Thalassemias
Pathophysiology
Pathophysiology of alpha- and beta-thalassemia: therapeutic implications.
Rund D, Rachmilewitz E.
Semin Hematol. 2001;38:343-349.
Description: Detailed review of the underlying pathophysiology of both a and b thalassemia, which is to then be the basis in developing novel therapies.
PubMed citation number: 11605169
Thalassemia: pathophysiology of red cell changes.
Schrier SL.
Annu Rev Med. 1994;45:211-218.
Description: Effect of excess a and b globin chain accumulation on red cell membrane on disease pathophysiology and clinical heterogeneity.
PubMed citation number: 8198378
Pathophysiology of thalassaemia.
Weatherall DJ.
Baillieres Clin Haematol. 1998;11:127-146.
Description: General review mechanisms of injury due to altered globin chain synthesis and accumulation in the both a and b thalassemia.
PubMed citation number: 10872475
Genetic factors affecting clinical severity in beta-thalassemia syndromes.
Winichagoon P, Fucharoen S, Chen P, Wasi P.
J Pediatr Hematol Oncol. 2000;22:573-580.
Description: Study of specific genetic abnormalities in patients with b thalassemia and association with disease severity found certain mutations did predict a more severe course; however, confounding variables were also important in outcome.
PubMed citation number: 11132233
Diagnosis
Molecular diagnosis of haemoglobin disorders.
Clark BE, Thein SL.
Clin Lab Haematol. 2004;26:159-176.
Description: Comprehensive review of molecular diagnostic techniques including DNA analysis, PCR and gel electrophoresis followed by recommended diagnostic approaches to various hemoglobinopathies and future directions in molecular diagnosis.
PubMed citation number: 15163314
Screening and genetic diagnosis of haemoglobin disorders.
Old JM.
Blood Rev. 2003;17:43-53.
Description: Molecular methods for determining genotype and phenotype and discriminating between different hemoglobinopathies.
PubMed citation: 12490210
Treatment
New developments in iron chelators.
Cunningham MJ, Nathan DG.
Curr Opin Hematol. 2005;12:129-134.
Description: For each novel iron chelating agents, data from both retrospective reviews and prospective clinical trials and resulting patient outcome is presented.
PubMed citation number: 15725903
Iron-chelating therapy and the treatment of thalassemia.
Olivieri NF, Brittenham GM.
Blood. 1997;89:739-761.
Description: Discussion of the complications of iron overload described by organ system, methods of assessing total body iron level and the use of chelation particularly experiences with deferoxamine.
PubMed citation number: 9028304
New strategies in the treatment of the thalassemias.
Schrier SL, Angelucci E.
Annu Rev Med. 2005;56:157-171.
Description: Treatment alternatives for patients with thalassemia including general hematologic treatment, management of specific associated conditions or complications, data from stem cell transplant studies and potential for gene therapy.
PubMed citation number: 15660507
Review
Thalassemia.
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E.
Hematology (Am Soc Hematol Educ Program). 2004:14-34.
Description: Clinical discussion of thalassemia with a focus on epidemiology, advances in iron chelation, complications of iron overload specifically cardiac toxicity and complications seen in adult patients with thalassemia.
PubMed citation number: 15561674
Thalassemia: current approach to an old disease.
Lo L, Singer ST.
Pediatr Clin North Am. 2002;49:1165-1191.
Description: General review of thalassemia including molecular mechanisms, diagnosis, clinical presentation and disease complications.
PubMed citation number: 12580361