THALASSAEMIA. Konstantinidou Eleni Siligardou Mikela-Rafaella. THALASSAEMIA. The thalassaemias are a group of inherited hematological disorders caused by defects in the synthesis of one or more of the hemoglobin ( Hb ) chains.
The thalassaemias are a group of inherited hematological disorders caused by defects in the synthesis of one or more of the hemoglobin (Hb) chains.
β-Thalassaemia is caused by reduced or absent synthesis of ß-globin chains.
α-Thalassaemia is caused by reduced or absent synthesis of α-globin chains. Globin-chain imbalances cause hemolysis and impair erythropoiesis.
Globally, an estimated 15 million people have thalassaemia
Hemoglobin (Hb) consists of an iron-containing heme ring and four globin chains: two α and two non-α.
The composition of the four globin chains determines the Hb type.
α –thalassaemia affect α-chain synthesis
β –thalassaemia affect β-chain synthesis
HSCT = hematopoietic stem cell transplantation
An absence or deficiency of α-chain synthesis due to delation of α-genes.
α-Thalassaemia is characterized by the deficient production of the α-globin chains of hemoglobin (Hb). This typically arises due to mutations in the α-globin gene.
Forms of α-Thalassaemia
α-Thalassaemia is one of the most common hemoglobin genetic abnormalities. It can be divided into four clinical conditions of increasing severity.
Diagnostic methods for β-thalassaemia major include:
Potentially Curative Treatment
Presentation at Seminar on observation of World Thalassaemia Day 2009
Presentation: 10 May 2009, Dinajpur Medical College