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Thalassaemia  

 

 


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.


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