Thalassemia: Disease of abnormal form of Hemoglobin

Thalassemia: Disease of abnormal form of Hemoglobin

Thalassemia is a disease of blood. Thalassemia disease is hereditary, that is blood disorder is inherited. Hemoglobin is part of blood whose function is to carry oxygen in blood. In thalassemia the hemoglobin is of abnormal form. Due to this condition there is excessive destruction of the red blood cells which causes anemia.

Hemoglobin is a protein which is made up of Alpha globin and Beta globin. When there is a defect in the gene which controls production of any of the proteins Thalassemia occurs. Two types of Thalassemia are as per the defect in gene that is Alpha Thalassemia and Beta Thalassemia. There are four genes which are involved in making of the alpha globin. Two of genes you get from father and other two you get from mother. In making beta globin there are two genes involved, getting from both parents. Depending on how many mutated genes of the particular globin you get severity of the Thalassemia depends. Beta Thalassemia trait is common, as compared with other forms of thalassemia. Someone who has one beta thalassemia trait, mild anemia is thalassemia symptom. In this condition the red blood cells are smaller than normal. Small red cells are typical symptoms on iron deficiency anemia, many people who have beta thalassemia trait are misdiagnosed as with iron deficient and given iron pills. Iron pills don’t help and it rather builds up in tissues. Iron shouldn’t be given to such people, until they are diagnosed with iron deficiency. Test to detect deficiency of iron is to know ferretin level.

Signs and Symptoms of Thalassemia:

  • Fatigue
  • Shorthness of breath
  • Dark urine
  • Facial bone deformities
  • Slow growth
  • Pale appearance
  • Weakness
  • Irritability
  • Abdominal swelling

Symptoms of thalassemia are experienced as depending on the type as well as severity of the thalassemia person have. Babies show symptoms of thalassemia at birth, some develop symptoms over the first two years of life. Some people have only defected gene tend to have no experience of the symptoms. Thalassemia can be divided into two forms. Person who has major Thalassemia shows all symptoms of thalassemia. When each of the parents has a thalassemia trait gene, then their baby has major thalassemia. When one of the parents has thalassemia trait then baby can have minor thalassemia.

Description: Thalassemia is blood disorder, due to gene mutation which is responsible in making of the hemoglobin.

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