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.

Author: Mikall Golmaran
Country: Indonesia
Language: English (Spanish)
Genre: Software
Published (Last): 19 April 2013
Pages: 21
PDF File Size: 19.99 Mb
ePub File Size: 20.15 Mb
ISBN: 525-7-88405-835-3
Downloads: 77811
Price: Free* [*Free Regsitration Required]
Uploader: Tebei

Family studies can be done to evaluate carrier status and the types of mutations present in other family members.

The different surgical techniques are the open and laparoscopic method. Human Genet ; American Society of Hematology. Thalazsemie body’s inability to construct new beta-chains leads to the underproduction of HbA.

Views Read Edit View history. Bone marrow transplantation is the only cure and is indicated for patients with severe thalassemia major. There is no evidence from randomized controlled trial to support zinc supplementation in thalassemia. Very few pregnancies are reported among such patients. The medical thalasswmie of splenectomies have been declining in recent years due to decreased prevalence of hypersplenism in adequately transfused patients.

Deferiprone is a medication that is given by thalaswemie. Textbook of Inpatient Management. Hereditary spherocytosis Minkowski—Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis.


Beta thalassemia – Wikipedia

Kochar’s Clinical Medicine for Students. Detection and localisation of single base changes by denaturing gradient gel electrephoresis.

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. Untreated thalassemia major eventually leads to death, usually by heart failure ; therefore, birth screening is very important.

Beta thalassemia

In general, poorer populations only have access to limited diagnostic facilities together with blood transfusions. All people with thalassemia are susceptible to health complications that involve the spleen which is often enlarged and frequently removed and gallstones. The word thalassemia was first used in While many of those thakassemie minor status do not require transfusion therapy, they still risk iron overload, particularly in the liver.

Patients may require episodic blood transfusions.

Nature ; These tests include complete blood count ; hemoglobin electrophoresis ; serum transferrinferritintotal iron-binding capacity ; urine urobilin and urobilogen; peripheral blood smearwhich may show codocytesor target cells; [26] hematocrit ; and serum bilirubin.

Diseases of red blood cells D50—69,74— Top of the page – Article Outline. Genetic counseling is recommended and prenatal h may be offered.

Patients are often monitored without treatment. Contact Help Who are we? Patients with hypersplenism are inclined to have a lower amount of healthy blood cells in their body than normal and reveal symptoms of anemia. Ghalassemie on your family history, if your parents or grandparents suffered from beta thalassemia there is a high probability of the mutated gene being inherited by an offspring.


Thalassemias are genetic disorders inherited from a person’s parents. The situation of both alleles determines the clinical picture:. Thalassemia can be diagnosed via a complete blood counthemoglobin electrophoresis, and DNA testing.

Thalassemia – Wikipedia

In some developing countries, there are virtually no facilities for diagnosis or management of thalassemia. As per the Thaoassemie relating to information storage thalsasemie personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. Repeated blood transfusions can lead to build-up of iron overloadultimately resulting in iron toxicity. The Journal of Pathology. Views Read Edit View history. Enzymatic amplification of betaglobin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited. Wikipedia thslassemie needing page number citations from May Infobox medical condition new Pages using infobox medical condition with unknown parameters All articles with unsourced statements Articles with unsourced statements from August Articles with unsourced statements from May Peripheral blood film from a person with Delta Beta thalassemia.