Posts Tagged ‘Fanconi Anemia’
The prognosis for a transplant is better for younger patients in good clinical conditions, which have had little or no transfusions. Likewise, transplantation from a related donor increases the chance of a successful transplant. Conditions such as myelodysplasia or leukemia require more aggressive preparation for transplantation and decrease the chances of success.
1. Sibling donor
The chances of another child of the family is histocompatible with a brother are approximately 25%. Experts agree that the degree of histocompatibility of the brothers should be known as soon as possible after diagnosing AF in one. The chances of FA has another brother are also 25%. It is therefore essential to make the diagnosis of the brothers to make sure they do not have FA. Read the rest of this entry »
What treatments are available for spinal complications of AF patients? There is no simple answer to this question. Androgen treatment, hematopoietic growth factors, antibiotics may be effective for some patients over a period of time. However, bone marrow transplant, ideally from HLA-identical family donors, is the treatment of choice for patients with AF.
1. Androgen therapy
Between 50 and 75% of FA patients respond to a group of drugs known as androgens. Androgens are male hormones often stimulate the production of one or more types of blood cells for long periods of time.
Androgens are most effective in increasing the number of red blood cells. Often also increase platelet production. Only a few patients also increases white blood cells as a result of androgen administration. Androgens prolong the life of many patients AF, but a large portion of patients may stop responding to them after a certain time. Read the rest of this entry »
To make the diagnosis of aplastic anemia, doctors are not based solely on counting blood cells. They also perform a bone marrow aspiration or core biopsy, to have more certainty in diagnosis and disease progression.
The bone marrow aspiration is based on inserting a needle into a bone cavity, to remove a small sample of your bone marrow. By examining microscope, the existence of a severe aplastic anemia is confirmed by the presence of few blood cells in the sample. The core of aspirations used to examine the types of cells in the marrow and cytogenetic studies also allow for prediction of disease progression.
Marrow biopsy in a process in which a needle is inserted into the bone and removes a small piece of bone that contains marrow. It helps to know exactly how many cells are present in the bone. It is also useful to determine whether the cells have abnormal shape or size. Read the rest of this entry »
What is learned from the blood count of a patient FA?
The blood cell counts reveal the contents of red blood cells, white cells and platelets. This analysis also shows the relative percentage of different types of white blood cells in the blood. The granulocytes, particularly granulocyte Neutrophils fight bacterial infections mainly.
In cooperation with other cells also play an important role in the control of fungal infections. Lymphocytes are crucial in controlling the immune response, which are important for any type of infection and also play a role in controlling tumor cells.
An important fact is the ANC (Absolute Neutrophil Count or absolute neutrophil count). This value is determined by multiplying the percentage of neutrophils (mature and immature) by the total number of white blood cells. Its normal value is around 2,000. It could be between 500 and 1,000 to fight a bacterial infection properly. Read the rest of this entry »
No one can predict when it will produce the marrow failure in patients with AF. The average age is usually at age 7. Many children start to have symptoms of marrow failure between 3 and 12. At least 10% of cases were diagnosed after age 16, there are some individuals who were diagnosed over the age of 40.
A few patients diagnosed and identified by the test of broken chromosomes do not have blood problems, or physical, in its third decade of life. Therefore, AF is a disease of childhood.
Myelodysplasia and leukemia:
In some cases, the diagnosis of AF is performed when the patient has developed what is known as myelodysplastic syndrome. This term describes an abnormal differentiation in the cells responsible for producing red blood cells and platelets. Sometimes the myelodysplastic syndrome progresses to leukemia, usually of myeloid cells. Read the rest of this entry »
When the FA patient’s bone marrow does not function properly, blood cell production significantly lower and can appear a series of hematologic conditions. These are:
Anemia: Because red blood cells are responsible for transporting oxygen, the deficit of these cells leads to a decrease in the amount of oxygen reaching the tissues. As a result, the patient undergoes decay, fatigue, and pallor visible. The lack of red blood cells is called anemia.
Infection: When the body lacks the proper amount of white blood cells, the patient may be extremely vulnerable to common germs. The fever is usually the first sign of a serious infection. The medical term for low white blood cell count is to leucopenia. The patient usually FA deficiencies of a certain class of white blood cells called neutrophils, which are needed to fight bacterial infections. This condition is called neutropenia. Read the rest of this entry »
Scientists believe that a relatively large number of patients with Fanconi anemia (FA) is diagnosed. The main reasons are that this disease is very rare and is manifested in different ways. Some babies are diagnosed at birth. Other children become adults before they discover they are affected. Some patients are never diagnosed correctly. It is therefore necessary to make an effort for the characteristic signs and symptoms of this disease are better known.
Apparent defects at birth
Many patients with AF have birth defects. These defects can affect any organ, although the emergence of different types of abnormalities are not predictable, even in families where a child is more than AF patients. Read the rest of this entry »
Fanconi anemia is a serious disease that was discovered in 1927 by a Swiss pediatrician Guido Fanconi called. This disease occurs primarily in children through anemia and infectious and hemorrhagic episodes that are often persistent and severe. The reason why these symptoms occur is the gradual disappearance of the blood cells involved in these processes, Fanconi anemia patients also have a high predisposition to cancer, especially leukemia.
Despite its severity, this hereditary disease is little known among society, because they are few reported cases in the population. In Spain it is suspected that there are about one hundred families affected. Often the family drama associated with the disease is exacerbated by the lack of it. Read the rest of this entry »