Introduction
Umbilical cord blood is the remaining blood in placenta and umbilical cord after birth. Cord blood contains stem cells that are used to treat various disorders which are congenital and involves genetics e.g. fucosidosis. At the time of birth of the baby or seconds after that, the cord blood is syringed out from the placenta via the umbilical cord vessels. Some say that placenta is a much better source of stem cells, which is the key to treatment. In treating conditions such as brain injury and juvenile diabetes role of the cord blood is under study, and next research target is treating stroke and hearing loss. The cord blood is unique as it is composed of all the elements found in whole blood and it is perfect for reuse in same or different but compatible donor. It contains stem cells, red blood cells, white blood cells, plasma, and platelets. These stem cells in cord blood have immense potential to cure diseases related to blood, genetics, metabolic and heart defects. Collected cord blood is preserved by doing freezing and then stored for future transplantation in a blood bank specially made for cord blood bank. From this bank, cord blood can be obtained for future use of treating diseases one of which we will we will be talking about a metabolic disorder due to genes is: fucosidosis.
History
Fucosidosis is a lysosome storage disease that results from an abnormality in function of an organelle of cell. An enzyme is missing from that organelle. In fucosidosis, the body cannot finish breaking down some kinds of molecules of sugar, fat, and protein into the useful smaller parts. These partially and abnormally broken-down molecules deposit in the whole body cells and keeps on damaging them. This causes variable symptoms to occur which gets worsen over time.About the reason behind fucosidosis to occurs, not an extensive knowledge is gained yet. Fucosidosis has been said to be a rare disease, as written documented cases worldwide are less than 100 patients. The disorder has been found in a gene on chromosome 1, and one on chromosome 2. An individual must obtain two copies of these defective genes, as one from each carrier parent in order to develop fucosidosis.
Features
Two types of fucosidosis are yet known by some studies, while others have found three types. Other does believe that these are no types rather the ways that fucosidosis may present clinically. In types the symptoms are:
Severe or type 1:
- Appears in the age of 03-18 months of life
- Facial features are coarse
- Enlarged liver and spleen or heart
- Bone formation abnormal
- Mentally retarder child
- Seizure/ fits
- The brain and spinal cord function deteriorates progressively
- Altered perspiration
Moderate or type 2:
- Begins between age of 1 and 2
- Milder but progressive type 1 symptoms
- Abnormal blood vessel growth on the skin
Tips and comments
Diagnosis and treatment of fucosidosis:
Fucosidosis is suspected as based on the child's physical appearance and symptoms, a special urine test will confirm if partially-broken sugars are positive. A blood sample or skin sample will be taken. In fucosidosis the blood or skin will have below-normal amounts of the deranged enzyme in it. There is as such no way to stop or treat fucosidosis, so treatment focuses on treating symptoms by supportive medication. For example in an individual medications for seizure control are part of supportive therapy. Various approaches are devised to look for a treatment of fucosidosis: Clinical trials are done to use cord blood as for the basic of treatment through the stem cells in cord blood. Several trials on this approach are going on. It is also made possible that if an individual with fucosidosis can get a bone marrow transplant that should be healthy as in bone marrow cells which would produce normal amounts of the lacking enzyme. However, only a few individuals with fucosidosis have experimentally received BMT, and not enough information is available to know if it is an effective treatment for fucosidosis.
