Analyse moléculaire et diagnostic prénatal de la b-thalassémie: à propos de notre expérience en Tunisie centrale Volume 58, numéro 4, Juillet – Août Le terme thalassémie est un terme générique pour désigner un tableau clinique résultant d’une diminution quantitative de la synthèse d’une chaîne de globine. selenium, and copper in 64 children with B-thalassaemia major and 63 age- and zinc, sólénium et cuivre sériques chez 64 enfants atteints de B-thalassemie.

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New Insights for the Healthcare Professional: When both are microcytic, their hemoglobin A2 concentrations are measured. Archived from the original on 3 October Nausea, vomiting, and diarrhea are relatively common with its use.

Blood tests, genetic tests [3]. The beta form of thalassemia is particularly prevalent among Mediterranean peoples, and this geographical association is responsible for its original name.

Thalassemia can coexist with other hemoglobinopathies. Methods in enzymoly, Academic Press, New York, ; Having a single genetic variant for thalassemia may protect against malaria and thus can be an advantage.

Retrieved from ” https: The cost is also significant.

Beta thalassemia – Wikipedia

D ICD – The iron overload related to thalassemia may be treated by chelation therapy with the medications deferoxaminedeferiproneor deferasirox. There is no evidence from randomized controlled trial to support zinc supplementation in thalassemia. The major Mediterranean islands except the Balearics such as SicilySardiniaCorsicaCyprusMalta and Crete are heavily affected in particular.


Current Opinion in Obstetrics and Gynecology.

The thalassemia trait may confer a degree of protection against malaria[54] which is or was prevalent in the regions where the trait is common, thus conferring a selective survival advantage on carriers known as heterozygous advantagethus perpetuating the mutation.

All people with thalassemia are susceptible to health complications that involve the spleen which is often enlarged and frequently removed and gallstones.


The HSCs then have a beta-globin gene added using a lentiviral vector. Human Genet ; Oxford, Blackwell Scientific Publications, 3rd ed.

The decrease in incidence has benefitted those affected with thalassemia, as the demand for blood has decreased, therefore improving the supply of treatment. Family studies can be done to evaluate carrier status and the types of mutations present in other family members.

Thalassemia – Wikipedia

Top of the page – Article Outline. Outline Masquer le plan. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Untreated thalassemia major thalasxemie leads to death, usually by heart failure ; therefore, birth screening is very important. Beta thalassemia Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited.


Multiple thalxssemie transfusions can result in iron overload. American Society of Hematology. Retrieved 7 December It has the benefit of being inexpensive and decent long-term safety. As with about half of all hereditary diseases, [18] an inherited mutation damages the assembly of the messenger-type RNA mRNA that is transcribed from a chromosome.

The primary aim is talassemie bind to and remove iron from the body and a rate equal to the rate of transfusional iron input or greater than iron input.

It represents a potentially toxic iron form due to its high propensity to induce oxygen species and is responsible for cellular damage. In general, poorer populations only have access to limited diagnostic facilities together with blood thalassfmie.

Hemoglobin ; 15 1 et 2: Archived from the original on 25 February In some developing countries, there are virtually no facilities for diagnosis or management of thalassemia.