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THALASSEMIA

Thalassemia is a group of inherited blood disorders which due to defects in the synthesis of globin chains of hemoglobins. The hemoglobin molecules have important function to bind oxygen in the lungs properly and deliver it to all tissues in other parts of the body. Humans have different hemoglobins at various stages of development. The main hemoglobin (Hb) in normal adults called HbA (α2β2), comprising about 90% of the total, and a minor component HbA2 (α2δ2), comprising about 2-3%. In fetal life the main hemoglobin is HbF (α2γ2), traces of which are found in normal adults. Each individual globin chain has a haem moety attached to it, to which oxygen is bound. The disruption of hemoglobin molecules production and function can lead to anemia.

There are two common types of thalassaemia, alpha (α) and beta (β), which result from defective synthesis of alpha or beta chains. There are also rarer forms in which both delta (δ) and beta chain, or epsilon (ε), gamma (γ) and delta-chain production, is defective, called δβ or εγδβ thalassemia respectively.

In the world, thalassemias are the most common inherited single-gene disorder with high prevalence in areas where malaria was or is still endemic. Indonesia is among a group of countries with high prevalence of thalassemias. The burden of this disorder in many regions is of such a magnitude that it represents a major public health concern.

Based on the clinical manifestations, thalassemias can be divided into thalassemia major, intermedia and minor. Thalassemia major patients usually need blood transfusion throughout their life, while thalassemia intermedia due to infection or other circumstances may require occasional blood transfusions. The last is thalassemia minor/carrier/trait with asymptomatic phenotype but since they have mutant gene, have potentially pass it on to their offspring.

Our laboratory had done carrier screening and molecular characterization of thalassemia in Indonesian patient and population in order to support effort to decrease the prevalence of thalassemia in Indonesia.

Activities/Interests:

-  Detection and analysis of mutation spectrum of alpha and beta-thalassemia in patients.

-  Detection and analysis of mutation spectrum of alpha and beta-thalassemia in Indonesian population.

-  Thalassemia prenatal diagnosis: cases and problems.

-  Molecular mechanism and patophysiology of thalassemia.

-  Mutation detection in other genetic disorders, such as Spinal Muscular Atrophy, achondroplasia, thanatophoric dysplasia, and hypochondroplasia.

Related unit(s):

Publication

  1. The hemoglobin O mutation in Indonesia: distribution and phenotypic expression.
    J Hum Genet. 2001;46(9):499-505.
    PubMed