Thalassemia Intermedia
This is a type of Beta Thalassemia where there is a mutation of the HBB Gene of the 11th Chromosome.
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How severe this disease is depends on the mutation
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This is also known as moderate thalassemia as it is in between thalassemia major and thalassemia minor.
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Individuals who have the condition have the capacity to live a normal life without the regular need of transfusions like in thalassemia major.
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The condition results in the reduce rate of hemoglobin chain synthesis
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It is characterized by the presence of abnormal hemoglobin cells
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It is differentiated from sickle cell anemia because thalassemia is characterized by a decrease in the number of hemoglobin where sickle cell anemia is characterized by the presence of abnormal cells.
Thalassemia Intermedia Symptoms
The following are some of the possible symptoms that are presented by patients with this kind of thalassemia ailment.
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Anemia – this is the main symptom of thalassemia. It presents in a number of symptoms, including
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Weakness
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Pallor
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Fatigue
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Syncope
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Breathing difficulties (breathlessness)
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Poor tolerance to exercise
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Stomach pain as a result of problems with the spleen or of the gallbladder
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Poor growth
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Jaundice
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Maxillary Hyperplasia
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Dental Malocclusions
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Non-Pathologic Fractures
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Cholelithiasis
Always, it is a good idea to watch out for these symptoms to ensure that the patient will be able to be brought medical attention as soon as possible, if necessary.
Thalassemia Intermeida Diagnosis
Diagnostic tests are necessary to determine if a patient does have thalassemia intermedia. These diagnostic tests include:
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Blood studies (CBC, Hemoglobin Electrophoresis)
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Family history – since thalassemia is a familial disease, it is important to look at a patient’s family history.
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DNA Testing – can help determine if a patient does have thalassemia and can also find out carrier status.
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Genetic testing
Thalassemia Intermedia Treatment
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Blood Transfusions – the transfusions in moderate thalassemia will not be as frequent as in the severe form of the disease
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There are also medications that can be provided to the patient to ensure that the ailment is controlled.
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Treatment plants also include removal of excess iron in the blood.
Patients who get frequent transfusions may suffer from a buildup of iron in the blood. This can make the prescription of iron removing drugs necessary as too much iron in the body can damage the kidney and the liver.