A Collaborative Support Project for Early Diagnosis, Intervention and Cure of Sickle Cell Disease in sub-Sahara Africa.
Sickle cell disease (SCD) is one of the world’s most common life-threatening inherited blood disorders. More than 300,000 babies are born with the disease every year, about 75% of them in sub-Saharan Africa. The majority of children affected will not survive adolescence.
SCD can be extremely painful for children and adolescents as well as emotionally challenging for the entire family. With a newborn screening in the first three to six month in life, life-threatening early complications can be largely avoided and simple interventions can be made at an early stage to lower pain and other symptoms.
With success rates of over 80% bone marrow transplantation (BMT) is the only treatment option available to date that can cure sickle cell disease. For this, bone marrow stem cells of a matched donor are transfused into the patient to produce healthy new blood cells in the patient. Unfortunately, there is a dire shortage of BMT services in sub-Saharan Africa to provide patients in need with access to treatment that potentially cures them.
Sickle cell disease is caused by mutations in the DNA regions that are responsible for the creation of hemoglobin. A mutation in that gene can distort red blood cells into a sickle shape thus creating difficulties with the blood flow. It is an inherited blood disorder, passed from parents to children.
Only when both copies of the hemoglobin gene are mutated does sickle cell disease occur. A carrier of sickle cell is someone who carries only one copy of the mutated gene that causes sickle cell disease and therefore does not develop the disease him- or herself. When two people who are carriers have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.
Early diagnosis combined with prevention of infections increases the life expectancy and the quality of life. Especially in the first years of life, children with sickle cell disease are very prone to life-threatening infections such as pneumonia or meningitis.
The aim of newborn screening for SCD is to identify and treat affected children as early as possible even if the child does not show any of the symptoms and seems to be healthy. For this, a small blood sample from the baby’s heel is collected on filter paper cards. Four weeks later the parents can collect the results of the screening. If the child is diagnosed simple interventions at an early age prevent life-threatening complications and help to manage the disease.
Sickle cell disease varies between individuals from mild to serious. Mild sickle cell disease may have no impact on a person's life, but for too many patients it is serious enough to have a significant effect and can be fatal.
The long-term survival of a child with sickle cell disease depends on several factors, including the severity of the disease and the extent to which preventive measures are taken. Advances in prevention and medications can reduce the life-threatening complications of this chronic disease.
Management of sickle cell disease is usually aimed at avoiding pain episodes, relieving symptoms, and preventing complications. Treatments include penicillin prophylaxis to prevent severe bacterial infections and hydroxyurea therapy can be highly effective for patients as this results in fewer pain crises and fewer episodes of acute chest syndrome, resulting in fewer stays in hospital.
Bone marrow transplants have been used to treat different types of blood cancer and life-threatening disorders of the blood-forming system for many decades. With success rates of over 80% bone marrow transplantation, ideally at an early age, is the only treatment option available to date that can cure sickle cell disease.
Before the transplant, stem cells are taken from a matching donor. The stem cells from the donor produce healthy new blood cells in the patient and the body will stop producing sickle-shaped cells causing the disease.
Human leukocyte antigen (HLA) typing is used to match patients and donors for stem cell transplants via buccal swab tests. HLAs are proteins, or markers, found on most cells in the body. The immune system uses these markers to recognize which cells belong in the body and which do not. That is why it is essential to find a donor whose HLA characteristics match those of the patient as closely as possible. This way, the new immune system that develops from the donor’s stem cells will accept the patient’s own cells.
Because tissue characteristics are inherited, the best chance of finding a match between donor and patient is within families. Parents are normally only haploidentical, or ‘half-matching’ donors, as a child inherits half of its HLA characteristics from the mother and half from the father. The highest probability of a match is between siblings, which is why they are the first family members to be tested as potential donors.
There is a 25% chance that a sibling will be a matching stem cell donor for a patient and provides the best chance for successful bone marrow transplantation.
Sickle cell disease is caused by mutations in the DNA regions that are responsible for the creation of hemoglobin. A mutation in that gene can distort red blood cells into a sickle shape. It is an inherited blood disorder, passed from parents to children.
Only when both copies of the hemoglobin gene are mutated does sickle cell disease occur. A carrier of sickle cell is someone who carries only one copy of the mutated gene that causes sickle cell disease and therefore does not develop the disease him or herself. When two people who are carriers have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.
Early diagnosis combined with prevention of infections increases the life expectancy and the quality of life. Especially in the first years of life, children with sickle cell disease are very prone to life-threatening infections such as pneumonia or meningitis.
The aim of newborn screening for SCD is to identify and treat affected children as early as possible even if the child does not show any of the symptoms and seems to be healthy. For this, a small blood sample from the baby’s heel is dripped onto filter paper cards. Four weeks later the parents can collect the results of the screening. If the child is diagnosed simple interventions at an early age prevent life-threatening complications and help to manage the disease.
Sickle cell disease varies between individuals from mild to serious. Mild sickle cell disease may have no impact on a person's life, but for too many patients it is serious enough to have a significant effect and can be fatal.
The long-term survival of a child with sickle cell disease depends on several factors, including the severity of the disease and the extent to which preventive measures are taken. Advances in prevention and medications can reduce the life-threatening complications of this chronic disease.
Management of sickle cell disease is usually aimed at avoiding pain episodes, relieving symptoms, and preventing complications. Treatments include penicillin prophylaxis to prevent severe bacterial infections and hydroxyurea therapy can be highly effective for patients as this results in fewer pain crises and fewer episodes of acute chest syndrome, resulting in fewer stays in hospital.
Bone marrow transplants have been used to treat different types of blood cancer and life-threatening disorders of the blood-forming system for many decades. With success rates of over 80% bone marrow transplantation, ideally at an early age, is the only treatment option available to date that can cure sickle cell disease.
Before the transplant, stem cells are taken from a matching donor. The stem cells from the donor produce healthy new blood cells in the patient and the body will stop producing sickle-shaped cells causing the disease.
Human leukocyte antigen (HLA) typing is used to match patients and donors for stemcell transplants via buccal swab tests. HLAs are proteins, or markers, found onmost cells in the body. The immune system uses these markers to recognize which cells belong in the body and which do not. That is why it is essential to finda donor whose HLA characteristics match those of the patient as closely as possible. This way, the new immune system that develops from the donor’s stemcells will accept the patient’s own cells.
Because tissue characteristics are inherited, the best chance of finding a match between donor and patient is within families. Parents are normally only haploidentical, or ‘half-matching’ donors, as a child inherits half of its HLA characteristics from the mother and half from the father. The highest probability of a match is between siblings, which is why they are the first family members to be tested as potential donors.
There is a 25% chance that a sibling will be a matching stem cell donor for a patient and provides the best chance for successful bone marrow transplantation.
Cure2Children and DKMS aim to sustainably improve the situation for sickle cell disease patients and their families in sub-Saharan Africa. Collaboration with local partners is key to be able to facilitate access to:
Offer free newborn-screening for SCD
Support penicillin prophylaxis and hydroxyurea therapy as indicated
Offer free HLA typing to children with SCD and their immediate family members
Offer affordable BMT abroad, until it is available locally
Promote BMT training and capacity building
Cure2Children is a non-profit organization with the mission of bringing cure to children with cancer and severe blood disorders. The organization, based in Florence, Italy, operates globally. It was launched in 2007 by a group of parents who lost their child to cancer, in collaboration with the pediatric hematologist-oncologist, Dr. Lawrence Faulkner.
Cure2Children has enabled the set-up of several Bone Marrow Transplant Units across South-East Asia, the Middle East and Africa offering safe and accessible transplantation directly in lower-income settings. These BMT services have achieved outcomes at par with international standards at a fraction of the cost. To date, over 800 bone marrow transplants have been performed in children below the age of 18.
DKMS is an international non-profit organization dedicated to saving the lives of patients with blood cancer and severe blood disorders, founded in Germany in 1991 by Dr. Peter Harf. DKMS has offices in Germany, the USA, Poland, the UK, Chile, South Africa and in India with its partner BMST.
With over 11,5 million registered potential stem cell donors, DKMS has provided more than 100,000 patients across the globe a second chance at life. DKMS is also heavily involved in the fields of medicine and science and committed to improving the access to transplantation for patients from low- and middle-income countries.
Feel free to get in touch with us, no matter if you reach us out as a patient, a healthcare professional or if you have any questions regarding sickle cell disease.
Regina Landwehr
ATT@dkms.de
