Thalassemia is red blood cell malformation (inherited) and leads to anemia due to hemoglobin disorder. Hemoglobin is a protein that carries oxygen, when the hemoglobin reduced causes abnormal body growth and effects on our brain . This happens because the oxygen that reaches to it is not enough.

Thalassemia is inherited, which means at least one of our parents must be carrying mutated genes that involve hemoglobin production.

Thalassemia

Types of thalassemia:

Alpha thalassemia :

Happens when the gene involved in alpha globin protein is mutated, and occurs most often in Africa, the Middle East, Southeast Asia, and China.

Beta thalassemia :

Happens when the gene involved in beta globin protein is mutated, and occurred most often in people of Mediterranean origin.

Delta-thalassemia :

Happens when the gene that produced delta chain is mutated.

Alpha and Beta thalassemia include two forms as follows:

Thalassemia major  usually happens by defective gene inheritance from both parents. If our children don’t have treatment, they usually die between one and eight years of age.

Thalassemia minor (Cooley’s anemia) that happens by defective gene inheritance from only one of the parents. Children with thalassemia minor do not appear on them any symptoms, so they are called carriers of the disease.

Thalassemia blood

Symptoms:

Babies born with thalassemia have anemia that developed to severe anemia at the first year . Fatigue, yellow skin, dark urine, headache, irritability, spleen enlargement, bone disorder, Zinc deficiency, weakness, abnormal swelling, irregular menses, slow growth, and other symptoms of thalassemia can eventually cause heart failure and death.

Diagnosis:

Thalassemia was diagnosed by complete blood picture test analysis by showing malformation of red blood cells through the microscope.

Treatment:

Thalassemia treatment often occurrs by blood transfusions folate supplements, spleen surgery removal, bone marrow transplant and stem-cell transplant.

During treatment we should avoid vitamins and supplements containing iron because we already have enough iron supply from the blood transfusion, and that leads to a lot of iron amounts in our body. When the iron amount becomes too high in our body, we need  chelation therapy to remove extra iron from our body.

children from getting thalassemia

How can we prevent our children from getting thalassemia?

We can avoid this disease by before marriage tests’ analysis, especially complete blood count (CBC), hemoglobin level, Hemoglobin electrophoresis and by knowing the family history of the disease.

Prenatal tests also help, which are done in the 11th week of pregnancy by removal of a tiny part of the placenta and in the 16th week of pregnancy by taking and analyzing fluid surrounding fetus.

Before Marriage and Having Kids 

The marriage of a man and woman who are carriers of the disease makes the possibility of infecting their children with the disease 30% with every child they have, which is very high.  The hemoglobin is too weak to do its job, which requires blood transfusions continued for the patient, and therefore increases the deposition of iron in many body parts, spleen, heart, and may cause failure, and can lead to death.

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