Thalassemia is an autosomal recessive disease of globin chain formation of haemoglobin molecule. Haemoglobin is a haeme containing protein present in RBCs and helps to carry oxygen towards tissues and carbon dioxide partly from the tissues to the atmosphere through alveoli.
General background –
As explained earlier this is a condition wherein globin chain formation is affected. Haemoglobin contains two alpha and two beta chains in normal individual which is called as HbA. Some other patterns of Haemoglobin are also present in the normal individuals and they are HbA2 and HbF (Foetal Haemoglobin). Two alpha and two delta chains are present in HbA2 and two Gama chain are present in HbF along with two alpha chains.
Haemoglobin electrophoresis is a process by which we can determine the percentage of available Haemoglobin types. Usually HbA should be more than 97.5%, HbA2 should be less than 2% and HbF is present in very minute quantity in adults.
The chromosome 16 and 11 are involved in Alpha and Beta thalassemia respectively. There are 4 genes for Alpha chains and 2 genes for the Beta chains.
If the defect is in alpha chain formation then thalassemia is Alpha type and if Beta chain formation is affected then the thalassemia is of Beta type.
According to the involvement of genes in the pathogenesis the Alpha thalassemia is classified as Asymptomatic, Minor, Haemoglobin H disease and Bart’s disease. In the Asymptomatic Alpha thalassemia type only one out of 4 genes is missing , in Minor thalassemia two genes are missing ,in Haemoglobin - H three genes and in Bart’s disease all the four genes are missing hence the foetus cannot survive.
In Beta thalassemia the clinical conditions are classified as Major thalassemia and Minor thalassemia. In the major both genes are mutant and in minor only one gene is mutant.
General Features –
A patient of thalassemia is complaining of severe weakness, muscle fatigue, dyspnoea on exertion and all the clinical features of anaemia. The bone marrow remains hyperactive.
Lab reports –
All the features of anaemia are observed in the report of CBC. MCV is less than 80 i.e. RBCs are microcytic, RDW i.e. Red Cells distribution width is normal and usually it remains in the range of 11.5 to 14.5 %. RBCs are hypo chromic, the iron levels are normal; RBC count is low i.e. low Haematocrit. Mentzer Index i.e. the ratio of MCV in femtoleter to RBC count in million per cubic millimetre is less than 13 in thalassemia whereas, in Iron deficiency anaemia it is higher than 13. Haemoglobin electrophoresis shows varied percentage of different types of haemoglobin hence should be performed in suspected cases. Bone marrow examination is also useful for clinical practice in the diagnosis of anaemia.
The clinical management is based on symptoms of the individual. Repeated blood transfusion is recommended in the patients of thalassemia major. Hence the chances of iron overload are very high in these patients and they need iron chelation therapy. Though the morphological features shows the features of iron deficiency, use iron supplements should be avoided in thalassemia.
Specific treatment is not recommended in Thalassemia minor patients. However patients should be treated if there are symptoms for which he seeks the medical help. Vitamin C supplements, Folic Acid, Vitamin B-12 are commonly prescribed. Over the age of 6 years splenectomy is recommended. Endocrine correction is done by monitoring different hormones. Immunization against Hepatitis-B is done to avoid associated Liver complications. In few cases even the bone marrow transplantation is recommended however this procedure is very expensive and not convincing results are observed in thalassemia.
Ayurvedic approach of management (General line of treatment)
As per Ayurvedic principles this disease requires a line of management to primarily treat the symptoms. Overall the Dhatubal (physical strength) of the patient has to be maintained. The role of Shukra Dhatu in regeneration and rejuvenation is well elaborated in Ayurvedic Physiology; hence an Ayurvedic physician must consider it in therapeutics. Formulations like Vrishya Vati or Siddha Makardhwaj are used in practice for the same purpose.
The production of Rakta Dhatu is affected hence Prana Vayu circulation is also not at an optimal level. Overall the vital parameters are affected due to the disturbance in Jeevan karma of Rakta Dhatu. Drugs targeting on Raktagni, Raktavaha Srotus and organs associated with it along with drugs nourishing and strengthening to Mamsa Dhatu, Asthi Dhatu and Majja Dhatu are used in clinical practice.
Shodhana or Detoxification in Thalassemia –
As per Ayurvedic pathophysiology in Raktavaha Srotus Liver and Spleen play a very important role. Extra medullary haematopoiesis is noted at these sites. Hence if there is excess haemolysis then jaundice might be seen in these patients and the drugs mentioned in Kamala are required in the management of these patients. Mrudu Virechana i.e. mild laxatives drugs are important to avoid the congestive pathology in these patients. Usually Phala Trikadi Kashay or Triphala containing preparations are preferred for the purpose.
Shaman or Internal medication in Thalassemia –
Ayurvedic classics have recommended many medicated ghee formulations to treat the Rakta Dhatu afflictions or associated morbidities. The formulations like Pancha Gavya Ghrut, Kalyanak Ghrut , Mahatiktak Ghrut , Dadimadi Ghrut are some potential Drugs in thalassemia. Beside these formulations Mandur Bhasma , Suvarna Makshik Bhasma and Abhrak Bhasma also have a success giving effect in thalassemia. It is always important to avoid heavy metals and their formulations to avoid metal depositions in body. Even iron should not be used in its metallic form. Hence Mandur Bhasma is preferred over Loha Bhasma in the management of thalassemia minor patients. With these medicines if the frequency of blood transfusion can be reduced then it is indeed a great help in management of thalassemia.
The regular use of Tulasipatra Swaras i.e Basil leaves juice is recommended to keep the proper oxygenation of the tissues.
Herbs used in Thalassemia –
Single herbs like Ashwagandha, Shatawari, Guduchi, Pimpali, Manjishtha ,Sariva , Bala, Yashtimadhu, Kumari, Maka , Kutaki, Bilva have potential Drugs in the clinical management of thalassemia.
Role of Pranayam or breathing techniques in Thalassemia –
Different types of Pranayam to improve the level of pulmonary perfusion and gaseous diffusion and transport are recommended.
Other recommendations in Thalassemia –
Pitta pacifying dietary regimen is recommended in these patients.
It is always better to restrict the exposure to extreme weather conditions especially Sun exposure.
The strength of the body is maintained through regular Abhyanga witih Bala containing oils like Bala Tailum,Bala Ashwagandhadi Tailum, Bala Guduchyadi Tailum , Ksheerbala Tailum etc.
Rasayan Drugs like Dhatri Rasayan, Chyvanprash and Musali Pak is advisable for the body strength and vitality.
Thus the focus of the management in thalassemia remains on CARE rather than CURE of the patients.