physical therapy, psychological therapy, and meditation are also helpful.
• Seek support of family, friends, and support groups.

Sickle cell crisis

Sickle cell crisis is a condition in which the rigid crescent shaped red cells block the vessels of the bones, joints, lungs or abdomen. This can cause pain in arms, legs, chest, back, knees, etc. that may last few hours to several days. The pain can be dull, throbbing, stabbing, or tearing. Each episode of crisis may have varying types and intensities of pain.

Another form of crisis is one that can results in a rapid and profound anemia. This is because the spleen gets enlarged by trapping the abnormal red cells. This is called sequestration crisis. The patient develops a large spleen and complains of fatigue, weakness, and pain in abdomen. Sickle cell crisis can be triggered by cold or dehydration.

You were diagnosed thalassemia and blood transfusions are a part of your routine. You now want to plan a family and are not sure if your child too would fall prey to the disorder, and have a life crippled with repeated blood transfusions. You should know what you can do to ensure you have a healthy life and a normal baby.

Understanding thalassemia

Thalassemia, also called Mediterranean anemia, is a disorder that affects the red blood cells (RBCs). In this disorder, the oxygen carrying protein, called hemoglobin, is affected. This in turn causes excessive destruction of RBCs, and hence leads to anemia. Hemoglobin is made of two different chains called the alpha and beta chains. Depending upon the part of hemoglobin affected, there are two types of thalassemia, i.e., alpha-thalassemia and beta-thalassemia.

Thalassemia is a genetic disorder that is caused by defect in genes and is inherited in families when a copy of a defective gene passes from the parents to the children. For the disorder to occur, both parents should possess and pass the defective gene to the offspring. If only one parent passes the gene to the child, then the child does not develop the typical features of the disease. The child then develops a condition called thalassemia trait that does not need treatment. In this case, the child becomes a carrier of the defective gene.

The main risk factor for thalassemia is the defective gene running in the family. People who have a family member affected are at risk of developing the disease or passing it on the future generations. Certain ethnic groups have been identified for different thalassemias. These include the Asians, Chinese, and African Americans.

Symptoms

The symptoms of thalassemia depend upon the severity of the disease. People who are only carriers may not have any significant symptoms. Babies born with defective genes inherited from both the parents may show symptoms at birth and others may develop symptoms in the first two years of life. The symptoms are those of anemia, i.e., deficiency of red blood cells. These include weakness, tiredness, breathlessness, and irritability.

Thalassemia in children may result in a pale appearance and slow growth. Slowly there may be deformities in facial bones and protrusion of abdomen. Excessive destruction of red blood cells can lead to yellowish discoloration of the skin and darkening of urine.

Complications

Complication of thalassemia disease include iron overload, infection, bone deformities, slow growth, liver problems, enlarged spleen, and heart problems like congestion and rhythm disturbances in the heart.

Coping

Some precautions can help to cope with thalassemia. One should eat a healthy diet rich in calcium and vitamins. Folic acid supplements should be taken regularly to aid formation of new red cells. Any vitamin supplements with iron should be avoided. Excess of iron in diet or in supplements can be harmful. Tea helps to prevent absorption of iron in the gut as it contains tannins that bind iron. Tea is though not a replacement for chelation if one is required. It is important to prevent infections. One should wash hands frequently and avoid exposure to sources of infection like sick people. Family and friends are the best support. There are support groups that help to cope with the disease and make it easy to live with it. These help by providing useful information and easy access for help and treatment.

Anybody with thalassemia who is planning a baby should go for genetic counseling. This will help to determine the risk of passing the defective gene to the offspring. Screening for the genetic defect can be done by analysis of the set of genes in the baby before birth.

Outlook

Thalassemia is a life-long disease and needs regular medical attention. People with thalassemia can lead normal lives with proper precautions and treatment. They can even parent normal children with proper genetic counseling.

Diagnosis

The diagnosis is mainly done by doing blood tests.

• The RBCs are low in number and have a pale appearance. They vary in size and shape. The hemoglobin may be non-uniformly distributed in these calls giving them a ‘bull’s eye appearance’. All these features can be appreciated under a microscope.
• Further blood tests like hemoglobin electrophoresis and mutational analysis may be done to analyze the hemoglobin, and to detect any defective genes.
• Iron content in the blood may be measured.
• Physical examination may reveal a pale appearance and an enlarged spleen which is the site of destruction of defective RBCs. The spleen is situated near the stomach in the abdomen.

If parents suspect they may have a baby with thalassemia, they can have the baby tested before birth. The tests done in unborn babies include sampling and examination of the placenta, the tissue that connects the baby to the womb of the mother. This is done around 11th week of pregnancy and is called chorionic villus sampling. Another test called amniocentesis is done around the 16th week of pregnancy and involves sampling and examination of the fluid that bathes the baby in the womb. Fetal blood sampling is testing of the baby’s blood, usually done after 18 weeks of pregnancy. This is done by inserting a needle through the mother’s abdomen into the baby’s vessels under guidance of an ultrasound technique.

Treatment

Treatment of thalassemia depends upon the severity of the condition.

• Treatment mainly rests upon blood transfusions. The mild cases may occasionally need a blood transfusion after a surgical procedure or an infection. The moderate to severe cases need a blood transfusion several times in a year.
• Folate supplements can be given along with transfusions. These help in keeping red cells healthy.
• Repeated blood transfusions can cause harmful levels of iron to build up in the body. These need to be removed by a treatment called chelation. This may be done by giving pills of an injection under the skin.
• Lastly, bone marrow transplant may help the very severe cases but this carries several risks and need a compatible donor.