Thalassaemia

Posted by e-Medical PPT Sunday, July 25, 2010
Thalassaemia is a inherited autosomal recessive hemoglobinopathy. There are different types of thalassaemia.Haemoglobin is made out of two 'alpha chains' and two 'beta chains' which are put together to make the haemoglobin molecule.In thalassaemia, defect of either the alpha chains or the beta chains.The main types of thalassaemia are called alpha thalassaemia and beta thalassaemia.Each type of thalassaemia has several sub types.The mildest types are called thalassaemia trait. The more severe beta types are beta thalassaemia major and beta thalassaemia intermedia.The more severe alpha forms are Hb Barts and Hb H disease.
Hb H disease is due to having three missing alpha haemoglobin genes.It usually causes a mild but persistent anaemia. Sometimes Hb H causes more symptoms and is similar to beta thalassaemia intermedia (explained below). Some people with Hb H disease need blood transfusions.
Hb Barts is the most severe form of alpha thalassaemia, where all the alpha haemoglobin genes are abnormal or missing. It occurs if a baby inherits two alpha zero thalassaemia genes. In this condition, no normal haemoglobin can be made, even before birth. It is the most serious form of thalassaemia - so serious that the baby will usually die in the uterus from severe anaemia.
Beta thalassemia major or Cooley's anemia results if both alleles have thalassemia mutations. This is a severe microcytic, hypochromic anemia. If Untreated, it causes anemia, splenomegaly, and severe bone deformities. It progresses to death before age twenty. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Cure is possible by bone marrow transplantation.
In Beta thalassemia minor only one beta globin allele bears a mutation. This is a mild microcytic anemia. Detection usually involves measuring the mean corpuscular volume and increased fraction of Hemoglobin A2 and a decreased fraction of Hemoglobin A.

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