Molecular genetics of thalassemia syndromes / Reena Das and Prashant Sharma.

1. Introduction to normal hemoglobin and globin genes
1.1 Normal structure of the hemoglobin molecule
1.2 Globin gene clusters: structure and regulation
1.2.1 Structure of [Beta]-globin gene locus
1.2.2 Characteristics of the [alpha]-globin gene locus
1.3 Switching of globin genes from fetal life to adulthood
1.4 Mechanism of globin gene expression and their control


2. Classification and genetics of the thalassemias
2.1 [Beta]-thalassemia: general features
2.1.1 Clinical phenotype
2.2 Molecular pathogenesis of the [Beta]-thalassemias
2.2.1 Molecular basis of non-deletional [Beta]-thalassemia
2.2.2 Gene deletions in [Beta]-thalassemia
2.2.3 [Beta]- thalassemia transmitted as a dominant trait
2.2.4 Molecular bases of uncommon situations in [Beta]-thalassemia
2.3 Laboratory diagnosis of [Beta]-thalassemia mutations
2.4 Prevention of [Beta]-thalassemia based on screening and prenatal diagnosis
2.4.1 Screening of [Beta]- thalassemia
2.4.2 Prenatal diagnosis


3. Alpha thalassemia
3.1 Classification and clinical phenotypes
3.2 Molecular pathology of deletional and non-deletional [alpha]- thalassemias
3.3 Distribution of [alpha]+ deletional and [alpha]0 deletions and nondeletional forms
3.4 Laboratory diagnosis of [alpha]-deletions, point mutations, and triplications


4. Molecular genetics of thalassemia intermedia: genotype-phenotype correlation
4.1 Mild [Beta]-thalassemia mutations


5. Summary
Bibliography
Author biographies.