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thalasimia, what is it?

any doctors here who might help me with this. is thalasimia a disease, sickness or what? kasi i found it that it is hereditary e may father was diagnosed with having this sickness (?).what are the symptoms and is it the same as leukemia. kindly enlighten me on this. thanks a lot!!

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  • marblesmarbles PEx Veteran ⭐⭐
    It's Thalassemia. It's part of a group of hereditary hemolytic diseases. When we say hemolytic, it means that your red blood cells are more prone to destruction, and if it's severe, it can cause anemia because you have an inadequate number of red blood cells (RBCs) in your blood to carry oxygen to your body.

    Your red blood cell is composed of hemoglobin. In a normal adult, the hemoglobin is composed of 2 A units and 2 B units (A2B2). In a person with thalassemia, deletions or mutations take place in the gene that codes for the A and B units. Thalassemia is classified as Alpha if you lack the A units and Beta if you lack the B units. It is then further classified as either Major or minor, depending on whether both A or B units are missing or only one of them.

    Alpha thalassemia
    Since they lack the A units in their hemoglobin, the body compensates by producing another type of hemoglobin (4B units or 4 Gamma units) in increased amounts but is not as efficient as normal hemoglobin in carrying oxygen.

    There are 4 genes that code for the A unit. If only 1 of the 4 is affected, the person is known as a "silent carrier." because even if he has the disease, he does not show symptoms. If 2 of the 4 are defective, it's called an a-thalassemia trait. If all 4 are defective, it's fatal to the fetus.

    Beta thalassemia
    Beta units of hemoglobin are produced during the latter part of pregnancy, thus physical manifestations of this disease appear only after birth. There are only 2 genes that code for the B unit, thus if one is defective, the person is said to have the trait (aka B-thalassemia minor). People with the trait usually do not manifest any symptoms and can lead normal lives. However, if both genes are defective, it's called B-thalassemia major. Infants can become severely anemic during the 1st-2nd yr of life and require regular transfusions of blood.

    Symptoms
    • most patients with the alpha or beta thalassemia trait do not manifest symptoms
    • those with severe types may show paleness of the skin (pallor), yellowish of the whitish part of the eyes, enlargement of the spleen and/or the liver which presents as a mass in the abdomen
    • growth retardation in children
    • if with severe anemia, patients may present with exercise intolerance, signs of heart failure, heart murmurs

    Diagnosis
    Aside from the physical manifestations, there are also lab tests like complete blood count and a blood smear (to check for the morphology of the RBCs), determination of iron levels, hepatitis screening, etc. Additional tests may be required on a case-to-case basis.

    Treatment
    Those with severe forms of thalassemia require regular blood transfusions, and regular followups with their physician.
    Surgical removal of the spleen (splenectomy) may be required in some patients when the spleen becomes hyperactive, causing increased destruction of the red blood cells in addition to the inherent defect in the hemoglobin.
    Chelation therapy is used for patients frequently requiring transfusions in order to bind the excess iron in their bodies to prevent toxicity.

    Diet
    • normal diet with folic acid, vitamin C, and vitamin E supplementation
    • foods rich in iron should be avoided

    In your case, ask your father what specific type he was diagnosed with. All your family members must seek genetic counselling and must fully understand and comply with the treatments, the regular checkups, and the possible complications of the disease and the treatment.

    Thalassemia is not the same as leukemia wherein your white blood cells (aka WBCs; the ones responsible for fighting infection) are greatly increased in number but are defective. It's a type of cancer where you have abnormal growth of your WBCs, such that it crowds the bone marrow and displaces your platelets and red blood cells, thus also affecting their production. This results in anemia (inadequate number of circulating RBCs) and bleeding tendencies (due to inadequate numbers of platelets responsible for blood clotting).
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