Thalassemias are inherited blood disorders.

"Inherited" means
they are passed on from parents to children through genes. It causes the
body to make fewer healthy red blood cells and less hemoglobin than
normal. This condition is caused by a lower than normal number of red
blood cells or not enough hemoglobin in the red blood cells.
Causes
• Genes control how the body makes hemoglobin protein chains. When these
genes are missing or altered, thalassemias occur.

• Thalassemias are inherited disorders. That is, they're passed on from parents to
their children through genes. People who get abnormal hemoglobin genes
from one parent but normal genes from the other are called carriers. Carriers
often have no signs of illness other than mild anemia. However, they can pass
the abnormal genes on to their children.

• People with moderate to severe forms of thalassemia have inherited abnormal

genes from both parents.
Alpha Thalassemias
• Four genes (two from each parent) are needed to make enough alpha globin
protein chains. If one or more of the genes is missing, you will have alpha
thalassemia trait or disease. This means that you don't make enough alpha
globin protein.
• If you have only one missing gene, you're a silent carrier and won't have
any signs of illness.
• If you have two missing genes, you have alpha thalassemia trait (also called
alpha thalassemia minor). You may have mild anemia.
• If you have three missing genes, you likely will have hemoglobin H disease
(which a blood test can detect). This form of thalassemia causes moderate to
severe anemia.
Inheritance Pattern for Alpha Thalassemia

• The diagram shows one example of how alpha thalassemia is

inherited. The alpha globin genes are located on chromosome 16. A
child inherits four alpha globin genes - two from each parent. In this
example, the father is missing two alpha globin genes and the mother
is missing one alpha globin gene.
 Therefore, each child has a 25 percent chance of inheriting two
missing genes and two normal genes (thalassemia trait), three missing
genes and one normal gene (hemoglobin H disease), four normal genes
(no anemia), or one missing gene and three normal genes (silent carrier).
Beta Thalassemias
• Two genes (one from each parent) are needed to make enough beta globin
protein chains. If one or both of these genes are altered, you will have beta
thalassemia. This means that you don't make enough beta globin protein.

• If you have one altered gene, you're a carrier. This condition is called beta
thalassemia trait or beta thalassemia minor. It causes mild anemia.

• If both genes are altered, you will have beta thalassemia intermedia or beta
thalassemia major (also called Cooley's anemia). The intermedia form of the
disorder causes moderate anemia. The major form causes severe anemia.
Inheritance Pattern for Beta Thalassemia

• The diagram shows one example of how beta thalassemia is inherited.

The beta globin gene is located on chromosome 11. A child inherits
two beta globin genes?one from each parent. In this example, each
parent has one altered beta globin gene.
 Therefore, each child has a 25 percent chance of inheriting two
normal genes (no anemia), a 50 percent chance of inheriting one altered
gene and one normal gene (beta thalassemia trait), or a 25 percent
chance of inheriting two altered genes (beta thalassemia major).
Risk factors

• Family history and ancestry are the two risk factors for thalassemias. If
your parents have missing or altered hemoglobin-making genes.
Alpha thalassemias most often affect people of Southeast Asian,
Indian, Chinese, or Filipino origin or ancestry. Beta thalassemias most
often affect people of Asian, or African origin.
Signs and Symptoms
Signs and symptoms of thalassemias are due to lack of oxygen in the
bloodstream. This occurs because the body doesn't make enough healthy red blood
cells and hemoglobin. The severity of symptoms depends on the severity of the
disorder.
• No Symptoms: Alpha thalassemia silent carriers generally have no signs or
symptoms of the disorder. This is because the lack of alpha globin protein is so
small that hemoglobin works normally.
• Mild Anemia: People who have alpha or beta thalassemia trait can have mild
anemia. However, many people with this type of thalassemia have no signs or
symptoms. Mild anemia can make you feel tired. It's often mistaken for iron-
deficiency anemia.
• Moderate Anemia: People with beta thalassemia intermedia have mild to moderate
anemia. They also may have other health problems, such as:
• Slowed growth and delayed puberty. Anemia can slow down a child's growth and
development.
• It may make bone marrow (the spongy material inside bones that makes blood cells)
expand. This causes wider bones than normal. Bones also may be brittle and break
easily.
• An enlarged spleen. The spleen is an organ that helps your body fight infection and
removes unwanted material.
• Severe Anemia: People with hemoglobin H disease or beta thalassemia major (also
called Cooley's anemia) have severe thalassemia. Signs and symptoms occur within
the first 2 years of life.
• Pale and listless appearance, Poor appetite, Dark urine, Slowed growth and delayed
puberty, Jaundice , Enlarged spleen, liver, and heart and Bone problems (especially
bones in the face)
Complications

• Heart and Liver Disease _ Heart disease caused by iron overload is the
main cause of death in people who have thalassemias. Heart disease
includes heart failure, arrhythmias and heart attack.

• Infection _ infections are a key cause of illness and the second most
common cause of death. People who have had their spleens removed are at
even higher risk, because they no longer have this infection-fighting organ.

• Osteoporosis _ This is a condition in which bones are weak and brittle and
break easily.
Diagnoses
• Family medical history and doing blood tests on family members to show
whether any have missing or altered hemoglobin genes.
• Complete blood count (CBC) and special hemoglobin tests.
• Signs and symptoms, including severe anemia, appear within the first 2 years
of life.
• Routine blood test shows they have anemia.
• 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. Tests done on the fluid or tissue can show whether your baby has
thalassemia and how severe it's likely to be.
Treatment
Treatments for thalassemias depend on the type and severity of the disorder. Doctors
use three standard treatments for moderate and severe forms of thalassemia. These include
blood transfusions, iron chelation therapy, and folic acid supplements.

Standard Treatments

• Blood Transfusions - Red blood cells live for only about 120 days. So, you may need
repeated transfusions to maintain a supply of healthy red blood cells.

• Iron Chelation Therapy - Because the hemoglobin in red blood cells is an iron-rich
protein, regular blood transfusions can lead to a buildup of iron in the blood. This condition
is called iron overload. It damages the liver, heart, and other parts of the body. To prevent
this damage, iron chelation therapy is needed to remove excess iron from the body. Two
medicines are used for iron chelation therapy.
• Deferoxamine (Desferal) is a liquid medicine that's given slowly under the
skin, usually with a small portable pump used overnight.
• Deferasirox is a pill taken once a day.
• Folic Acid Supplements- Folic acid is a B vitamin that helps build healthy red
blood cells. You may need to take folic acid supplements in addition to blood
transfusions and iron chelation therapy.
Other Treatments - Blood and Marrow Stem Cell Transplant
• A blood and marrow stem cell transplant replaces your abnormal or faulty stem
cells with healthy ones from another person (a donor). Stem cells are the cells
inside bone marrow that make red blood cells and other types of blood cells.
• A stem cell transplant is the only treatment that can cure thalassemia. But only
a small number of people who have the severe form of the disorder are able to
find a good match among donors and have the risky procedure.
Hemophilia
Coagulation
• A rare inherited bleeding disorder in which the blood does not clot normally. Persons
with hemophilia may bleed for a longer time than others after an injury or accident.

• A person with hemophilia has a problem with certain proteins in the blood called
clotting factors. Hemophilia can be due to:

A low level of one of the clotting factors

A clotting factor that is completely missing

• When clotting factors are missing, body does not have enough of these factors; it can
take a long time for blood to clot after an injury or accident. Babies born with
hemophilia are missing or have a low level of a protein needed for normal blood
clotting or blood coagulation.
Types of hemophilia,
The two main types of hemophilia,
Hemophilia A: Clotting factor VIII (8) is low or missing.
Hemophilia B: Clotting factor IX (9) is low or missing.
• Hemophilia also can be acquired when antibodies to these clotting
factors form and block their function. Hemophilia can be:
Mild
Moderate
Severe
• Mild, moderate & severe hemophilia is determined by the amount of
clotting factor in the blood. About 7 of 10 people with hemophilia A
have the severe form.
Nursing management,

• Risk for deficient fluid volume related to bleeding

• Risk for impaired skin integrity related to ischemia or bleeding

• Potential for excess fluid volume related to excessive blood/ factor

component replacement

• Ineffective tissue perfusion related to microthrombi

• Anxiety and fear of the unknown and possible death.