Researchers take step toward gene therapy for sickle cell disease

Stanford: A team of researchers at the Stanford University School of Medicine has used a gene-editing tool known as CRISPR to repair the gene that causes sickle cell disease in human stem cells, which they say is a key step toward developing a gene therapy for the disorder. The team went on to demonstrate that the mended cells could make a functioning hemoglobin molecule, which carries oxygen in normal red blood cells, and then successfully transplanted the stem cells into mice. The researchers say the study represents a proof of concept for the repair of blood-borne genetic diseases, such as sickle cell disease and thalassemia.

Sickle Cell Disease: Gene-Editing Tools Point to Possible Ultimate Cure

NIH:Scientists first described the sickle-shaped red blood cells that give sickle cell disease its name more than a century ago. By the 1950s, the precise molecular and genetic underpinnings of this painful and debilitating condition had become clear, making sickle cell the first “molecular disease” ever characterized. The cause is a single letter “typo” in the gene encoding oxygen-carrying hemoglobin. Red blood cells containing the defective hemoglobin become stiff, deformed, and prone to clumping. Individuals carrying one copy of the sickle mutation have sickle trait, and are generally fine. Those with two copies have sickle cell disease and face major medical challenges. Yet, despite all this progress in scientific understanding, nearly 70 years later, we still have no safe and reliable means for a cure.

New age of genome editing could lead to cure for sickle cell anaemia

Scimex: UNSW Australia researchers have shown that changing just a single letter of the DNA of human red blood cells in the laboratory increases their production of oxygen-carrying haemoglobin – a world-first advance that could lead to a cure for sickle cell anaemia and other blood disorders. The new genome editing technique, in which a beneficial, naturally-occurring genetic mutation is introduced into cells, works by switching on a sleeping gene that is active in the womb but turned off in most people after birth.

Phytomedicines for sickle cell disease

Cochrane: Sickle cell disease is an inherited blood condition caused by defects in the production of haemoglobin. Haemoglobin is the part of the red blood cell that carries oxygen across the body. Sickle cell disease occurs when people inherit faulty genes responsible for producing haemoglobin from both parents. A variety of complications and a reduced life expectancy are linked with sickle cell disease. Phytomedicines are medicines derived from plants in their original state. People with sickle cell disease may come across them in terms of plant-remedies from traditional healers. Their benefits have not been evaluated systematically. Laboratory work has long suggested that these medicines may help to ease the symptoms of sickle cell disease.

Investigational Therapy Could Attack Cause of Sickle Cell Crises

Duke University. US: Treatment for painful episodes of blood vessel obstruction in sickle cell anemia is currently limited to controlling pain, but an investigational therapy might be able to interfere with the underlying cause of these events, known as vaso-occlusion crises, researchers at Duke Medicine report.

Bone Marrow Transplantation Shows Potential for Treating Adults with Severe Sickle Cell Disease

JAMA: Use of a lower intensity bone marrow transplantation method showed promising results among 30 patients (16-65 years of age) with severe sickle cell disease, according to a study in the July 2 issue of JAMA.

New Guideline Created for Managing Sickle Cell Disease

JAMA: An expert panel has created a new evidence-based guideline for managing sickle cell disease (SCD), with a strong recommendation for the use of the drug hydroxyurea and transfusion therapy for many individuals with SCD, although high-quality evidence is limited, with few randomized clinical trials conducted for this disease, according to an article in the September 10 issue of JAMA.

Sickle Cell Trait Among African Americans Associated With Increased Risk of Chronic Kidney Disease

JAMA: In a study that included nearly 16,000 African Americans, those with sickle cell trait had an associated increased risk of chronic kidney disease and measures linked to poorer kidney function, according to a study appearing in JAMA. Sickle cell trait is a condition in which a person has only one copy of the gene for sickle cell but does not have sickle cell disease (which requires two copies of this gene). The study is being released to coincide with its presentation at the American Society of Nephrology’s annual Kidney Week meeting.

New app helps sickle cell anaemia patients keep medical records

Imperial College. UK: Researchers at Imperial College London have designed a new app to help sickle cell anaemia patients keep track of their condition. Sickle cell anaemia (SCA) is an inherited blood disorder, in which the oxygen-carrying blood cells develop abnormally, so patients have trouble pumping enough oxygen around their body.  People with the disease experience lethargy and breathlessness, particularly after exercise, and sometimes have episodes of severe pain caused by abnormal cells blocking blood vessels.

Hydroxyurea

What is sickle cell syndrome?

Sickle cell syndrome is a group of inherited diseases caused by a mutation in a blood protein called haemoglobin. The mutation leads to changes in the shape and behaviour of red blood cells. They become hard, sticky and shaped in the form of a sickle (the sharp hooks used to cut the wheat). This causes small blood clots that block blood flow, and cause repeated painful episodes, called crisis. In the long run, this causes severe damage to the organs in the body. The clinical picture of patients with sickle cell syndrome can be remarkably different. Some patients remain virtually without complaints, while others suffer repeated crises requiring admission to hospital from early childhood. The prototype disease in the sickle cell syndrome group, is the sickle cell anaemia, which is at the same time the most common and severe in the group.

Sickle cell anemia

Sickle cell anemia ( Also called: Hemoglobin SS disease or drepanocytosis ) is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.

The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.

A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.

Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.

More about sickle cell anemia

Sickle cell anemia

Sources: Pr Frédéric GALACTEROS MD. Orphanet  /  Genetics Home Reference

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.