Thalassemia Research Papers

The clinical types of thalassemias that are targets of prevention are β-thalassemia major resulting from homozygosity for β-thalassemia and Hb Bart’s fetal hydrops syndrome caused by deletion or dysfunction of all four α-globin genes (Weatherall and Clegg 2001).Thalassemias are among the commonest autosomal recessive disorders worldwide (Modell and Darlison 2008; Weatherall 2010a,b) and are prevalent in populations in the Mediterranean area, the Middle East, Transcaucasus, Central Asia, the Indian subcontinent, and the Far East.Furthermore, parents’ associations can play an invaluable role as an influential group by raising economical support for all aspects of thalassemia management and providing psychological assistance to parents.

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Formal education on thalassemias was also introduced in the educational curriculum at the end of secondary school (Cao et al. These programs were initially directed to couples with a previous affected child (retrospective diagnosis). This finding may facilitate the carrier detection and counseling thereby contributing to the success of the program.

Although very useful for individual families, retrospective diagnosis has a limited effect on the control of homozygous β-thalassemia at the population level. In our opinion, a carrier detection procedure should be designed to avoid missing any couple at risk.

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Worldwide 56,000 conceptions have a major thalassemia disorder of which approximately 30,000 are affected by β-thalassemia major and 3500 succumb perinatally from the hydrops fetalis syndrome.

Most (or many) of these patients are born in developing and low-income countries where they create an enormous health burden.

Because of worldwide criticism, the requirement for a certificate of premarital screening was withdrawn.

One of the obstacles for introducing prospective screening in Continental Europe is the lack of awareness among policymakers, health professionals, and groups at risk, of hemoglobin disorders and the failure to recognize that hemoglobin disorders nowadays present a significant health problem (Modell et al. In developing countries, it has been suggested that the ideal place where these preventive measures could be organized is through existing health care services.

Variability of clinical severity can be attributable to interactions with α-thalassemia and mutations that increase fetal productions.

Special methods taht are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis.


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