Author: Dr. Vikram Chauhan

Abstract

Genetic diseases are the ones that are caused by abnormalities in the genome. This usually results from the gene mutation that could be single gene mutation (monogenic) or multiple gene mutations (polygenic). Hereditary diseases can be due to abnormality of the chromosome. When these genetic disorders are inherited from one or both the parents then the conditions are considered as hereditary diseases. There are around six thousand known genetic disorders. Hereditary diseases run in the family. One of such hereditary diseases is hereditary spherocytosis. In the text below, we shall be discussing the same and we shall also hw this is treated in the contemporary medicinal system and we shall look forward to how the condition can be managed with the Indian traditional medicinal system of Ayurveda. Let’s get started!

Introduction

Hereditary spherocytosis is an autosomal dominant disorder in which the principal abnormality relates to a deficiency of a red cell membrane protein named spectrin. Around twenty-five percent of patients have no family history. The erythrocyte envelope is abnormally permeable and sodium pumps are overworked. The erythrocytes lose their normal biconcave shape and become sphere shape and are more prone to osmotic lysis. These spherocytes are exclusively destroyed by the spleen. The severity is variable even within the family. Hemolysis mainly occurs extravascularly. In Ayurveda, the correlation of hereditary spherocytosis can be established with rakta vaha srotas dushti and beej dushti. We’ll see about it more further in the article. Let’s have a look at the causes, clinical features, investigation and management in the medical sciences.

Causes of Hereditary Spherocytosis

As the word hereditary implies, it is a disease that a person inherits from one’s biological parents. In Spherocytosis parents may pass on mutations in five different genes. Around seventy-five percent of people suffering from hereditary spherocytosis inherit the condition in an autosomal dominant way. It implies that it just takes one copy of the concerned gene to cause some sort of hereditary spherocytosis. Children born to a parent who has a mutated gene have a half possibility of inheriting the changed/mutated gene.

Others acquire/inherit the condition as they receive one copy of mutated genes from each parent. This is an autosomal recessive way. For this situation, parents are carriers yet typically don’t have any signs and symptoms of hereditary spherocytosis.

When carriers of hereditary spherocytosis have children. Then every child has an alternate possibility of developing hereditary spherocytosis. In particular, they have 25 percent possibility of abstaining from being a carrier and having hereditary spherocytosis, fifty percent chance of being a carrier but not developing the condition and a twenty-five percent chance of developing the hereditary spherocytosis.

Signs and Symptoms of Hereditary Spherocytosis

• Lassitude
• Fatigue
• Breathlessness on exertion
• Palpitations
• Throbbing in the head or ears
• Dizziness
• Tinnitus
• Dimness of vision
• Headache
• Paresthesia in toes and fingers
• Angina
• Insomnia
• Pallor of mucous membrane, palms of hands, conjunctivae and skin
• Oedema
• Cardiac dilatation
• Tachycardia
• Systolic flow murmurs
• Episodic jaundice may be seen
• Spleen is often but not always enlarged
• Liability of developing pigmented gallstones
• Cholecystitis
• Ulcers on the leg may appear sometimes

Investigations

• Coombs test – negative
• Acidified Glycerol Lysis Test – positive
• Osmotic Fragility Test – positive
• Complete blood count
• Liver Function Tests
• Peripheral blood smear – shows spherocytes on microscope
• Eosin-5 maleimide Binding Test

Ultrasound is used to check the dimensions or size of spleen, gallbladder and liver.

Management

There is no cure for reversing the genomic derangements that lead to hereditary spherocytosis.

Folic acid supplements are given as symptomatic management.

Typical management available includes following

Splenectomy

Removing the spleen surgically stops the extravascular hemolysis but it makes the person immune compromised as the spleen has various immune functions.

Partial splenectomy

Instead of the entire organ, a part or a segment of the organ is surgically removed. It lowers the extravascular hemolysis that compensates for the level of homeostasis of the patient.

Splenic ablation

It is an interventional radiology and non-operative method that uses radiological techniques to cauterise or coil vasculature within the spleen.

Experimental management

Bone marrow transplant – A bone marrow transplant replacing the bone marrow with the bone marrow of a person who is free from spherocytosis.

Ayurvedic Aspect and Management of Hereditary Spherocytosis

Ayurveda is an ancient Indian medicinal system that has been serving people for ages. And the concept of Ayurveda still continues. Ayurveda is such a positive science that deals with acute to chronic conditions. Its objectives make it unique as it focuses on the alleviation of the ailments of the diseased person and keeping up the health status of the healthy person. Ayurveda is based on the main three doshas though there are various things that make Ayurveda as vast as the sea. Ayurveda focuses on lifestyle and food management in literal terms. According to Ayurveda, the food a person eats and deeds a person does decide the health status of that person.

Hereditary Spherocytosis is an inherited disorder that one inherits from one or both parents. This occurs due to abnormal changes in the genome which usually result from the mutation of gene/s. This can be correlated in Ayurveda with beej dushti which results in the abnormal functioning of the body part anatomically and physiologically and gives rise to a new pathology. Being a raktaj dosha, the pittaja component is thus involved in the pathology of the condition.
Genomics can be correlated with prakriti of a person that cannot be changed but the symptoms that are caused by the altered genes can be well managed. If prakriti of a person is pittaja then he is more prone to develop pittaja disorders. Abnormal genes likewise result in the symptoms of a disease according to the mutated gene. The management thus depends on alleviation of the symptoms that is caused by the genomics.

The vitiated component of the body in hereditary spherocytosis is erythrocytes, the red blood cells. So the main focus of the management is on preventing anaemia with the production of red blood cells and alleviating other associated symptoms of the conditions.

Some medicines that are effective in hereditary spherocytosis include Gandhak Rasayan, Mahamanjisthadi kwath, Khadirasrisht, Khadiradi vati, Lohasav, Punarnava Mandur, Dhatri loha, Ashwagandhaghan vati and many others.

Herbal Remedies of Planet Ayurveda for Hereditary Spherocytosis

Planet Ayurveda is a ISO 9001:2015, USA-FDA, GMP certified ayurvedic company. Planet Ayurveda looks forward to spreading the wise words and knowledge of Ayurveda around the globe. Planet Ayurveda produces the product on the lines of various ayurvedic texts and ayurvedic pharmacopoeia. The products are available in different forms and can be consumed according to ‘the patient’s comfort. Furthermore, the products are chemical and preservatives free. Planet Ayurveda does not use any sweet enhancers and degraded herbs for the formulations. All the products are effective and pure. The products are halal certified and gluten free. Planet Ayurveda extends its products that are effective in the management of hereditary spherocytosis.

Given below are some of the products that help in managing Hereditary Spherocytosis

1. PUNARNAVA MANDUR
2. HEMO PLAN SYRUP
3. GANDHAK RASAYAN
4. GREEN ESSENTIALS
5. YASTHIMADHU GHANVATI
6. DRAKSHASAV
7. ASHWAGANDHAGHAN VATI

Product Description

1. PUNARNAVA MANDUR

Punarnava Mandur is classical ayurvedic medicine used to manage a number of haematological diseases. Punarnava Mandur contains punarnava (Boerhavia diffusa), shunthi (Zingiber officinale), pippali (Piper longum), maricha (Piper nigrum), mandoor bhasma (Ferric oxide calx), haridra (Curcuma longa) etc. Punarnava Mandur helps in production of healthy blood cells and prevents the unwanted changes in the already persisting blood cells. Punarnava is therefore a medicine of choice in anemic conditions. Punarnava Mandur cleanses the blood thus removing the impurities from the impure blood. Furthermore, Punarnava Mandur helps in preventing the bleeding. In this way, Punarnava Mandur is a perfect remedy to attain the optimum blood cell levels that are damaged by Hereditary Spherocytosis.

Dosage: Two tablets twice a day after meals.

2. HEMO PLAN SYRUP

Hemo Plan Syrup is a product of Planet Ayurveda which has been prepared for increasing the number of blood cells that are not up to an optimum level due to any of the reasons. Hemo Plan syrup is composed of the herbs such as manjistha (Rubia cordifolia), shatavari (Asparagus racemosus), gorakhmundi (Sphaeranthus indicus), draksha (Vitis vinifera) and various others. All these herbs work on the blood cells and thus manage all the diseases related to blood cells. The herb purifies the blood and promotes the healthy production of blood cells. It removes toxins from the blood. In anaemic conditions, Hemo Plan Syrup promotes the production of red blood cells. In case of Hereditary Spherocytosis, the syrup optimises the blood cell levels with the healthy and normal shape. Hemo Plan Syrup, thus, an important remedy by Planet Ayurveda for the management of Hereditary Spherocytosis.

Dosage: 10 ml twice a day after meals.

3. GANDHAK RASAYAN

Gandhak Rasayan is a classical ayurvedic proprietary medicine used to manage various blood related and skin related disorders. Gandhak Rasayan is composed of pure sulphur. Gandhak Rasayan is known to be of great benefit in the blood disorders as it helps in the production of healthy blood cells. Gandhak is known for its rejuvenating properties. Gandhak heals damaged blood cells. Furthermore, Gandhak Rasayan alleviates the other symptoms associated with hereditary spherocytosis. Hence with the healing properties of Gandhak Rasayan, the above mentioned condition is well managed.

Dosage: Two tablets twice a day after meals.

4. GREEN ESSENTIALS

Green Essentials is a product of Planet Ayurveda which is composed of wheatgrass (Triticum aestivum). Wheatgrass is known for its various beneficial properties for health. It promotes overall wellness of the body and it works wonderfully in the blood disorders. It promotes the proper and healthy development of the new blood cells. Furthermore, it purifies the blood and removes toxins out of it. It contains a certain vitamin K, C, E etc. Its constituents help in bleeding disorders as these are helpful in clotting the blood. With these properties Green Essentials are of great benefit in the person suffering from hereditary spherocytosis.

Dosage: One capsule twice a day after meals.

5. YASTHIMADHU GHAN VATI

Yasthimadhu GhanVati is a classical ayurvedic medicine composed of the herb yashtimadhu (Glycyrrhiza glabra). Yashtimadhu is considered as medhya rasayan as mentioned in the Charak Samhita. Rasayan is a herb or formulation which benefits the overall body, improves immunity, boosts stamina, benefits skin and promotes longevity. Yashthimadhu in Hereditary Spherocytosis helps in coping up with the symptoms of the same. Yasthimadhu stops the destruction of red blood cells and prevents bleeding and jaundice. Yashimadhu alleviates the other manifestations on the other body parts expressed by Hereditary Spherocytosis.

Dosage: One tablet twice a day after meals.

6. DRAKSHASAV

Drakshasav is a classical ayurvedic proprietary medicine that is used to boost energy life. Drakshasav contains a lot of herbs such as draksha (Vitis vinifera), ashwagandha (Withania somnifera), ajmoda (Carum roxburghianum), shunthi (Zingiber officinale), patha (Cissampelos pareira) and others. All these herbs provide strength to the body and fulfil the energy requirements that have been lost due to the severe breakdown of red blood cells and have resulted in anaemia. Therefore, Drakshasav helps in increasing the blood cells and supports the functioning of healthy hematopoiesis. Thus, it helps in Hereditary Spherocytosis extensively.

Dosage: 10 ml twice a day after meals.

7. ASHWAGANDHAGHAN VATI

Ashwagandhaghan vati is a classical ayurvedic proprietary medicine that is used in severe weakness and various other health disorders. Ashwagandhaghan vati is filled with the wonderful properties of ashwagandha (Withania somnifera). Ashwagandha acts as rasayan and rejuvenates the body. Ashwagandha purifies the blood and removes toxins out of the bloodstream. Furthermore, Ashwagandhaghan vati helps in the healthy and normal shaped production of red blood cells. With rasayanic properties of Ashwagandha, Ashwagandhaghan vati does an impressive job in the management of Hereditary Spherocytosis.

Dosage: Two tablets twice a day after meals.

Conclusion

Hereditary diseases are what a person inherits from the parent. There are many inherited conditions that hamper the normal life of a healthy being. Hereditary Spherocytosis is such a condition in which the production of the sphere shaped red blood cells occurs instead of healthy disc shaped. This sphere shape of red blood cells results in easy breakdown of the cells which results in severe anaemia and jaundice as well. This results in a number of symptoms that we have discussed above. The management of the condition in the modern medicine system is purely surgical and the bone marrow transplant is highly dubious and expensive. Whereas Ayurvedic treatment is purely non-invasive and based on the herbs. As we discussed above the condition can be well managed with Ayurvedic herbs as they fight the symptoms of hereditary spherocytosis such as anaemia and jaundice and also promotes the production of healthy red blood cells. The products above of Planet Ayurveda are pure and much effective in the management of Hereditary Spherocytosis.