Anemias

Many types of anemias require clinical care by a physician or other health care professional. Listed in the directory below are some, for which we have provided a brief overview.

Aplastic Anemia

What is aplastic anemia?
Aplastic anemia occurs when the bone marrow produces too few of all three types of blood cells: red blood cells, white blood cells, and platelets. A reduced number of red blood cells causes hemoglobin to drop. A reduced number of white blood cells makes the patient susceptible to infection. And, a reduced number of platelets causes the blood not to clot the way it should.
What causes aplastic anemia?
Aplastic anemia has multiple causes. Some of these causes are idiopathic, meaning they occur sporadically for no known reason. Other causes are secondary, resulting from a previous illness or disorder. Acquired causes, however, may include the following:
History of specific infectious diseases, such as hepatitis, Epstein-Barr virus (EBV), cytomegalovirus (CMV), parvovirus B19, or HIV
History of taking certain medications, such as antibiotics and anticonvulsants
Exposure to certain toxins, such as heavy metals
Exposure to radiation
History of an autoimmune disease, such as lupus
Inherited condition
What are the symptoms of aplastic anemia?
The following are the most common symptoms of aplastic anemia. However, each individual may experience symptoms differently. Symptoms may include:
Headache
Dizziness
Nausea
Shortness of breath
Bruising
Lack of energy or tiring easily (fatigue)
Abnormal paleness or lack of color of the skin
Blood in stool
Nosebleeds
Bleeding gums
Fevers
Sinus tenderness
Enlarged liver or spleen
Oral thrush (white patches on a red, moist, swollen surface, occurring anywhere in the mouth)
The symptoms of aplastic anemia may resemble other blood disorders or medical problems. Always consult your doctor for a diagnosis.
How is aplastic anemia diagnosed?
In addition to a complete medical history and physical examination, diagnostic procedures for aplastic anemia may include:
Blood tests. These may include blood chemistries, evaluation of liver and kidney functions, and genetic studies.
Bone marrow aspiration and/or biopsy. A procedure that involves taking a small amount of bone marrow fluid (aspiration) and/or solid bone marrow tissue (called a core biopsy), usually from the hip bones, to be examined for the number, size, and maturity of blood cells and/or abnormal cells.
Treatment for aplastic anemia
Specific treatment for aplastic anemia will be determined by your doctor based on:
Your age, overall health, and medical history
Extent of the disease
Your tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
Your opinion or preference
Aplastic anemia is a serious illness, and treatment usually depends on the underlying cause. For certain causes, recovery can be expected after treatment; however, relapses can occur. To treat the low blood counts, initially treatment is usually supportive, meaning that it is necessary to treat the symptoms, but not possible to cure the disease. Supportive therapy may include:
Blood transfusion (both red blood cells and platelets)
Preventative antibiotic therapy
Meticulous hand-washing
Special care to food preparation (such as only eating well-cooked foods)
Avoiding construction sites, which may be a source of certain fungi
Medications (to stimulate the bone marrow to produce cells)
Immunosuppressive therapy
Hormone therapy
In the appropriate patient, bone marrow transplantation may cure aplastic anemia.

G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency

What is G6PD deficiency?

G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase (an enzyme present in red blood cells) in the blood, which can cause a type of anemia known as hemolytic anemia. Red blood cells carry oxygen in the body, and G6PD protects these cells from molecules called reactive oxygen that may build up when you have a fever or take certain medications. If there are too many of these chemicals, they can destroy the red blood cells, causing hemolytic anemia. G6PD deficiency is inherited--people are born with the deficiency. It occurs most often in males.

What is hemolytic anemia?

Hemolytic anemia is a disorder in which the red blood cells are destroyed faster than the bone marrow can produce them. In G6PD deficiency, hemolytic anemia is most often triggered by infection (bacterial or viral) or by taking certain medications.

What are the symptoms of hemolytic anemia?

The following are the most common symptoms of hemolytic anemia. However, each individual may experience symptoms differently. Symptoms may include: Abnormal paleness or lack of color of the skin Jaundice, or yellowing of the skin, eyes, and mouth Dark-colored urine Fever Weakness Dizziness Confusion Intolerance to physical activity Enlargement of the spleen and liver Increased heart rate (tachycardia) Heart murmur The symptoms of hemolytic anemia may resemble other blood disorders or medical problems. Always consult your doctor for a diagnosis.

Why be concerned about G6PD deficiency?

Certain medicines, foods, and other factors can cause reactive oxygen to build up in the body. People with G6PD deficiency cannot protect their red blood cells against the buildup of this reactive oxygen and the blood cells are destroyed, causing anemia. Therefore, people with G6PD deficiency need to avoid certain medicines, such as aspirin (acetylsalicylic acid), certain antibiotics used to treat infections, fava beans, and moth balls.

What causes G6PD deficiency?

G6PD deficiency is inherited by a gene on the X chromosome. Chromosomes are the structures in our cells that contain our genes; genes code for all of our traits, such as eye color and blood type. All humans have 46 chromosomes, or 23 pairs; the last pair determines gender: females have two X chromosomes, while males have one X and one Y chromosome. G6PD deficiency is inherited from females who carry one copy of the gene on one of their X chromosomes. Sons who receive the gene have G6PD deficiency, and daughters who receive the gene are carriers (who generally do not show any symptoms). The deficiency is rare in females because the mutation would have to occur in both copies of the gene to cause the disorder, whereas, in males, only one abnormal copy of the gene is required.

Certain ethnic groups have an increased incidence of G6PD deficiency than others. G6PD deficiency is seen in about 10 percent of African-American males in the U.S., and is also common in people from the Mediterranean area, Africa, or Asia. The severity of G6PD deficiency differs among different populations. In the most common form in the African-American population, the deficiency is mild and the hemolysis (destruction of red blood cells) affects primarily older red blood cells. In whites, G6PD deficiency tends to be more serious, as even young red blood cells are affected.

How is G6PD deficiency diagnosed?

G6PD deficiency can be diagnosed by a simple blood test. If your ancestors come from an area where G6PD deficiency is common, or if you have a family history of G6PD deficiency or unknown anemia, you should consult your doctor about having this blood test. However, the blood test may be normal in a patient with G6PD deficiency if it is done during or immediately following an acute episode of hemolysis.

Treatment for G6PD deficiency

In most cases, G6PD deficiency does not cause problems for individuals, unless they are exposed to medications or foods that may damage their blood cells. People with G6PD deficiency can tolerate small amounts of these exposures, depending on the specific defect present in the gene. Specific treatment for G6PD deficiency anemia will be determined by your doctor based on:

Your age, overall health, and medical history Extent of the disease Your tolerance for specific medications, procedures, or therapies Expectations for the course of the disease Your opinion or preference Treatment may include: Avoidance of certain medications, foods, and environmental exposures Informing health care providers that you have G6PD deficiency Consulting with your doctor before taking any medication

Hemolytic Anemia

What is hemolytic anemia?
Hemolytic anemia is a disorder in which the red blood cells are destroyed faster than the bone marrow can produce them. The term for destruction of red blood cells is hemolysis. There are two types of hemolytic anemia, intrinsic and extrinsic:
Intrinsic The destruction of the red blood cells is due to a defect within the red blood cells themselves. Intrinsic hemolytic anemias are often inherited, such as sickle cell anemia and thalassemia. These conditions produce red blood cells that do not live as long as normal red blood cells.
Extrinsic Red blood cells are produced healthy but are later destroyed by becoming trapped in the spleen, destroyed by infection, or destroyed from drugs that can affect red blood cells. In severe cases the destruction takes place in the circulation. Possible causes of extrinsic hemolytic anemia include:
Infections, such as hepatitis, cytomegalovirus (CMV), Epstein-Barr virus (EBV), typhoid fever, E. coli (escherichia coli), mycoplasma pneumonia, or streptococcus Medications, such as penicillin, antimalaria medications, sulfa medications, or acetaminophen Leukemia or lymphoma Autoimmune disorders, such as systemic lupus erythematous (SLE, or lupus), rheumatoid arthritis, Wiskott-Aldrich syndrome, or ulcerative colitis Various tumors Hypersplenism Mechanical heart valves that may shear red blood cells as they leave the heart Autoimmune hemolytic anemia, in which the body's immune system creates an antibody against its own blood cells Some types of extrinsic hemolytic anemia are temporary and resolve over several months. Other types can become chronic with periods of remissions and recurrence.
What are the symptoms of hemolytic anemia?
The following are the most common symptoms of hemolytic anemia. However, each individual may experience symptoms differently. Symptoms may include: Abnormal paleness or lack of color of the skin Jaundice, or yellowing of the skin, eyes, and mouth Dark-colored urine Fever Weakness Dizziness Confusion Intolerance to physical activity Enlargement of the spleen and liver Increased heart rate (tachycardia) Heart murmur The symptoms of hemolytic anemia may resemble other blood conditions or medical problems. Always consult your doctor for a diagnosis.
How is hemolytic anemia diagnosed?
Hemolytic anemia may be suspected from general findings on a complete medical history and physical examination, such as complaints of tiring easily, pale skin and lips, or a fast heartbeat (tachycardia). In addition to a complete physical examination, your doctor may order the following diagnostic tests: Blood tests. These tests measure hemoglobin and reticulocyte count and will reveal how many new red blood cells are being produced. Additional blood tests. These tests check liver function as well as the presence of certain antibodies. Urine tests for hemoglobin Bone marrow aspiration and/or biopsy. A procedure that involves taking a small amount of bone marrow fluid (aspiration) and/or solid bone marrow tissue (called a core biopsy), usually from the hip bones, to be examined for the number, size, and maturity of blood cells and/or abnormal cells. Treatment for hemolytic anemia Specific treatment for hemolytic anemia will be determined by your doctor based on: Your age, overall health, and medical history Extent of the disease Cause of the disease Your tolerance for specific medications, procedures, or therapies Expectations for the course of the disease Your opinion or preference The treatment for hemolytic anemia will vary depending on the cause of the illness. Treatment may include: Blood transfusions Corticosteroid medications Treatment with intravenous immune globulin (to strengthen the immune system) Rituximab In more severe cases, the following treatments may be necessary and usually require hospitalization: Exchange transfusion (similar to a blood transfusion but with more blood being given and an equal amount of hemolyzed blood being removed) Surgical removal of the spleen Immunosuppressive therapy