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A Look at Sickle Cell Anemia

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September is National Sickle Cell Month

Although many of us have heard of sickle cell anemia, its causes, effects, and future outlook aren’t as commonly known or understood. This is primarily due to a lack of public awareness and an even greater lack of funding for researchers who would otherwise fight the disease.

Sickle Cell Overview

Sickle cell is a genetic disease that is caused by a rare form of hemoglobin called hemoglobin S. Hemoglobin S causes red blood cells (normally disc shaped) to shrink, reducing them to a crescent, or sickle shape that is far less effective in performing its normal functions. When regularly treated, sickle cell patients typically live into their 50’s and beyond, while those who go untreated only reach 20-40 years of age before succumbing to organ failure or infection.

Because sickle cell is caused by a single pair of genes, its only source comes from carriers of the sickle cell trait. When two such carriers have a child, the child has a 25% chance of having sickle cell disease, a 50% chance of carrying the sickle cell trait, and a 25% chance of having a fully functional gene pair.

According to PubMed Health, sickle cell is most commonly found in people whose lineage is of African American or Mediterranean descent, although it does occur less frequently in other groups. In fact, approximately 1 in 12 African Americans studied posses  the sickle cell trait, even if they do not show symptoms of the disease.

The many symptoms of sickle cell, which do not typically occur until after 4 months of age, include pain in the abdomen, bones, or chest, fatigue and breathlessness, delayed growth or puberty, fever, paleness, rapid heart rate, ulcers, jaundice, excessive thirst, frequent urination, painful and prolonged erection (priapism), poor eyesight, strokes, and skin ulcers.

Sickle Cell Treatment

While sickle cell can be completely cured through stem cell treatments or bone marrow replacement therapy, the high costs and/or risks to the patient from such treatments typically mean that only a small percentage of sickle cell patients will be cured. For the same reasons, curative treatment is only available to a small percentage of patients, leaving the majority without other options.

Patients with sickle cell must seek frequent treatments, even when symptoms are not present, to prevent increasing frequency of symptom recurrence. Thanks largely to modern treatment methods for sickle cell symptoms, life expectancy and relative quality of living have become greatly improved over recent years.

Most importantly, sickle cell patients must maintain high oxygen levels, stay continuously hydrated through fluid intake and by avoiding sun exposure. Patients should also seek immediate attention for infections or symptom outbreaks. Additionally, patients should avoid high altitudes, strenuous activities, substance abuse, and obtain vaccinations according to the recommended schedule for optimal prognosis.

Genetic counseling may also prove beneficial to parent carriers of the sickle cell trait to assess the likelihood that children will have sickle cell and, in some cases, to predict the likely level of severity.

Sickle Cell Research

It is an unfortunate fact that funding for research facilities and sickle cell treatment centers is severely limited. However, the grim outlook for sufferers of sickle cell could change in the near future as universities, research centers, and hospitals explore patient options and beneficial treatments.

To make a difference in the lives of those who suffer from sickle cell, and the lives of future generations, there are a number of organizations already in place to make a difference. These organizations include, but are certainly not limited to, the Red Cross, Johns Hopkins Children’s Hospital, and the Armstead-Barnhill Foundation for Sickle Cell Anemia.

Author: Kevin Freeman

 

Sources:

PubMed Health: Sickle Cell Anemia
Armstead-Barnhill Foundation: Funding Sickle Cell Research at Johns Hopkins

$5 Million NIH Grant to Fund New Sickle Cell Disease Center

SicklecellDisease.org: Research and Reference

Harvard Study: How do People Get Sickle Cell Disease?

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5 Comments

  1. Brooke says:

    Great information about Sickle Cell Anemia! I’m so glad you said this “Genetic counseling may also prove beneficial to parent carriers of the sickle cell trait to assess the likelihood that children will have sickle cell and, in some cases, to predict the likely level of severity.” Its important for people who want to have children and have this disease in their family to get tested to find out the likely hood their children will have it. Thanks for sharing such great info!

    Reply
  2. googlepo says:

    Great article . Will definitely apply it to my blog

    Reply
  3. Divana says:

    Sickle cell kids (and adults) really do go through a lot. My hospital has tried a couple bone marrow transplants for some of these kids and the success rate isn’t that great. Great information and thanks for bringing awareness to this condition.

    Reply
    • emandler says:

      Hi Divana, Thank you for sharing your experience with us! This is a devastating illness and the more awareness we can bring to it hopefully a cure will soon follow!

      Reply
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