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Facts about Sickle Cell Disease

It is a serious blood disorder

  • Sickle cell disease affects the shape of the body’s red blood cells:
    People who have sickle cell disease have red blood cells that are not soft and round like normal blood cells. Instead, many of their blood cells are shaped like the letter C or the crescent moon. They are also shaped like an old farm tool called a sickle. That is why the cells are called “sickle cells”
  • It also affects the way the body’s red blood cell function
    This means those red blood cells cannot carry the same amount of oxygen to the body’s tissues. For a series of complex genetic and biochemical reasons, this can cause some difficult and even life-threatening problems

It is an inherited (genetic) disorder.

You inherit it from your two parents – not just one.

This means it is passed down through your genes just like your eye color, your hair texture, and many of the other parts of your body that make you who you are.

  • It requires at least one “Sickle Gene” (the S gene).
    It is caused when at least one parent has a “Sickle Gene” (S) and the other parent has a gene that can combine with it to produce a baby with sickle cell disease. This means that the other parent does not always need to have sickle cell trait but may have another hemoglobin variant trait
  • You cannot “catch it”.
    Since it is inherited, it is not contagious. You do not carry it or spread it like you can carry and spread an infectious disease. You are born with it and, unless you are cured using one of the new methods being perfected, you grow up with it
  • There are several types of sickle cell disease. The four prevalent types of sickle cell disease:
    • Hb SS (Both parents carry the sickle gene)
    • Hb SC (One parent carries the sickle gene & one parent carries hemoglobin C gene)
    • Hb SBeta+Thalassemia (One parent carries the sickle gene & one parent carries hemoglobin Beta+Thalassemia gene)
    • Hb SBeta0Thalassemia (One parent carries the sickle gene & one parent carries hemoglobin Beta0Thalassemia gene)

 For more information, https://www.cdc.gov/sickle-cell/media/files/Sickle-Cell-Infographic.pdf

It can cause several serious complications

It is a complex condition that, can lead to many complications requiring the care of a hematologist or a clinician trained in the management of sickle cell disease.

But not everyone has every complication.
Some complications, such a severe pain, can be make it hard for you to function normally for a while. Some, like stroke, can cause changes that may leave a person disabled for the rest of their life. Some other complications can even cause death, especially if a person cannot receive specialized care.

Many people with sickle cell disease live very rewarding and productive lives.

  • Excellent care can make a difference.
    Care that is evidence-based, compassionate, respectful, available, and accessible can help to prolong and enrich lives
  • The support of family, friends, and communities is also important.
    People with sickle cell disease need the understanding, encouragement, and the respect of those they live, study, and work with. In turn, they can bring us joy and support just like everyone else who is a part of our lives

Sickle cell disease is the most common genetic disease in the world but, until recently, has received little attention.

Incidence

  • The frequency of sickle cell disease in populations are often estimated by the number of people who are likely to be born with the condition based on the geographic prevalence of the sickle hemoglobin gene
  • The population frequency of sickle cell disease depends on geography because sickle cell trait is more common in people whose ancestors were from areas where malaria infections were frequent
  • Worldwide, millions of people have sickle cell disease and at least 515,000 babies are born with sickle cell disease every year
  • Most of these babies born in low- and middle-resource countries will die before 5 years of age
  • In comparison, over 90% born in high-resource countries where early disease detection and treatment are common, will live to be adults

* The Lancet Haematology

Recent Interest After Years of Neglect

  • Sickle cell disease, more common in people of African descent, has been overlooked for decades.
  • Health care disparities, stigma and limited resource investment to insure strong research, access to high quality health care and consistent advocacy efforts
  • These inequities have received national and international attention-see the following reports:

The NASEM Report
The No One’s Listening Report

Transformative Cellular Therapies Now and on the Horizon

Hematopoietic Stem Cell Transplantation

  • Hematopoietic stem cell transplantation is offered as a curative therapy option primarily for individuals with sickle cell disease who have a brother or sister without sickle cell disease who is good match. By a “good match” we mean that it is less likely that the person with sickle cell disease will recognize the stem cells from the donor as being “foreign” or unlike their own
  • Because finding a perfect match among family members is unlikely, other donors can be used.  However, this is riskier.  Problems may occur at a higher rate such as rejection of the donor cells or an immune reaction called graft versus host disease. Stem cell transplantation using these other donors remains experimental at this time, but advances are progressing

Gene Therapy

Gene therapy is now an option for adults especially because finding a perfect match is challenging.  However, this is a slightly different process than stem cell transplant from another person:

Gene therapy for individuals with sickle cell disease requires: 

  • Stem cell collection: Collection of hematopoietic stem cells from the patient
  • Transduction or modification of stem cells: Changing the genetic code within the stem cells so that red cell sickling is less likely
  • Preparative regimens: Giving the patient special medication such as chemotherapy to make room in the bone marrow for the modified stem cells to grow
  • Modified stem cell infusion: Giving the modified stem cells back to the patient and waiting for them to produce healthy red blood cells

Although two types of gene therapy for sickle cell disease are available for adults in the US and UK, many other gene therapies are being developed through research at this time.