Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...

sickle cell anaemia is an dash disease :: Article Creator

Groundbreaking Gene Therapy Cures 21-year-old Of His Sickle Cell Anemia: 'I'm Not In Pain Anymore'

Sebastien Beauzile – By Northwell Health/Cohen Medical Center

A New York hospital has declared a patient cured of sickle-cell anemia, a debilitating genetic disorder that mostly affects individuals of African heritage.

Considered to be cured, other genetic treatments have proven successful in reducing or ending the bouts of pain and occasional surgeries that plague the lives of those who suffer from the disease.

Cohen Children's Medical Center said their patient Sebastien Beauzile, 21, is the first New Yorker to have received the breakthrough Lyfgenia treatment, according to the New York Post.

Developed by Bluebird Bio., Beauzile received the treatment in December of 2024. Since then, the young man has been seemingly cured of the disease which caused him skin ulcers, back pain, hip pain, joint pain, and severe chest pain.

"Growing up with sickle cell, it's kind of been over all my life," Sebastien said, according to Gene Online. "So now that I'm cured, I'd say it's my new birthday, because now nothing's going to stop me."

Part of a genetic mutation that humans developed to protect themselves against the malaria parasite, sickle cell disease occurs when blood cells, through forming sickle shapes, have trouble reaching the heart.

Dr. Jeffrey Lipton, the center's director for pediatric hematology, predicts Lyfgenia will replace bone marrow transplants as the primary method for addressing sickle cell anemia, and called the treatment "a fix."

Lygenia takes a sample of the patient's bone marrow and introduces healthy adult hemoglobin from a donor. Hemoglobin is a protein that helps transport oxygen through the body via red blood cells, and is at the heart of sickle cell disease. Tinkering the two, they are then infused back into the patient's body, where the donor hemoglobin is gradually coded for rather than the affected hemoglobin of the patient.

BEATING DISEASES: 13-year-old Successfully Undergoes World-First Treatment to Cure Rarer-Than-Rare Wild Syndrome

"Sebastien's recovery has been amazing, and we hope he is just the first of many patients we treat with Lyfgenia," said Charles Schleien, MD, senior vice president of Cohen Children's Medical Center.

In January, GNN reported that base editing, another form of gene therapy that, like Lygenia, doesn't involve the more famous CRISPR technology, was able to seemingly cure 20-year-old Brandon Baptiste, who is now "going to the gym every day, doing cardio and weight lifting."

OTHER CURES: Cure for Pre-Eclampsia is On Horizon as Researcher Discovers Lipid Nanoparticle to Deliver Directly to Placenta

Baptiste became eligible for an experimental trial of base editing called BEACON. By October 2023, after a year of tests to ensure he was physically capable in his diminished state to handle the procedure, it began with a sample of his blood stem cells.

These were then transferred to a separate facility where the base editing would take place. Using chemotherapy, his team then killed off all the diseased blood stem cells in his bone marrow, after which he was ready to receive his own stem cells back in November.

SHARE These Inspiring Stories Of Young Men Whose Lives Are Transformed…

Sickle Cell Anemia News

Apr. 11, 2024 — A drug approved to treat pulmonary arterial hypertension may be effective at managing hypertension and end-organ damage in patients with sickle cell disease, according to a new study. An early phase ...

July 27, 2023 — In a step forward in the development of genetic medicines, researchers have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders, allowing for the ...

May 4, 2023 — A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the ...

Apr. 17, 2023 — Scientists showed how prime editing can correct mutations that cause sickle cell disease in a potentially curative ...

Mar. 16, 2023 — While research has long established disparities in health outcomes among individuals living with sickle cell disease (SCD), few studies have quantified these gaps. A new study finds that the average ...

Jan. 30, 2023 — Researchers have designed a microfluidic device, or 'spleen-on-a-chip,' that can model how the spleen's filters become clogged by sickled red blood cells, leading to a life-threatening ...

Oct. 24, 2022 — Researchers are working to reveal potential threats to the efficacy of CRISPR/Cas9 gene editing, even when it appears to be working as ...

Oct. 12, 2022 — Scientists found the cellular response to low oxygen also increases fetal hemoglobin expression in adults, which could lead to novel treatments for some common genetic ...

Apr. 14, 2022 — Results from a phase 3 clinical indicate that the oral drug mitapivat is safe and effective for treating adults with pyruvate kinase deficiency, a genetic condition that causes red blood cell ...

Apr. 8, 2022 — Researchers have used CRISPR gene editing -- a type of 'molecular scissors' -- to understand how deletions in one area of the genome can affect the expression of nearby genes. The work will ...

What Is Sickle Cell Anaemia?

Five seemingly unconnected Black and ethnic minority Londoners discover they have superpowers in the hit Netflix series "Supacell". The link between them? They all suffer from sickle cell anaemia, a condition that disproportionately affects people of colour.

Beyond "subtly interspersing real-life issues that affect Black Britons" into the plot, the inclusion of sickle cell anaemia is its "biggest real-life undercurrent", wrote Lanre Bakare in The Guardian. The show began airing in June, a month after the UK's National Institute for Health and Care Excellence (Nice) approved a new drug that may alleviate the symptoms of the illness for the thousands of people who suffer from it.

What is sickle cell anaemia?

Sickle cell anaemia is a genetic condition in which the shape of blood cells changes into crescents reminiscent of a sickle, a mutation which can cause episodes of severe pain and other symptoms, and shorten life expectancy.

Subscribe to The Week

Escape your echo chamber. Get the facts behind the news, plus analysis from multiple perspectives.

SUBSCRIBE & SAVE

From our morning news briefing to a weekly Good News Newsletter, get the best of The Week delivered directly to your inbox.

In the UK, approximately 17,500 people live with sickle cell disease. Only one in five people know about the disease, according to Rapman, the creator of "Supacell", who is also known as Andrew Onwubolu. "It's crazy how unknown it is, especially for a disease that affects so many people," he told The Guardian.

How is it different from sickle cell disease?

Sickle cell disease refers to a set of related genetic conditions that affect red blood cells. Sickle cell anaemia is the most common and the most serious, and occurs in people who have inherited the gene from both parents, according to the NHS. Sickle cell disease predominantly affects people with an African or Caribbean heritage, as well as a smaller number of people with South Asian, Latin American or Middle Eastern ancestry.

What are the symptoms?

The main symptom of sickle cell disease, said the NHS, is painful episodes called "sickle cell crises" that can be "very severe" and last for days or weeks. These can be triggered by exposure to cold, sudden temperature changes or dehydration.

Those living with sickle cell disease are prone to anaemia episodes because in the misshapen red blood cells cannot carry enough oxygen around the body, leading to shortness of breath and tiredness. The deformed blood cells can also cause blockages in blood vessels, putting patients at risk of strokes and coma. Sickle cell disease is also associated with a higher susceptibility to certain types of infection. Sickle cell anaemia is a life-limiting condition that can shorten life expectancy by 20 to 30 years at its most severe, although average life expectancy with the disease has increased in recent years.

Why does it mostly affect Black and ethnic minority people?

This genetic variant is common among people from specific ethnic groups because the sickle shape of the red blood cell is "inhospitable to the parasite that causes malaria", said red blood cell researcher Johan Flygare on The Conversation. Technically, therefore, sickle cell disease protects individuals from malaria. But the sickle-shaped cells break down very easily as a result, and this leads to many of the symptoms.

What is the treatment?

Sickle cell anaemia sufferers need frequent blood transfusions. These offer quick relief to improve oxygen levels and reduce stroke risk, but they also cause iron to build up in vital organs like the heart and liver. There is also the potential for life-threatening immune reactions, such as "transfusion-related acute lung injuries", said Flygare.

Treatment options also include hydroxyurea, a relatively cheap drug that induces the production of a foetal version of the haemoglobin gene. This, in turn, leads to the formation of red blood cells and alleviates symptoms – but it also reduces the white blood cell count, which can weaken the immune system.

A new drug called Voxelotor which alleviates the symptoms of sickle cell disease has been described as "life-changing". It works by helping haemoglobin hold on to more oxygen and prevent them from becoming misshapen, said Sky News. Although it was initially rejected for widespread NHS use, Nice approved the drug in May for treating sickle cell anaemia in people aged 12 and older, with around 4,000 patients set to benefit.

Search This Blog

Congenital Hearing Loss