What is Thalassemia?
Thalassemia is a genetic blood disorder. People with Thalassemia
disease are not able to make enough hemoglobin, which causes
severe anemia. Hemoglobin is found in red blood cells and carries
oxygen to all parts of the body. When there is not enough
hemoglobin in the red blood cells, oxygen cannot get to all parts
of the body. Organs then become starved for oxygen and
are unable to function properly.
There are two primary types of Thalassemia disease: Alpha
Thalassemia disease and Beta Thalassemia disease. Beta Thalassemia
Major (also called Cooley's Anemia) is a serious illness. Symptoms
appear in the first two years of life and include paleness of the
skin, poor appetite, irritability, and failure to grow. Proper
treatment includes routine blood transfusions and other therapies.
There are two main types of Alpha Thalassemia disease. Alpha
Thalassemia Major is a very serious disease in which severe anemia
begins even before birth and survival past the first few hours of
life is rare. Pregnant women carrying affected fetuses are
themselves at risk for serious pregnancy and delivery
complications. Another type of Alpha Thalassemia is Hemoglobin H
disease. There are varying degrees of Hemoglobin H disease that
your Health Care Provider can explain to you.
Causes,
incidence, and risk factors
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 commonly in persons from southeast
Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur in persons of Mediterranean origin, and to
a lesser extent, Chinese, other Asians, and African Americans.
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 defective gene from both parents to develop
thalassemia major.
Thalassemia minor occurs if you receive the defective gene from
only one parent. Persons with this form of the disorder are
carriers of the disease and usually 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
what are the 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 (which are identified by looking at their
red blood cells under a microscope), but no symptoms.
Signs and tests
A physical exam may reveal a swollen (enlarged) spleen.
A blood sample will be taken and sent to a laboratory for
examination.
• 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 that cannot be seen with hemoglobin electrophoresis.
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 significant numbers of blood transfusions need
a treatment called chelation therapy to remove excess iron from
the body.
Bone marrow transplant may help treat the disease in some
patients, especially children.
Expectations (prognosis)
Severe thalassemia can cause early death due to heart failure a,
usually between ages 20 and 30. Frequent blood transfusions with
therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia usually do not result in a
shorter life span.
Complications
Untreated, thalassemia major leads to heart failure and liver
problems, and makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but may result
in too much iron which can damage the heart, liver, and endocrine
system.
Treating Thalassemia
The vast majority of individuals who have thalassemia do not
require regular blood transfusions. There is a small group of
individuals who will require a blood transfusion occasionally, and
an even smaller group who require transfusions on a regular basis.
Generally, this category refers to individuals who are
transfusion-independent or who have had a few or occasional
transfusions, but who do not need regular, chronic transfusions in
order to thrive. The non- or intermittently-transfused patient
will usually have beta thalassemia intermedia, Hemoglobin H
disease, Hemoglobin H-Constant Spring, or a milder manifestation
of E-b thalassemia.
Over the past several decades with the progress of medical
technology, this once universally fatal disease has been converted
to a chronic illness. Now a fortunate few have the opportunity of
cure. Only a precious few children who have this complex disease
will be cured by a bone marrow transplant. The rest of these
children need continued support and acceptance that they may live
normal healthy lives in spite of their illness.
In this section, you will find comprehensive information on the
therapies used to treat Thalassemia including blood tranfusion and
blood and bone marrow transplantation.
Living with Thalassemia
Since thalassemia is a chronic illness, the key to successful
management of the disease is the integration of psychological
wellness and counseling along with medical care.
Health care providers will encounter many complex personal and
cultural issues when caring for thalassemia patients and their
families. These are our experiences.
In this section you will find information on what to expect from
your child's development, what to expect as a patient and ways in
which you can ease transitions.
Growing Stronger, Growing
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