Pneumonia is a leading cause of death in infants and young children with SCD. See a tip sheet on how to help prevent infection ». Infections are treated with antibiotic medicines and sometimes blood transfusions. At the first sign of an infection, such as a fever, it is important to see a doctor right away as this may represent a medical emergency for people with SCD. Early treatment of infection can help prevent problems.
This can be life-threatening and should be treated in a hospital. Symptoms and signs are similar to pneumonia. Signs and symptoms include chest pain, coughing, difficulty breathing, and fever. Adults with severe SCD can take a medicine called hydroxyurea to help prevent acute chest syndrome. People taking hydroxyurea are monitored closely with regular blood testing and dose adjustments to prevent complications.
Depending on the cause, treatment might include oxygen, medicine to treat an infection, medicine to open up airways to improve air, and blood transfusions. It happens when a large number of sickle cells get trapped in the spleen and cause it to suddenly get large. Symptoms include sudden weakness, pale lips, fast breathing, extreme thirst, abdominal belly pain on the left side of body, and fast heartbeat. For those who have had a very severe, life-threatening episode of splenic sequestration or who have had many episodes in the past, it might be necessary to have regular blood transfusions or the spleen can be removed called splenectomy to stop it from happening again.
Treatment typically is a blood transfusion. This should be done in consultation with a blood specialist as patients sometimes become overloaded with fluid when the blood is released from the spleen. Removal of blood may be necessary to prevent this from happening. Vision loss, including blindness, can occur when blood vessels in the eye become blocked with sickle cells and the retina the thin layer of tissue inside the back of the eye gets damaged. Some patients develop extra blood vessels in the eye from the lack of oxygen.
People with sickle cell disease should have their eyes checked every year to look for damage to the retina. If possible, this should be done by an eye doctor who specializes in diseases of the retina. If the retina is damaged by excessive blood vessel growth, laser treatment often can prevent further vision loss. This usually occurs on the lower part of the leg. They happen more often in males than in females and usually appear from 10 through 50 years of age. A combination of factors cause ulcer formation, including trauma, infection, inflammation, and interruption of the circulation in the smallest blood vessels of the leg.
Leg ulcers can be treated with medicated creams and ointments. Leg ulcers can be painful, and patients can be given strong pain medicine. Management of leg ulcers could also include the use of cultured skin grafts. This treatment is provided in specialized centers.
The cells of the second leukaemia patient did contain a viral insertion — but in a gene that has no known role in cancer. These results suggest that lentivirus is not the relevant risk factor — but because the leukaemia arose from a genetically modified cell, HSC damage from chemotherapy was also not to blame in that case.
These findings are in keeping with the generally robust safety record of lentivirus in gene therapy for other disorders, but leave the cause of the AML as an open question. One hypothesis is that sickle-cell HSCs accumulate mutations more rapidly than their healthy counterparts do, making them especially vulnerable to cancerous transformation. But if the root cause proves to be an inherent problem with the bone marrow of sickle-cell patients, both lentivirus and CRISPR-based therapies could remain equally likely to result in malignancies.
Even if there is a link to cancer risk, this will not be the end of the line for gene therapy in sickle-cell disease. For example, as Williams and Kohn reopen their respective lentivirus trials, they will adopt more-rigorous screening for trial participants to look for genetic mutations that might result in increased cancer risk. And because the prognosis for sickle-cell disease grows increasingly grim as individuals approach middle age, many could be willing to take their chances if there are relatively low odds of serious complications.
But honest, open communication will be essential to keep the patient community invested in clinical-trial participation. He also highlights the importance of broader education about gene therapy for primary-care physicians, based on surveys showing that people with sickle-cell disease rely most heavily on their family doctors in making health decisions.
It is a big ask for people to sign up to early clinical testing and development, with the prospect of beating this deadly disease balanced against so many unanswered questions. This article is part of Nature Outlook: Sickle-cell disease , an editorially independent supplement produced with the financial support of third parties.
About this content. Fitzhugh, C. Blood , — PubMed Article Google Scholar. Sankaran, V. Science , — Thompson, A. Blood , Article Google Scholar. Ribeil, J. Esrick, E. Frangoul, H. Brunson, A. Download references. Spotlight 06 OCT Outlook 25 AUG News 27 OCT News 22 OCT Article 03 NOV News 29 OCT KU Leuven. NUI Galway. Francis Crick Institute. Yale Cancer Center. Our Mission. UI Health now provides hope for a cure to patients with sickle cell disease through stem cell transplantation and without the need for chemotherapy.
The procedure — developed at the National Institutes of Health in Bethesda, Maryland, and validated at UI Health — relies on transplanted cells from a healthy, tissue-matched, full sibling. Patients receive immunosuppressive drugs just before the transplant, along with a very low dose of total body irradiation, a treatment much less harsh and with fewer potentially serious side effects than chemotherapy.
Next, the sibling donor cells are transfused into the patient. Stem cells from the donor produce healthy new blood cells in the patient, eventually in sufficient quantity to eliminate symptoms of sickle. In many cases, sickle cells can no longer be detected.
In , Chicagoan Iesha Thomas became the first patient in the Midwest to successfully receive a stem cell transplant to cure sickle cell. Thomas Thomas had her first sickle cell crisis when she was just 8 months old.
0コメント