Sickle Cell In India

This post is a contribution from Hari Prabhakar of the Sickle Cell Disease Center, at Gudalur Adivasi Hospital, India.


Sickle Cell Disease (SCD) is truly a global genetic disease, and there has often been a misconception that SCD is found only among those of African/African-American descent. In order to successfully manage the disease internationally and formulate global strategies, it is important that we understand the different types of challenges and lessons learned from sickle cell management from both the patient and provider perspective

As such, I would like to share with you our experiences in managing sickle cell disease amongst an indigenous population in South India, the lessons learned, and how we can use these lessons to improve SCD management in the United States.

Each year in India, 495,000 infants have congenital malformations, 390,000 have glucose-6 phosphorylase enzyme deficiency, 21,400 have Downs Syndrome, amongst the Adivasis population ((indigenous populations in India are also called Adivasis) 9,000 infants are born with Beta-thalassemia, and 5,200 have sickle-cell anemia. Due to inadequate diagnostic, management, and rehabilitation facilities, and lack of comprehensive knowledge/acceptance of the disease, the burden of these disorders among the Indian population is far greater than Western countries, and it is particularly pronounced among indigenous (Adivaisis) population in South India.

Adivasis, who are comparable to the Native Americans of the US, number around 10% of India’s population (around 100 million people!). They have been traced back to 3000 BC, and have genetic similarities to Australian aborigines and African tribes. SCD has the highest prevalence among this population, with up to 1 in 5 people being a carrier, and up to 1 in 20 having the disease.

As such, millions in India suffer and succumb to the disease, with little money, knowledge of the disease, or access to healthcare facilities to seek care. Due to a combination of social neglect, inadequate healthcare infrastructure and research, and lack of grassroots implementation and national policy, there are almost no comprehensive sickle cell programs in India, where it is needed most.

Much like in the United States, it is of utmost importance that those in India suffering from the disease are provided a voice and capability to seek care from one of the most despicable and significant genetic diseases on the planet.
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Resources in India

Calling All People With SC Disease

Calling all people with Sickle Cell Disease to participate in a research study.

The study is sponsored by Ms. Phyllis Bazen, MSN, FNP-C, a Doctoral Candidate at the University of Rochester School of Nursing. Ms Bazen is the Study Coordinator.

The purpose of the study is to explore the most common stressors that adults with SCD cope with and to explore the effects that these stressors have on mood and/or quality of life perceptions.


People with Sickle Cell Disease have many things that bring stress; pain, depression, hopelessness, etc. etc. etc. We have to live on despite these stressors and try to have a meaningful, productive lives...anyway.

The best way to contact Ms. Bazen is the web site contact page, her cell phone, email, or 1-800-464-8668 (in US) See card below for information.

If you decide to participate in this study, you will be speaking with Ms. Bazen who conducts a one-on-one private (confidential) phone interview. In this interview, Ms. Bazen will ask a series of questions related to living with Sickle Cell Disease and related stresses.

The outcome of this study is to gather data related to the stress that Sickle Cell patients endure and find ways to better treat them (us).

Check out the web site at http://www.scdstresstudy.com/

We can all have our voice heard on this one.




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Sickle Cell Disease Around The World

I was researching Sickle Cell Disease around the world…I’m just a curious soul…. and what I kept finding (in different reports) was the same quote: “The origin of Sickle Cell Disease is Africa and primarily affects people of African decent.” I even read one (racist) report that said: “The African footprint in the world is Sickle Cell Disease.” I was baffled. I’ve heard of cases of Sickle Cell Disease in India, Saudi Arabia, Asia, United States, Spain, Italy, Mexico and Africa.

My belief is that Sickle Cell Disease is a human condition, not just an African condition. I got busy researching to see if my belief was correct. What I found was related to genes and human diseases located on the World Health Organization’s (WHO) website.

The source of Sickle Cell Disease, I found, is not the African footprint, but DNA (DEOXYRIBONUCLEIC ACID). DNA is the blueprint of life and has the instructions for making each and every one of us. According to the WHO report, “Pure genetic diseases are caused by a single error in a single gene in the human DNA.”

The report goes on to say, Sickle Cell Disease is one of many “monogenic diseases” resulting from modifications (errors) in a single gene that occurs in all cells of the body. These monogenic diseases affect millions of people worldwide, and scientists estimate that over 10,000 human diseases are known to be monogenic.

Some monogenic diseases are:

Thalassaemia, Sickle cell anemia, Haemophilia, Cystic Fibrosis, Tay sachs disease, Fragile X syndrome (cause of retardation), and Huntington's disease.

The rate of all single gene diseases at birth is approximately 10/1000. This means for every 10,000 people born, 10 of them will have a monogenic disease.

So, is my belief correct that Sickle Cell Disease is a human condition? Yes. Like any of the other monogenic disease, Sickle Cell Disease is a boo-boo of the DNA….now let’s try to get it fixed!

http://www.who.int/genomics/public/geneticdiseases/en/index2.html#SCA

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Why Do We Need Water?

In people with Sickle Cell Disease their red blood cells are dehydrated (they are thirsty for water). These cells are thirsty each and every day. Just imagine living in the Sahara desert and there is nothing but sand. Eventually, you will die of thirst, and you will die quickly. Well, that’s what happens to our red blood cells. They need water….everyday.

Dehydration in red blood cells, (according to American Society of Hematology) is due to increased loss of potassium, chloride, and water. (Yes, momma says “eat those bananas for their potassium too!!!”) By keeping hydration (water) in red blood cells they can survive longer. With longer surviving red blood cells in our body we will have more red blood cells (sickled or not) available for our beautiful bodies to use.

There has been research in trying to hydrate red blood cells with medication (US Institute of Health clinical trial), but this research has not fully been successful.
http://clinicaltrials.gov/ct2/results?term=ica+17043&cond= %22Anemia%2C+Hemolytic%22)

There is hope, however, that we can do our part by DRINKING MORE WATER, and we can wait for researchers to do their part. This is one more bit of information that our doctors don’t tell us. Why we need water? Now, I’m thirsty!

Retinal Detachment and Sickle Cell Disease

A complication of Sickle Cell Disease is a condition of the eye called Retinopathy. This condition occurs when the blood vessels in the retina become blocked, grow haphazardly or become leaky, and extra blood is trapped within the space between the eye lens and the internal membrane of the retina. This can damage the retina and cause retinal detachment.

Retinal detachment is a medical emergency. The detachment of the retina is painless, however, if not treated quickly, can cause permanent, partial, or total vision loss. Symptoms include: sudden appearance or increase in the number of “floaters,” (which are shapes that float in the eye and are seen in the field of vision), brief flashes of light in the eye, loss of the eye’s central or peripheral field of vision, a curtain appears to fall over part of the visual field, and sudden changes or blurring of vision.

To see, light must be able to pass through to the retina without anything getting in its way. You may not be aware of changes to the retina until your vision has been impaired. Distinguishing if blood is floating between the internal membrane and the retina's nerve fiber layer is not always possible, and this is why we must have our eyes screened every year.

My daughter suffers from this Sickle Cell complication and the suffering she endures is heartbreaking. Cataract surgery (at 14 years old), and vision loss is something she has tolerated. I watch her battle for healthy eyes with tears in my own.

The branch of medicine that is concerned with the diagnosis and treatment of eye diseases and conditions is ophthalmology.

Have you seen your ophthalmologist lately?