single gene disorder
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2020 ◽  
Vol 8 (8) ◽  
Author(s):  
Alice Traversa ◽  
Enrica Marchionni ◽  
Agnese Giovannetti ◽  
Maria L. Genovesi ◽  
Noemi Panzironi ◽  
...  




Author(s):  
Dr. Avinash Karambhe ◽  
Dr.S.K. Danga ◽  
Dr.Chetan Gulhane

Thalassemia syndromes are most common single gene disorder in the world and represent a major health burden worldwide. It is a heterogeneous disorder recessively inherited resulting from various mutations of the genes which code for globin chains of Hb leading to reduced or absent synthesis of globin chains. In Ayurveda, Aacharya Charaka described Beeja Dushti Janya Vikaara. He explained that specific Avayava would be Vikrita, if Doshas vitiate specific Beeja or Beejabhaaga. Scientists are working to remove excess iron in order to prevent or delay iron overload which is achieved by prolonging blood transfusion interval and searching effective, orally administrable, economical iron chelators to combat the Thalassemia. In Ayurveda Raktashodhana, Raktaprasaadana, Shonitasthaapana, Rasayana, Balya and Varnya properties decrease the rapid destruction of RBCs and thus prolonging the Life span of RBCs which increases the interval of blood transfusion. All these factors increase the expectancy of good life of Thalassemic patients.





2018 ◽  
Vol 5 (2) ◽  
pp. 33
Author(s):  
Retno Dwi Wulandari

Hemoglobinopathy includes structural abnormalities and haemoglobin synthesis disorders (thalassemia), is a single gene disorder that was originally found in malaria endemic areas but nowadays can be found all over the world. The birth rate of homozygous or compound heterozygous hemoglobinopathies, including alpha and beta thalassemia is less than 2.4 per 1000 births. Sickle cell anemia is the most prevalent compared to beta major and HbE-beta thalassemia. In Southeast Asia with more than 600 million people, abnormalities in hemoglobin including thalassaemia, HbE and HbCS are the most common and highly prevalent genetic disorders. Indonesia, has several areas that are endemic to malaria, there are many cases of abnormalities in Hb including thalassemia. If the percentage of carriers is associated with the birth rate and the number of Indonesian population and based on the study, it is estimated that the number of thalassemia patients born each year around 2500 children. As the case of thalassemia is increasing from year to year, it is necessary that prevention starts with screening in individuals who have relatives known as a carrier or thalassemia patient. 



2017 ◽  
Vol 107 (3) ◽  
pp. e24
Author(s):  
T.G. Nazem ◽  
J. Rodriguez-Purata ◽  
L. Sekhon ◽  
C. Hernandez-Nieto ◽  
J.A. Lee ◽  
...  


2016 ◽  
Vol 12 ◽  
pp. 655-665 ◽  
Author(s):  
Joe Bathelt ◽  
Duncan Astle ◽  
Jessica Barnes ◽  
F. Lucy Raymond ◽  
Kate Baker


2014 ◽  
Vol 102 (3) ◽  
pp. e183 ◽  
Author(s):  
X. Tao ◽  
C. Jalas ◽  
A. Fedick ◽  
C. Bohrer ◽  
H. Garnsey ◽  
...  


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