Right now, roughly 20 billion red blood cells You are busy traveling through your blood vessels. They are providing oxygen to all of your body's different tissues and removing carbon dioxide for respiration out of your lungs.
Red blood cells are discs On each side, with none cell nucleus. He is stuffed with hemoglobin, a protein chargeable for gas exchange. Hemoglobin molecule is an iron -carrying ingredient called hem, which will be crammed with oxygen.
The form of red blood cells Useful for navigating the blood vessels of all sizes as needed to navigate. It also provides a big level for gas exchange. Hemoglobin collects oxygen within the lungs, where it has loads of it, and releases it all around the body, where very low.
But not if you happen to are affected by scale cell disease, which is closely affected Eight million people around the worldMost of all in Sahara Africa.
In the UKAbout 17,500 people have cell disease and 300 children are born yearly. It is a genetic disorder that’s attributable to an individual's inherited variations that affect the properties of hemoglobin.
Hemoglobin is made Four proteins Organized across the Ham Group carrying iron. These proteins are called globins, and every hemoglobin molecule comprises two alpha and two sons gluten.
Scale cell disease changes adult beta globin. Instead of two alpha and two healthy beta chains, patients with scale cell disease have two alpha and two mutant beta chains. Resulting in hemoglobin called HBS.
HBS is Different specializations In peculiar adult hemoglobin, causing severe symptoms. HBS is structurally unstable. High temperatures, dehydration, acidity, corresponding to infection occurs, it Red blood cells are blinking inside. Clips tighten red blood cells and switch their shapes into elastic dumps from elastic donuts – so the name of this disease.
Strictly -stricken cells cannot travel through narrow blood vessels, which prevent them, and form a gym that prevent blood circulation in other places. Folds change locally oxygen and acidity, which is more humorous.
The accumulation of the gym causes something maximum Acute symptom Scale cell disease, including stroke, kidney failure, blindness, long and painful standing (called preparation) and lack of circulation within the lungs – an acute chest syndrome.
Frequently Destroys stains and spleenIncrease the chance of Repeatedly being infectedOften through stretchococcal bacteria that may cause Severe pneumonia and sepsis.
Scale red blood cells are also easily broken, a phenomenon called hemorrosis. The body tries to supply more red blood cells, but cannot correct the essential defect. Patient Experience of similar symptoms In other types of anemia, including pale, breath after labor, fatigue. Leads to hemoliosis Inflammation and blood vessels damagedPromote more scaling symptoms.
Lifetime inconvenience
Symptoms and complications Scale cell disease begins in the primary yr of life and develops in severity. This disease reduces the standard and duration of patients' lives. In the UKScale cell disease is anticipated to be 67.
Worldwide, expecting life Is less than 50 And Too many children All the Sahara in Africa die before the age of 5 with a scale cell disease. Scale cell disease patients rely on the transfer of healthy red blood cells – over time This causes complications Her own
Recently, The only treatment Scale cell disease was a stem cell transplant – also generally known as bone marrow transplantation – a healthy donor is a synchronized immune system that won’t be rejected, or won’t be attacked by the patient. Often, it’s a sibling or parent, but, I Up to 75 % of casesCan't discover a compatible relative.
Stem cell transplantation The patient's blood factory replaces cells, which produce HBS, with blood -making cells without genetic defects, which produce normal adult hemoglobin. Transplanted blood stem cells maintain healthy hemoglobin production for all times.
In the absence of transplantation, patients of scale cell disease Receive a regular transferWho supply healthy blood cells. But, unlike cell cells, red blood cells are short -term.
Patients also get a drug named Hydroxy carbamideWhich is used to treat cancer patients and should be toxic, but eliminates the symptoms. Hydro -oxycic carbamide acts by activating a gene that causes fetal hemoglobin preparation, which shouldn’t be affected by the mutation of the dimensions cell disease.
In 2024, two types of gene therapy Were approved For the treatment of scale cell disease American Food and Drug Administration. Both include collecting stem cells from the patient, genetically modifying them, and re -transplanting the patient in order that the body is bleeding from the suitable cells for the remainder of the patient.
First within the treatment of Jane, Is commercially called CasjaviWorks by removing and disabled a gene that is generally chargeable for producing beta glubn. It takes the HBS in red blood cells with non -infected fetal hemoglobin.
Second gene therapy, called Levotibeglogene Autotemcel)Works in another way. It introduces a further gene in stem cells, which reduces the general formation of HBS and the prospect of getting sick, which reduces the more severe symptoms of the disease.
The development and testing of genes and cell treatment for scale cell disease continues to be An ongoing attempt Of many scientists and firms. That there are actually two approved treatments for the dimensions cell disease, highlighting the importance of supporting the investigation and development of technologies based on an in depth understanding of the biological approach to the disease.
These investigations are the important thing to treating patients with genetic diseases, which is usually not available another available treatment.