BETA THALASSEMIA

TYPES

Alpha Thalassemia

• It refers to the lack of Alpha chains that leads to inefficient hemoglobin structure. Alpha Thalassemia is further divided into three based on the seriousness and the number of affected genes
• Alpha Thalassemia Carrier- Does not exhibit any signs and symptoms since only  one gene is affected
• Alpha Thalassemia Trait- Presence of mild signs and symptoms. It is due to the presence of 2 affected genes
• Alpha Thalassemia Major- Presents with moderate to severe symptoms resulting from 3 affected genes.

Beta Thalassemia

• It refers to the deficiency of the Beta chains. 
• Thalassemia Minor- Presents with negligible signs and symptoms.
• Thalassemia Major- Presents with moderate to severe symptoms.

SYMPTOMS

Since the production of hemoglobin is impaired, this also results in a decrease in the amount of oxygen carried by the red blood cells. A patient with thalassemia can felt the following symptoms.

• A person feels tired most of the time, easy fatigability
• A sensation of spinning- can sometimes lead to unexpected fall from an upright position
• Air hunger- Persons with thalassemia often describe the feeling of lack of air, and most of them take small breaks to catch their breath, especially if treading uphill.
• Rapid heart rate or palpitations
• Throbbing sensation in the head- this results from the lack of oxygen in the brain
• Feeling of tiredness on the lower extremities- This results from the accumulation of lactic acid in the muscles
• Poor focus and memory
• Sallow complexion
• Brittle bones – results from overactivity of the bone marrow

DIAGNOSIS

Thalassemia is passed on to your offspring. It is not readily detected immediately after birth, but symptoms usually appear in the first year of life. Some tests can be done during your prenatal checkup, especially if you have a family history of thalassemia.

• Testing of the chorionic villi for genetic abnormalities- This procedure is done by inserting a needle in the abdomen and removing a sample of the placenta to be analyzed.
• Complete blood count- a direct visualization of the red blood cell structure on a freshly mounted blood specimen can support the diagnosis of thalassemia.
• Hemoglobin electrophoresis

TREATMENT

Treatment options are dependent upon the severity of the symptoms on the presentation. 

• Blood transfusion- Given to individuals or patients that are found to have low hemoglobin and are symptomatic.
• Avoidance of iron supplements. In cases wherein several blood transfusions were done, removal of excess iron stores is necessary using chelating agents such as deferoxamine, deferasirox, and defepirone.
• An appropriate diet composed of low fat and plant-based products. Folic acid supplementation has proven to be effective among patients with thalassemia.