Thalassemia
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This document discusses Thalassemia, a genetic blood disorder. It provides information on different types of Thalassemia and their inheritance patterns. It also outlines the benefits and disadvantages of different treatment options for Thalassemia Major, including regular blood transfusions combined with desferal therapy, which allows patients to experience less severe symptoms and normal growth compared to low transfusion treatments. The document also briefly describes preliminary and specific tests used to diagnose Thalassemia and explains that it is caused by mutations affecting the production of the alpha or beta globin chains.
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![Normal Parents
Normal Children
Father , mother or both having Thalassemia.trait
Trait Normal Trait Trait
Trait Normal Trait Normal Trait T.Major
50% 25% 50% 25%
BLOOD TRANSFUSION
Only B Thalassaemia major will require
regular transfusions. B Thalassaemia Intermedia
may require occasional [ Top Up ]
BETTER CHANCES OF SURVIVAL
1. Blood Transfusion
2. Given Desferal
3. Splenectomy](https://image.slidesharecdn.com/thalassemia-130324004940-phpapp02/85/Thalassemia-1-320.jpg)
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Factors known for raising the risk are:
Family history: As mentioned earlier, thalassemia runs in families. The mutated hemoglobin genes are carried forward from the parents to their children. Therefore, having a family history raises your chance of thalassemia.
Specific ancestry: It is observed, that the blood disorder commonly occurs in African, Asian, Middle Eastern, Greek and Italian ancestry.
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America: 0-5% of the population has a thalassemia trait, up to 40% may be a genetic carrier
Eastern Mediterranean: 0-2% of the population has a thalassemia trait, up to 60% may be a genetic carrier
Europe: 1-2% of the population has a thalassemia trait, up to 12% may be a genetic carrier
Southeast Asia: 1-30% of the population has a thalassemia trait, up to 40% may be a genetic carrier
Sub-Saharan Africa: 0% of the population has a thalassemia trait, up to 50% may be a genetic carrier
Western Pacific: 0% of the population has a thalassemia trait, up to 60% may be a genetic carrier
Beta thalassaemia
Americas: 0-3% of population is affected by a gene mutation
Eastern Mediterranean: 2-18% of population is affected a gene mutation
Europe: 0-19% of population is affected a gene mutation
Southeast Asia: 0-11% of population is affected a gene mutation
Sub-Saharan Africa: 0-12% of population is affected a gene mutation
Western Pacific: 0-13% of population is affected a gene mutation
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Thalassemia
- 1. Normal Parents Normal Children Father , mother or both having Thalassemia.trait Trait Normal Trait Trait Trait Normal Trait Normal Trait T.Major 50% 25% 50% 25% BLOOD TRANSFUSION Only B Thalassaemia major will require regular transfusions. B Thalassaemia Intermedia may require occasional [ Top Up ] BETTER CHANCES OF SURVIVAL 1. Blood Transfusion 2. Given Desferal 3. Splenectomy
- 2. Thalassaemia Benefits; 1. It corrects the Anemia and tissues get normal amount of oxygen. This allows patient to grow normally. 2. It lets bone marrow to rest so that bones can develop normally and strong. Patients face will look normal too. 3. It slows down or prevents any increase in the size of spleen and hypersplenism as well. Thalassaemia Disadvantages; 1. Patients on High Transfusions are at greater risk of being infected by unknown viruses that may be found in the blood as compared to Low Transfusions cases. 2. If desferal is not used, there will be Iron-overload in some important organs. Benefits Of Treatment With High Transfusion And Desferal High transfusion maintaining Hb at 12-13gm/dL Low transfusion raising Hb from 6-10gm/dl. A patient on high transfusions together with desferal will exhibit less physical features of Thalassaemia than those on low transfusion.
- 3. 1. Preliminary Tests A full blood picture may predict the chances of Thalasseamia with 60% - 70% accuracy.However it is NOT THE TEST for Thalassaemia. 2. Specific Tests a. Haemaglobin electrophoresis. b. Alkaline denaturation test for HbF. c. Chromatography for HbA2 Thalassaemia Together with haemoglobinopathies, these are hypochromic, microcytic anaemias. Thalassaemia is a genetic disorder which causes a decreased rate of synthesis of either 1 or 2 globin chains. Caused by mutations in intergene controlling sites that impairs or prevents gene expression, or by structural gene deletions. No structurally abnormal haemoglobin ( Hb) is found. Normally synthesized in the same ratios. Changes in the ratio produces an excess of a or b chains. a thal distribution is worldwide, however especially found around the Meditterranean. b-thal is especially distributed around South East Asia and New Guinea. 1. a- Thalassaemia ; a-chains affected four genes involved ( 2 a from each parent ) abnormality associated with a genes because of deletions
- 4. 2. b- Thassaemia ; b-chains two genes involved abnormality associated with B-genes because of mutations affecting and decreasing the production of mRNA.