Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your

body than normal. Several types of thalassemia exist, including alpha-thalassemia, beta-thalassemia intermedia, Cooley's anemia and
Mediterranean anemia.
Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of
thalassemia may cause anemia, leaving you fatigued.
If you have mild thalassemia, you may not need treatment. But, if you have a more severe form of thalassemia, you may need regular
blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.

Thalassemia
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of
hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells
being destroyed, which leads to anemia.
Causes
Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps
control production of one of these proteins.
There are two main types of thalassemia:
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
Alpha thalassemias occur most often in persons from Southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur most often in persons of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African
Americans can be affected.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following
two forms:
Thalassemia major
Thalassemia minor
You must inherit the gene defect from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the faulty gene from only one parent. Persons with this form of the disorder are carriers of the
disease. Most of the time, they do not have symptoms.
Beta thalassemia major is also called Cooley's anemia.
Risk factors for thalassemia include:
Asian, Chinese, Mediterranean, or African American ethnicity
Family history of the disorder
Symptoms
The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of
pregnancy).
Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.
Other symptoms can include: Bone deformities in the face Fatigue Growth failure Shortness of breath
Yellow skin (jaundice) Persons with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Exams and Tests
Your doctor will do a physical exam to look for an enlarged spleen.
A blood sample will be sent to a laboratory to be tested.
Red blood cells will appear small and abnormally shaped when looked at under a microscope.
A complete blood count (CBC) reveals anemia.
A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
A test called mutational analysis can help detect alpha thalassemia.
Treatment
Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the
body, which can be harmful.
Persons who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the
body.
A bone marrow transplant may help treat the disease in some patients, especially children.
Outlook (Prognosis)
Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and
therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia often do not shorten lifespan.
You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children.
Possible Complications
Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.

http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm
Thalassemia symptoms include:
Fatigue Weakness Pale appearance Yellow discoloration of skin (jaundice) Facial bone deformities
Slow growth Abdominal swelling Dark urine
The signs and symptoms you experience depend on the type and severity of thalassemia you have. Some babies show signs and
symptoms of thalassemia at birth, while others may develop signs or symptoms during the first two years of life. Some people who
have only one affected hemoglobin gene don't experience any thalassemia symptoms.
http://www.mayoclinic.org/diseases-conditions/thalassemia/basics/symptoms/con-20030316
Causes
By Mayo Clinic Staff
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin the substance in your red blood cells that carries
oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of
red blood cell destruction, causing anemia. When you're anemic, your blood doesn't have enough red blood cells to carry oxygen to
your tissues leaving you fatigued.
Types of thalassemia
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the
hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules
are made of alpha and beta parts that can be affected by mutations.

Alpha-thalassemia
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
One mutated gene, you'll have no signs or symptoms of thalassemia. But, you are a carrier of the disease and can pass it on to your
children.
Two mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia minor, or you
may be told you have an alpha-thalassemia trait.
Three mutated genes, your signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease.
Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery
or a newborn to die shortly after birth.
Beta-thalassemia
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
One mutated gene, you'll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-
thalassemia trait.
Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major, which is also
known as Cooley's anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and
symptoms within the first two years of life. A milder form, called beta-thalassemia intermedia, also may occur with two mutated genes.

Complications
By Mayo Clinic Staff
Possible complications of thalassemia include:
Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood
transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes glands that produce
hormones that regulate processes throughout your body.
Infection. People with thalassemia have an increased risk of infection. This is especially true if you've had your spleen removed.
In cases of severe thalassemia, the following complications can occur:
Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal
bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of
broken bones.
Enlarged spleen (splenomegaly). The spleen helps your body fight infection and filter unwanted material, such as old or damaged
blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells, making your spleen work harder
than normal, causing your spleen to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood
cells. If your spleen grows too big, it may need to be removed.
Slowed growth rates. Anemia can cause a child's growth to slow. Puberty also may be delayed in children with thalassemia.
Heart problems. Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with
severe thalassemia.
Tests and diagnosis
By Mayo Clinic Staff
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects
your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope
Blood tests may also be used to:
Measure the amount of iron in your child's blood
Evaluate his or her hemoglobin
Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
Prenatal testing
Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Tests used to diagnose
thalassemia in fetuses include:
Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the
placenta for evaluation.
Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds
the fetus.
Assisted reproductive technology
A form of assisted reproductive technology that combines pre-implantation genetic diagnosis with in vitro fertilization may help parents
who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves
retrieving mature eggs from a woman and fertilizing them with a man's sperm in a dish in a laboratory. The embryos are tested for the
defective genes, and only those without genetic defects are implanted in the woman.
Tests and diagnosis
By Mayo Clinic Staff
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects
your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope
Blood tests may also be used to:
Measure the amount of iron in your child's blood
Evaluate his or her hemoglobin
Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
Prenatal testing
Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Tests used to diagnose
thalassemia in fetuses include:
Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the
placenta for evaluation.
Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds
the fetus.
Assisted reproductive technology
A form of assisted reproductive technology that combines pre-implantation genetic diagnosis with in vitro fertilization may help parents
who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves
retrieving mature eggs from a woman and fertilizing them with a man's sperm in a dish in a laboratory. The embryos are tested for the
defective genes, and only those without genetic defects are implanted in the woman.
How Are Thalassemias Diagnosed?
Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.
A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People
who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or
beta thalassemia trait may have red blood cells that are smaller than normal.
Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemias have problems with the alpha or
beta globin protein chains of hemoglobin.
Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including
severe anemia, often occur within the first 2 years of life.
People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. Doctors might
suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (For more
information, go to "Who Is at Risk for Thalassemias?")
Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. Iron-
deficiency anemia occurs if the body doesn't have enough iron to make hemoglobin. The anemia in thalassemia occurs because of a
problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron.
Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder.
These studies involve taking a family medical history and doing blood tests on family members. The tests will show whether any family
members have missing or altered hemoglobin genes.
If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a
genetic counselor. They can help determine your risk for passing the disorder to your children.
If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing.
Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. (Amniotic fluid is the fluid in the sac surrounding
a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother's womb.) Tests done on the fluid or tissue
can show whether your baby has thalassemia and how severe it might be.

Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or
sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels,
blocking blood flow. This can cause pain and organ damage.
A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you
only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.
The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might
have shortness of breath, dizziness, headaches, or coldness in the hands and feet.
A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.
Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are
investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.
http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html
Overview

Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower than normal number of red blood cells.
This condition also can occur if your red blood cells don't contain enough hemoglobin.

Red blood cells are made in the spongy marrow inside the larger bones of the body. Bone marrow is always making new red blood cells
to replace old ones. Normal red blood cells live about 120 days in the bloodstream and then die. They carry oxygen and remove carbon
dioxide (a waste product) from your body.
In sickle cell anemia, the abnormal sickle cells usually die after only about 10 to 20 days. The bone marrow can't make new red blood
cells fast enough to replace the dying ones.
Sickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They inherit two genes for sickle
hemoglobinone from each parent.
People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have a condition called sickle
cell trait.
Sickle cell trait is different than sickle cell anemia. People who have sickle cell trait don't have the disease. Like people who have sickle
cell anemia, people who have sickle cell trait can pass the sickle hemoglobin gene to their children.

Outlook
Sickle cell anemia has no widely available cure. However, treatments to improve the anemia and lower complications can help with the
symptoms and complications of the disease in both children and adults. Blood and marrow stem cell transplants may offer a cure for a
small number of people.
Over the past 100 years, doctors have learned a great deal about sickle cell anemia. They know its causes, how it affects the body, and
how to treat many of its complications.
Sickle cell anemia varies from person to person. Some people who have the disease have chronic (long-term) pain or fatigue (tiredness).
However, with proper care and treatment, many people who have the disease can have improved quality of life and reasonable health
much of the time.
Because of improved treatments and care, people who have sickle cell anemia are now living into their forties or fifties, or longer.
What Causes Sickle Cell Anemia?
Sickle cell anemia is an inherited disease. People who have the disease inherit two genes for sickle hemoglobinone from each parent.

Sickle hemoglobin causes red blood cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood
flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for
infection.

Sickle Cell Trait

People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have sickle cell trait. Their
bodies make both sickle hemoglobin and normal hemoglobin.

People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However, some people may have medical
complications.
People who have sickle cell trait can pass the sickle hemoglobin gene to their children. The following image shows an example of an
inheritance pattern for sickle cell trait.

Example of an Inheritance Pattern for Sickle Cell Trait
The image shows how sickle hemoglobin genes are inherited. A person inherits two hemoglobin genesone from each parent. A
normal gene will make normal hemoglobin (A). A sickle hemoglobin gene will make abnormal hemoglobin (S).

The image shows how sickle hemoglobin genes are inherited. A person inherits two hemoglobin genesone from each parent. A
normal gene will make normal hemoglobin (A). A sickle hemoglobin gene will make abnormal hemoglobin (S).

When both parents have a normal gene and an abnormal gene, each child has a 25 percent chance of inheriting two normal genes; a 50
percent chance of inheriting one normal gene and one abnormal gene; and a 25 percent chance of inheriting two abnormal genes.