Thalassemia develops as a result of structural impairments of protein chain of hemoglobin secondary to a defect in hemoglobin-producing genes. All human beings have 46 chromosomes – structures that code our features. In fact, these chromosomes are 23 pairs. All human beings have a pair of 23 chromosomes. As a result, human beings have one pair of each gene that determines our features. There are also 2 hemoglobin-producing genes. The person will be completely normal if both hemoglobin-producing genes are normal.
If there is a problem with one of these hemoglobin-producing genes, the person will have thalassemia trait – carrier in other words-, and if there is a problem with both of these genes, thalassemia or Familial Mediterranean Fever occurs. Both mother and father should have carrier status for this condition. If a thalassemia carrier marries a person with normal hemoglobin-producing gene, their children will be carrier by 50% possibility at most. However, when a carrier person marries another carrier person, possibility of thalassemia will be 25 %, possibility of carrier status will be50 %, and children will be healthy with possibility of 25 %. Therefore, people with diagnosed carrier status are duly informed and referred to large-scale centers, where they can get genetic counseling and have tests, if they are getting married with people with same status.