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Diving into the Genetics of Sickle Cell Disease

NNPA NEWSWIRE — Research indicates that as many as 3 million Americans carry the sickle cell trait, primarily impacting African Americans. In fact, nearly 1 in 12 African Americans have the sickle cell trait.

Published

5 years ago

January 10, 2019

Oakland Post

The “Ask Dr. Kevin” series is brought to you by Pfizer Rare Disease in collaboration with the National Newspaper Publishers Association (NNPA) to increase understanding of sickle cell disease.

Dr. Kevin Williams is the Chief Medical Officer for Rare Disease at Pfizer. He pursued medicine after being inspired by his father’s work as a general practitioner in his hometown of Baton Rouge, Louisiana. Dr. Kevin is passionate about raising awareness and increasing understanding of rare diseases, such as sickle cell disease, in the African American community.

In recent years, genetics has become a hot topic in popular culture, frequently making news headlines and serving as a key theme in movies and TV shows—and for good reason: our genes are what make us unique.

Genes not only help to shape our tastes and preferences, but they also can influence our health. In some cases, our genes play silent roles within our bodies. In others, genes take on a more prominent role, even determining our likelihood of having specific diseases.

This brings me to sickle cell disease (SCD), a topic I am passionate about and have discussed in previous articles. In this article, I’d like to focus on the often under-recognized fact that SCD is a genetic disease and is inherited from the passing of the sickle cell gene from parent to child.

Not everyone who inherits the sickle cell gene has SCD. Only people who inherit the gene from both parents develop this condition. This is an important distinction, as a person who inherits the sickle cell gene from only one parent while inheriting a normal gene from the other will have sickle cell trait, and typically will live a relatively normal life. However, people with sickle cell trait have a 50% chance of passing the gene to their children.[1]

I’m here to answer some of the most common questions that I’m asked about the sickle cell trait and suggest available resources for additional information.

How prevalent is the sickle cell trait?

Research indicates that as many as 3 million Americans carry the sickle cell trait, primarily impacting African Americans. In fact, nearly 1 in 12 African Americans have the sickle cell trait.¹

Worldwide, more than 100 million people carry the sickle cell trait.[2] It is most prevalent among sub-Saharan Africans, Hispanics, South Asians, Caucasians from southern Europe, and people from the Middle East.¹

Are there complications with having the sickle cell trait?

The majority of people who carry the sickle cell trait do not experience complications. However, that is not to say that everyone with the trait remains symptom-free. Though rare, extreme conditions such as severe dehydration, high-intensity physical activity, and low oxygen environments (e.g.: high-altitude locations) can lead to serious health issues or even sudden death for individuals with the sickle cell trait.¹

How do you know if you have the sickle cell trait?

All it takes is a simple blood test to learn if you have the sickle cell trait. You can talk with your doctor or a health clinic about getting the test.

In the US, all newborns are screened for the sickle cell trait before they leave the hospital. The results are usually available at the child’s one-month appointment. I strongly encourage older children and adults who weren’t tested as newborns to consider getting the test.

Why is it important to know your sickle cell trait status?

Getting screened is extremely important. If you know you have the trait, you will be more likely to take precautions to avoid those extreme conditions I mentioned earlier, like severe dehydration, high-intensity physical activity, and low-oxygen environments (eg, high-altitude locations), which could potentially trigger the onset of symptoms.¹

For those considering having children, consulting a genetic counselor, who can help them better understand what it means to be a carrier of the gene and the chances of having a child with SCD or the trait, should be considered.

It is important for everyone, particularly African Americans, to know their status. I always say that knowledge is power when it comes to your health.

Where can you go to learn more?

I encourage you to speak with your doctor about any concerns related to SCD and the sickle cell trait. There are also great resources out there to learn more: Head to com to find information and advice for patients and caregivers, search for healthcare professionals, and access community support and other resources.
Review the US Centers for Disease Control and Prevention’s “Get Screened to Know Your Sickle Cell Status” to learn more about sickle cell testing.
Contact national and/or local advocacy groups to learn more about genetic screenings that are offered in your area.

About Dr. Kevin Williams

Dr. Kevin Williams is the Chief Medical Officer (CMO) for Pfizer Rare Disease. In this role, he leads a Medical Affairs organization of approximately 150 medical colleagues around the globe supporting Pfizer’s efforts and portfolio in Rare Disease. Dr. Kevin joined Pfizer in January 2004 as a Director of Regional Medical & Research Specialist working in the HIV disease area. After moving into a Team Leader position in July 2005, he served in various leadership roles during his career at Pfizer. Dr. Kevin moved into his current Rare Disease CMO position in May 2016.

Dr. Kevin received his medical degree from the UCLA School of Medicine and is board certified in Internal Medicine. Following a 2-year fellowship in Health Services Research at UCLA and a brief academic career as an Instructor of Medicine at the UCLA School of Medicine, he spent 8 years in private practice caring for HIV-positive patients while maintaining an academic appointment at the UCLA School of Medicine as an Assistant Clinical Professor of Medicine. In addition to his medical degree, Dr. Kevin has a Masters in Public Health from the UCLA School of Public Health and a Juris Doctorate from Harvard Law School.

Keep up to date on Pfizer’s SCD efforts by visiting our page here. You can also follow Pfizer on Facebook and Twitter.

[1] Centers for Disease Control and Prevention. What you should know about sickle cell trait. https://www.cdc.gov/ncbddd/sicklecell/documents/SCD%20factsheet_Sickle%20Cell%20Trait.pdf. Accessed November 13, 2018.

[2] American Society of Hematology. Sickle cell trait. http://www.hematology.org/Patients/Anemia/Sickle-Cell-Trait.aspx. Published September 8, 2017. Accessed November 18, 2018.

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IN MEMORIAM: Ramona Edelin, Influential Activist and Education Advocate, Dies at 78

NNPA NEWSWIRE — Born on September 4, 1945, in Los Angeles, California, activist Ramona Edelin’s early years were marked by a commitment to education and social justice. According to her HistoryMakers biography, after graduating from Fisk University with a Bachelor’s degree in 1967, she pursued further studies at the University of East Anglia in England. She earned her master’s degree before completing her Ph.D. at Boston University in 1981.
The post IN MEMORIAM: Ramona Edelin, Influential Activist and Education Advocate, Dies at 78 first appeared on BlackPressUSA.

Published

4 weeks ago

April 3, 2024

Stacy M. Brown

By Stacy M. Brown, NNPA Newswire Senior National Correspondent
@StacyBrownMedia

Once upon a time, Black Americans were simply known as colored people, or Negroes. That is until Ramona Edelin came along. The activist, renowned for her pivotal roles in advancing civil rights, education reform, and community empowerment, died at her D.C. residence last month at the age of 78. Her death, finally confirmed this week by Barnaby Towns, a communications strategist who collaborated with Dr. Edelin, was attributed to cancer.

Born on September 4, 1945, in Los Angeles, California, Edelin’s early years were marked by a commitment to education and social justice. According to her HistoryMakers biography, after graduating from Fisk University with a Bachelor’s degree in 1967, she pursued further studies at the University of East Anglia in England. She earned her master’s degree before completing her Ph.D. at Boston University in 1981.

Edelin’s contributions to academia and activism were manifold. She was pivotal in popularizing the term “African American” alongside Rev. Jesse L. Jackson in the late 1980s.

Jackson had announced the preference for “African American,” speaking for summit organizers that included Dr. Edelin. “Just as we were called Colored, but were not that, and then Negro, but not that, to be called Black is just as baseless,” he said, adding that “African American” “has cultural integrity” and “puts us in our proper historical context.”

Later, Edelin told Ebony magazine, “Calling ourselves African Americans is the first step in the cultural offensive,” while linking the name change to a “cultural renaissance” in which Black Americans reconnected with their history and heritage.

“Who are we if we don’t acknowledge our motherland?” she asked later. “When a child in a ghetto calls himself African American, immediately he’s international. You’ve taken him from the ghetto and put him on the globe.”

The HistoryMakers bio noted that Edelin’s academic pursuits led her to found and chair the Department of African American Studies at Northeastern University, where she established herself as a leading voice.

Transitioning from academia to advocacy, Edelin joined the National Urban Coalition in 1977, eventually ascending to president and CEO. During her tenure, she spearheaded initiatives such as the “Say Yes to a Youngster’s Future” program, which provided crucial support in math, science, and technology to youth and teachers of color in urban areas. Her biography noted that Edelin’s efforts extended nationwide through partnerships with organizations like the National Science Foundation and the United States Department of Education.

President Bill Clinton recognized Edelin’s expertise by appointing her to the Presidential Board on Historically Black Colleges and Universities in 1998. She also co-founded and served as treasurer of the Black Leadership Forum, solidifying her standing as a respected leader in African American communities.

Beyond her professional achievements, Edelin dedicated herself to numerous boards and committees, including chairing the District of Columbia Educational Goals 2000 Panel and contributing to the Federal Advisory Committee for the Black Community Crusade for Children.

Throughout her life, Edelin received widespread recognition for her contributions. Ebony magazine honored her as one of the 100 Most Influential Black Americans, and she received prestigious awards such as the Southern Christian Leadership Award for Progressive Leadership and the IBM Community Executive Program Award.

The post IN MEMORIAM: Ramona Edelin, Influential Activist and Education Advocate, Dies at 78 first appeared on BlackPressUSA.

Stacy M. Brown

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Tennessee State University Board Disbanded by MAGA Loyalists as Assault on DE&I Continues

NNPA NEWSWIRE — Recent legislative actions in Tennessee, such as repealing police reform measures enacted after the killing of Tyre Nichols, underscore a troubling trend of undermining local control and perpetuating racist agendas. The new law preventing local governments from restricting police officers’ authority disregards community efforts to address systemic issues of police violence and racial profiling.
The post Tennessee State University Board Disbanded by MAGA Loyalists as Assault on DE&I Continues first appeared on BlackPressUSA.

Published

4 weeks ago

April 3, 2024

Stacy M. Brown

By Stacy M. Brown, NNPA Newswire Senior National Correspondent
@StacyBrownMedia

Tennessee State University (TSU), the state’s only public historically Black college and university (HBCU), faces a tumultuous future as Gov. Bill Lee dissolved its board, a move supported by racist conservatives and MAGA Republicans in the Tennessee General Assembly, who follow the lead of the twice-impeached, four-times indicted, alleged sexual predator former President Donald Trump. Educators and others have denounced the move as an attack on diversity, equity, and inclusion (DE&I) and a grave setback for higher education.

Critics argue that TSU’s purported financial mismanagement is a manufactured crisis rooted in decades of underinvestment by the state government. They’ve noted that it continues a trend by conservatives and the racist MAGA movement to eliminate opportunities for Blacks in education, corporate America, and the public sector.

Gevin Reynolds, a former speechwriter for Vice President Kamala Harris, emphasizes in an op-ed that TSU’s financial difficulties are not the result of university leadership because a recent audit found no evidence of fraud or malfeasance.

Reynolds noted that the disbanding of TSU’s board is not an isolated incident but part of a broader assault on DE&I initiatives nationwide. Ten states, including Tennessee, have enacted laws banning DE&I policies on college campuses, while governors appointing MAGA loyalists to university trustee positions further undermine efforts to promote inclusivity and equality.

Moreover, recent legislative actions in Tennessee, such as repealing police reform measures enacted after the killing of Tyre Nichols, underscore a troubling trend of undermining local control and perpetuating racist agendas. The new law preventing local governments from restricting police officers’ authority disregards community efforts to address systemic issues of police violence and racial profiling.

The actions echo historical efforts to suppress Black progress, reminiscent of the violent backlash against gains made during the Reconstruction era. President Joe Biden warned during an appearance in New York last month that Trump desires to bring the nation back to the 18th and 19th centuries – in other words, to see, among other things, African Americans back in the chains of slavery, women subservient to men without any say over their bodies, and all voting rights restricted to white men.

The parallels are stark, with white supremacist ideologies used to justify attacks on Black institutions and disenfranchise marginalized communities, Reynolds argued.

In response to these challenges, advocates stress the urgency of collective action to defend democracy and combat systemic racism. Understanding that attacks on institutions like TSU are symptomatic of broader threats to democratic norms, they call for increased civic engagement and voting at all levels of government.

The actions of people dedicated to upholding the principles of inclusivity, equity, and justice for all will determine the outcome of the ongoing fight for democracy, Reynolds noted. “We are in a war for our democracy, one whose outcome will be determined by every line on every ballot at every precinct,” he stated.

The post Tennessee State University Board Disbanded by MAGA Loyalists as Assault on DE&I Continues first appeared on BlackPressUSA.

Stacy M. Brown

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