Thalassemia and Sickle Cell Disease

Picture this, you have Sickle Cell Disease (a disease of the red blood cell) and you marry a man who is diagnosed (at age 44) with Beta Thalassemia (also a disease of the red blood cell). Now you think to yourself; why didn’t this man know he had a blood disease?

Often people who have Thalassemia don’t know they have it. Sometimes they’re told, “You’re anemic,” and that’s all they’re told.

Thalassemia is similar to Sickle Cell Disease. It is also a genetic defect of the hemoglobin within the red blood cell. Thalassemia, however, is the defect in the number of hemoglobin made in the blood, where Sickle Cell is a defect of the hemoglobin (sickle shape). Either or both of these conditions cause anemia. Some people may have both of these conditions at the same time.

This is where my utter shock comes in. My husband was told by his parents that he was anemic, but at 44 he was officially diagnosed with Beta Thalassemia. My husband is African American and the doctor who diagnosed him is Chinese. The doctor informed him that they have “the same type of Thalassemia.”

Are you getting this? A Chinese doctor and an African American man have the same blood disorder.

There are two issues that come to mind when I remember this story. Firstly, this is another example of my main argument that blood disorders are diseases of humans, not of one race or another. And, secondly, I see the need for better testing/education practices. People should know what their health limitations are, and in result, understand the impact on them having children.

People living with Thalassemia suffer just like people living with Sickle Cell Disease. Just imagine a child of ours having Beta Thalassemia AND Sickle Cell Disease. Luckily, we do not have any children, and thank God I didn’t have to find out what that would be like.

Get informed.
Get tested.

Learn more about Thalassemia at:
http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_WhatIs.html
http://www.nlm.nih.gov/medlineplus/thalassemia.html
http://sickle.bwh.harvard.edu/menu_thal.html
http://www.cooleysanemia.org/updates/pdf/Beta_Thalassemia.pdf

Patient Centered Care

I was recently sent an email where I was asked my opinion regarding sickle cell management in the US and abroad, as it relates to improving care for sickle cell disease. The question was posed by suggesting more of a cultural/social model of care rather than a medical one.

I am just a patient with Sickle Cell Disease, and an advocate for people living with the disease. I am not a medical professional, I am not an expert, nor do I profess to know what a “medical model” is verses a “cultural/social” one. All I know is my experience with having Sickle Cell Disease.

As a child, I received treatment by medical professionals within my “cultural” community and the care I received was gentle, compassionate and well trained. It was not until I grew up, began to travel and moved to different communities. More than once I’ve been told by uninformed medical professionals, “What do you have? Sickle What?”

I was disgusted when doctors would tell me, “Oh, you have Sickle Cell, only black people get that disease.” Or, doctors would say, “Oh, we don’t get many black patients here, so we don’t see cases of Sickle Cell.” This calls for more training of medical professionals.

Just for the record, my niece looks white. She is ¾ Anglo & ¼ African American. Because we have a family history of Sickle Cell, she asked her doctor to perform an electrophoresis test to see if she was a carrier for Sickle Cell Disease. He told her, “You’re white, you don’t have that disease.” She insisted, because of her family history (her mother has it). Low and behold, was tested and found to have the Sickle Cell trait. So much for “you’re white, you don’t have THAT disease.” Again, this calls for more training of care providers.

For this very reason, I believe Sickle Cell care should be approached in a patient centered model; (as a disease of humans), not as cultural model (a disease of one racial group). Sickle Cell Disease is creeping silently into all populations, all races (because of mixing) and all cultures. Now, that’s my opinion.

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Altitude Sickness

When you go to the ocean the altitude level is equal to zero (0). When you travel up a mountain the altitude level increases and the air pressure decreases. At places like the Grand Canyon the altitude goes up to over 6,000 feet elevation, and in the Rocky Mountains of Colorado it can peak to over 14,000 feet elevation. As the elevation increases, the altitude is higher and the air pressure is lower. The lower the air pressure, the lower the number of oxygen molecules available to breathe. This is also known as thin air.

For people with Sickle Cell Disease, less oxygen means SICKNESS.

My altitude sickness symptoms begin around 3,000 feet. It starts with a headache, feeling tired, and dizziness. If I don’t get out of the mountains, then all of these symptoms get worse. At 4,000 – 5,000 feet, I begin to get confused and agitated. I have shortness of breath, my spleen, hands and feet begin to swell, and my head aches with no relief. At 6,000 feet, I descend into needing hospitalization. I throw-up, more headaches, dizziness, lips and palms turn white, and my body slowly collapses into a full Sickle Cell crisis.

How do I know so much? I found out about altitude sickness by accident. After taking a few vacations to the Grand Canyon and Utah I experienced altitude sickness first hand, the hard way. I travelled to these high places, got sick, and learned my lesson. I discovered that I can not go higher than 4,400 feet elevation EVER (without an oxygen tank). In winter, because oxygen is thinner by nature, I can not go above 3,000 feet elevation.

People with Sickle Cell disease have physical limitations, as well as geographic limitations. I know that I can’t visit the Swiss Alps, unless I have an oxygen tank strapped to my back and a mask flowing cool, clean oxygen into my lungs. That's ok with me. I am informed about my limitations and I can accept them. Information is power.

Now take a minute to inhale, now exhale. Enjoy each and every breath you have because it's very precious.

Sickle Cell In India – Part 3

Some people have asked why I posted two previous blogs from a health-care worker in India?

Well, in my opinion, Sickle Cell Disease and Thalassaemia are global problems that are growing. Ignorance and avoidance have limited the recognition that these disorders have a true impact on society. With global immigration increasing, we have to look at the global impact these diseases have on children, healthcare, healthcare cost, and education worldwide.



Currently, there are American voices crying out for people suffering with these diseases, and they are getting things done in America. Thank God. There are no global voices, however, telling the worldwide story of pain, suffering, and health-care limitations related to these two diseases.

As Sickle Cell Disease and Thalassaemia are silently transferred from one generation to another, all voices are important. Hari Prabhakar, from the Sickle Cell Disease Center at Gudalur Adivasi Hospital in India offers his voice, and I gratefully listen.

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Working at the Sickle Cell Center at Gudalur Adivasi Hospital over the past 5 years has taught us a wide variety of things from both a patient and provider perspective.

Existing literature and health authorities continually stress the importance of cultural sensitivity and community consensus as a means of developing an effective healthcare management system. We have certainly found this to be true, but still face challenges in the implementation of effective healthcare programs and must overcome obstacles such as:

Providing awareness of the disease in the Adivasi population - This is extremely difficult when dealing with a population with a strong and widespread belief system. We use members from the Adivasi community as key health educators (in the villages) to help in gaining acceptance and support for the program. However, a lot more needs to be done regarding genetic counseling managed internally and that does not offend Adivasi group’s beliefs.

Confidentiality of test results - Given that awareness of the disease and its causes is still unfamiliar, there exists a fair amount of shame when an individual is labeled with the disease. It is interpreted that a curse is upon them. Cards are given out to document test results of individuals and are coded to be interpreted only by healthcare providers and patients. Explaining blood test results is also the responsibility of an Adivasi health worker, who we feel can best explain the disease to the patient and instruct them on the appropriate course of action.

Getting medications - Medications like Hydroxyurea (a rather expensive cancer drug used for the treatment of SCD) is hard to get in developed countries where there are areas of geographical isolation. Transportation is too difficult or the patients are migrant workers with little time to take care of themselves. We have tried to stock supplies of critical medications like Hydroxyurea in area Centers throughout the Gudalur valley, where patients can also get their blood tests taken. And, a Sickle Cell Disability Fund is in place to help cover patient transportation costs and make up for lost time in an already unsteady employment situation.

Funding is always a major problem - With the prospects of offering “free” treatment to Adivasi patients and inpatient treatment for complications, we pursue public-private partnerships, private donations/grants, and cross-subsidize from non-Adivasi patients to ensure equity and access in services. Community-based insurance for SCD is also a possibility in order to ensure long-term sustainability and empower patients to become an active part of the financing process.

Researching and developing cheaper more sustainable medicines - In a resource-strained environment where other basic public health needs are minimal, it raises to question the use of Hydroxyurea, the expensive tertiary-care cancer drug. As a result, we have team working to develop a plant-based anti-sickling agent that may be cheaper than Hydroxyrea and more sustainable to produce. In Nigeria, for example, the plant-based drug, Ciklavit, has been shown to have positive results, and we hope that have something similar which could be used locally and internationally.

So, what can we learn for use in the United States?

Regardless of whether we are dealing with a rural village or sprawling metropolis, developing skills of health workers to serve as liaisons to the community is important in gaining support and acceptance. A health service with little confidence from the public will ultimately fail.

There certainly needs to be a push for greater training in SCD among health workers, many of whom could be chosen from the local community to conduct education programs, promote counseling, etc… Complete coverage of the SCD population in the US should be done in tandem with local communities.

Most importantly, however, listening to patients and determining their needs, capabilities, and limitation will play a crucial role in expanding the role of sickle cell programs in the US into a wide-ranging program rather than top-down vertical program.
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( HARI……. Thanks for your contributions to this blog and your suggestions.)

Resources in India

Sickle Cell Sabbath

There is a lot of money to be made by non-profit organizations that support specific “diseases.” Patients, with those diseases, may or may not benefit from those organizations unless they seek them out. One thing that every patient with Sickle Cell disease can benefit from is the donation of blood.

I recently read an article about a young girl with Sickle Cell disease who has received over 400 blood transfusions in her short lifetime. She is now working with community churches to encourage donations as part of “Sickle Cell Sabbath.” This effort was directed to community churches because they are a symbol of goodwill and a pillar God’s love. Together with a local blood center, this young girl has begun a quest to ask churches for donations of blood, rather than money. A donation that we all know will be put to good use.

We can all learn a lesson from this young girl, who has moved past her personal struggle to enhance the lives of others. We can find creative ways to help people and meet their needs, as we care for our own. We can give money, if possible, and we can give love, always. We can also encourage the world to give blood and make a donation to someone’s life. xoxoxox

http://www.redcross.org/

http://www.kentucky.com/139/story/712761.html