The Effects of Thalassemia in the Bloodline

Bunkechukwu Mehemed^*
*Correspondence: Dr. Bunkechukwu Mehemed, Department of Medical Laboratory Science, Elizade University of Ilara-Mokin, Ondo, Nigeria, Email:

Description

Thalassemias are inherited blood disorders that cause hemoglobin production to decrease. Symptom severity varies depending on the type and can range from none too severe. Anemia is a common condition that can range from mild to severe (low red blood cells or hemoglobin). Fatigue and skin pallor can be symptoms of anemia. It is also possible to have bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth is possible in children.

The type and severity of the condition determine treatment. Regular blood transfusions, iron chelation, and folic acid are frequently used in the treatment of those with more severe disease. Iron chelation can be accomplished using deferoxamine, deferasirox, or defer prone. A bone marrow transplant is occasionally an option. Complications from transfusions may include iron overload, which can lead to heart or liver disease, infections, and osteoporosis. If the spleen becomes too large, it may need to be surgically removed. Patients suffering from thalassemia who do not respond well to blood transfusions can be given hydroxyurea, thalidomide, or a combination of the two. The only FDA-approved drug for thalassemia is hydroxyurea. Patients who received 10 mg/kg hydroxyurea daily for a year had significantly higher haemoglo not respond well to blood transfusions. Thalidomide is anotherbin levels. It was also a well-tolerated treatment for patients who did not respond well to blood transfusions. Thalidomide is another hemoglobin-inducing agent, though it has not been tested in a clinical setting. The use of thalidomide and hydroxyurea increased hemoglobin levels significantly in both transfusiondependent and non-transfusion-dependent patients.

As of 2015, approximately 280 million people had thalassemia, with approximately 439,000 suffering from severe disease. It is most common among Italians, Greeks, Turks, Middle Easterners, South Asians, and Africans. Males and females have similar disease rates. It caused 16,800 deaths in 2015, compared to 36,000 deaths in 1990. Minor degrees of thalassemia, like those with sickle-cell trait, provide some protection against malaria, which explains why they are more common in malaria-endemic areas.

Signs and symptoms

Iron overload: People with thalassemia may experience iron overload as a result of the disease or from frequent blood transfusions. Iron overload can be harmful to the heart, liver, and endocrine system, which includes glands that produce hormones that regulate bodily processes. Excessive iron deposits characterize the damage. Almost all patients with beta-thalassemia accumulate potentially fatal iron levels in the absence of adequate iron chelation therapy.

Infection: People with thalassemia are more likely to become infected. This is especially true if your spleen has been removed.

Bone deformities: Thalassemia causes bone marrow to expand, causing bones to widen. This can cause abnormal bone structure, particularly in the face and skull. Bone marrow expansion also thins and brittleness bones, increasing the risk of fracture.

Spleen enlargement: The spleen aids in the fight against infection by filtering unwanted material such as old or damaged blood cells. Thalassemia is frequently associated with the destruction of a large number of red blood cells, and the process of removing these cells causes the spleen to enlarge. Splenomegaly can exacerbate anemia and shorten the life of transfused red blood cells. Severe splenic enlargement may necessitate its removal.

Slowed growth rates: Anemia can slow a child's growth, In children with thalassemia, puberty may also be delayed.

Heart problems: Severe thalassemia may be associated with diseases such as congestive heart failure and abnormal heart rhythms.

Thalassemia is being studied using gene therapy. The procedure entails extracting Hematopoietic stem cells (HSCs) from the patient's blood. A lent viral vector is then used to insert a betaglobin gene into the HSCs. After destroying the patient's bone marrow with chemotherapy (a myeloablative conditioning regimen), the altered HSCs are infused back into the patient, where they become engrafted and proliferate in the bone marrow. This could result in a gradual increase in hemoglobin A2 synthesis in all subsequent developing red blood cells, resulting in anemia resolution.