thalassemia

Thalassemia is a congenital pathology in which the amount of hemoglobin and erythrocytes in the blood is reduced. There are many forms of thalassemia, including alpha thalassemia, beta thalassemia, Cooley's anemia, and hemolytic anemia.

Hemoglobin is a compound with the help of which erythrocytes carry oxygen In thalassemia, low levels of hemoglobin and red blood cells cause anemia, which in turn causes fatigue.

Mild thalassemia may not require treatment, while more severe forms may require regular blood transfusions. You can take steps to combat fatigue yourself, such as following a healthy diet and exercising regularly

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Thalassemia is caused by a mutation in the DNA of hemoglobin-producing cells Hemoglobin is needed by erythrocytes to carry oxygen Mutations associated with thalassemia are passed from parents to their children

The mutations that cause thalassemia prevent the formation of hemoglobin and cause low hemoglobin levels, increased breakdown of erythrocytes and, consequently, anemia In anemia, there are not enough red blood cells in the blood to carry oxygen, which causes fatigue

Forms of thalassemia

The form of thalassemia depends on the abnormal gene received from the parents and on which part of the hemoglobin molecule is damaged. The more gene mutations there are, the more severe the thalassemia The hemoglobin molecule consists of alpha and beta parts A mutation can develop in each

Alpha thalassemia

4 genes are involved in the formation of the alpha chain of hemoglobin You get 2 genes from each parent If you get:

1 abnormal gene, you will not have the signs and symptoms of thalassemia, although you may pass the gene on to your children

2 abnormal genes, you will have mild signs and symptoms This condition is called alpha thalassemia minor

3 abnormal genes, you will have moderate or severe symptoms This condition is called hemoglobin H disease

4 pathological findings, the condition is called alpha thalassemia major, i.e. fetal thalassemia At this time, the fetus usually dies in the womb or shortly after birth

Beta thalassemia

2 genes are involved in the formation of the beta chain of hemoglobin You get one gene from each parent If you get:

1 abnormal gene, you will have mild signs and symptoms This condition is called beta thalassemia minor

2 abnormal genes, you will have moderate or severe signs and symptoms This condition is called beta thalassemia major, also known as Cooley's anemia Children with two abnormal genes are healthy at birth, but develop symptoms in the first two years of life A milder form, beta thalassemia medium, can develop in the presence of two abnormal genes

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Symptoms of thalassemia are:

• fatigue
• weakness
• paleness
• yellowing of the skin
• deformation of facial bones
• retarded growth
• abdominal swelling
• dark Some children develop symptoms of thalassemia at birth, while others develop symptoms within the first two years of life Some people with only one defective gene have no symptoms
  
  When to see your doctor
  
  See your doctor if you have any signs or symptoms of thalassemia